#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	12726619	12726619	+	Missense_Mutation	SNP	G	G	C	rs376400654		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:12726619G>C	ENST00000376221.1	+	4	1097	c.1097G>C	c.(1096-1098)cGc>cCc	p.R366P		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	366						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.R366P(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)		CAGGGGGTCCGCGTGACATGG	0.488																																						uc001auf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1096-1098)CGC>CCC		arylacetamide deacetylase-like 4							88.0	90.0	89.0					1																	12726619		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726619G>C		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.1097G>C	1.37:g.12726619G>C	ENSP00000365395:p.Arg366Pro						p.R366P	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	1097	+	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)	366			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000376221.1	37	c.1097G>C	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.744796	0.00087	.	.	ENSG00000204518	ENST00000376221	T	0.55052	0.54	4.53	0.436	0.16549	Alpha/beta hydrolase fold-3 (1);	0.361104	0.27976	N	0.017083	T	0.12987	0.0315	N	0.00214	-1.84	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.41324	-0.9515	10	0.02654	T	1	-11.7983	11.5561	0.50748	0.0:0.484:0.4418:0.0742	.	366	Q5VUY2	ADCL4_HUMAN	P	366	ENSP00000365395:R366P	ENSP00000365395:R366P	R	+	2	0	AADACL4	12649206	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.308000	0.08156	-0.083000	0.12618	-0.175000	0.13238	CGC		PASS	0.488	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		17	268	17	268	---	---	---	---
CD164L2	388611	broad.mit.edu	37	1	27709155	27709155	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:27709155T>A	ENST00000374030.1	-	2	231	c.91A>T	c.(91-93)Aaa>Taa	p.K31*	CD164L2_ENST00000374027.3_Nonsense_Mutation_p.K31*|CD164L2_ENST00000374025.3_Nonsense_Mutation_p.K31*			Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	31						integral component of membrane (GO:0016021)		p.K31*(2)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGAGCTCCTTTACCTGGTAGT	0.642																																						uc001boc.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(91-93)AAA>TAA		CD164 sialomucin-like 2							40.0	44.0	43.0					1																	27709155		2203	4299	6502	SO:0001587	stop_gained	388611					integral to membrane		g.chr1:27709155T>A	AY358761	CCDS302.1	1p36.11	2008-02-05			ENSG00000174950	ENSG00000174950			32043	protein-coding gene	gene with protein product							Standard	XM_005245868		Approved		uc001boc.3	Q6UWJ8	OTTHUMG00000003395	ENST00000374030.1:c.91A>T	1.37:g.27709155T>A	ENSP00000363142:p.Lys31*						p.K31*	NM_207397	NP_997280	Q6UWJ8	C16L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	2	167	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	31			Extracellular (Potential).		B2RPJ0|Q5JXD6	Nonsense_Mutation	SNP	ENST00000374030.1	37	c.91A>T		.	.	.	.	.	.	.	.	.	.	T	28.3	4.909127	0.92107	.	.	ENSG00000174950	ENST00000374030;ENST00000374027;ENST00000374025	.	.	.	4.5	4.5	0.54988	.	0.124232	0.36778	N	0.002413	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6364	10.1181	0.42603	0.0:0.0:0.0:1.0	.	.	.	.	X	31	.	ENSP00000363137:K31X	K	-	1	0	CD164L2	27581742	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.860000	0.55995	1.895000	0.54865	0.454000	0.30748	AAA		PASS	0.642	CD164L2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009518.1	NM_207397		22	31	22	31	---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32504202	32504202	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:32504202A>G	ENST00000327300.7	+	7	1324	c.1157A>G	c.(1156-1158)tAt>tGt	p.Y386C	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.Y347C|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1									p.Y386C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TACGAAGGCTATTACAGCCAG	0.403																																					Ovarian(173;401 1982 12359 31110 42403)	uc001bub.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1156-1158)TAT>TGT		KH domain containing, RNA binding, signal							130.0	115.0	120.0					1																	32504202		2203	4300	6503	SO:0001583	missense	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32504202A>G	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1157A>G	1.37:g.32504202A>G	ENSP00000313829:p.Tyr386Cys					KHDRBS1_uc001bua.1_Missense_Mutation_p.Y347C|KHDRBS1_uc001buc.1_RNA	p.Y386C	NM_006559	NP_006550	Q07666	KHDR1_HUMAN			7	1263	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	386						Missense_Mutation	SNP	ENST00000327300.7	37	c.1157A>G	CCDS350.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459644	0.63401	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.51071	0.72;0.74	5.33	4.2	0.49525	.	0.545475	0.21936	N	0.066958	T	0.43277	0.1240	L	0.55481	1.735	0.80722	D	1	B;B	0.16802	0.011;0.019	B;B	0.17433	0.008;0.018	T	0.31280	-0.9949	10	0.46703	T	0.11	.	11.3221	0.49428	0.9284:0.0:0.0716:0.0	.	386;347	Q07666;Q07666-3	KHDR1_HUMAN;.	C	386;347;362	ENSP00000313829:Y386C;ENSP00000417731:Y347C	ENSP00000313829:Y386C	Y	+	2	0	KHDRBS1	32276789	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.411000	0.90229	0.980000	0.38523	-0.256000	0.11100	TAT		PASS	0.403	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		9	81	9	81	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	33987099	33987099	+	Missense_Mutation	SNP	C	C	A	rs555477246		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:33987099C>A	ENST00000373381.4	-	68	10737	c.10561G>T	c.(10561-10563)Ggc>Tgc	p.G3521C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3377						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3377C(1)|p.K3376_G3377>NC(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)				AAGCCTTGGCCCTTGACAGAG	0.602																																						uc001bxn.1																			2	Substitution - Missense(1)|Complex - compound substitution(1)		lung(2)	ovary(6)|skin(5)|pancreas(1)	12						c.(10129-10131)GGC>TGC		CUB and Sushi multiple domains 2							98.0	91.0	94.0					1																	33987099		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33987099C>A	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.10561G>T	1.37:g.33987099C>A	ENSP00000362479:p.Gly3521Cys					CSMD2_uc001bxm.1_Missense_Mutation_p.G3521C	p.G3377C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			67	10158	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3377			Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.10129G>T		.	.	.	.	.	.	.	.	.	.	C	25.1	4.600468	0.87055	.	.	ENSG00000121904	ENST00000373381	T	0.32272	1.46	5.89	5.89	0.94794	.	0.057878	0.64402	D	0.000001	T	0.59582	0.2204	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.74674	0.984;0.827	T	0.61357	-0.7079	10	0.87932	D	0	.	19.2499	0.93919	0.0:1.0:0.0:0.0	.	3377;3521	Q7Z408;E7EUA6	CSMD2_HUMAN;.	C	3521	ENSP00000362479:G3521C	ENSP00000241312:G3377C	G	-	1	0	CSMD2	33759686	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.741000	0.68638	2.793000	0.96121	0.655000	0.94253	GGC		PASS	0.602	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		19	67	19	67	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34038220	34038220	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:34038220T>A	ENST00000373381.4	-	50	7824	c.7648A>T	c.(7648-7650)Aag>Tag	p.K2550*		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2552	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K2552*(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)				TACATGGCCTTGGTTCCCACT	0.552																																						uc001bxn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(7654-7656)AAG>TAG		CUB and Sushi multiple domains 2							139.0	119.0	126.0					1																	34038220		2203	4300	6503	SO:0001587	stop_gained	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34038220T>A	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.7648A>T	1.37:g.34038220T>A	ENSP00000362479:p.Lys2550*					CSMD2_uc001bxm.1_Nonsense_Mutation_p.K2550*	p.K2552*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			51	7683	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2552			Extracellular (Potential).|Sushi 15.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	ENST00000373381.4	37	c.7654A>T		.	.	.	.	.	.	.	.	.	.	T	51	17.511908	0.99888	.	.	ENSG00000121904	ENST00000373381	.	.	.	5.65	5.65	0.86999	.	0.107206	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0447	0.71819	0.0:0.0:0.0:1.0	.	.	.	.	X	2550	.	ENSP00000241312:K2552X	K	-	1	0	CSMD2	33810807	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.680000	0.46918	2.156000	0.67533	0.477000	0.44152	AAG		PASS	0.552	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		63	107	63	107	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34254260	34254260	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:34254260C>A	ENST00000338325.1	-	6	840	c.428G>T	c.(427-429)tGg>tTg	p.W143L	CSMD2_ENST00000373381.4_Missense_Mutation_p.W535L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	495	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W495L(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)				GAAGAGGAGCCACATTTGATG	0.517																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(1483-1485)TGG>TTG		CUB and Sushi multiple domains 2							125.0	110.0	115.0					1																	34254260		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34254260C>A	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	ENST00000338325.1:c.428G>T	1.37:g.34254260C>A	ENSP00000340311:p.Trp143Leu					CSMD2_uc001bxm.1_Missense_Mutation_p.W535L	p.W495L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			12	1513	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	495			CUB 3.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37	c.1484G>T		.	.	.	.	.	.	.	.	.	.	C	17.32	3.359980	0.61403	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.25749	1.78;1.78	5.57	5.57	0.84162	CUB (5);	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	N	0.21583	0.68	0.80722	D	1	D;B	0.55385	0.971;0.005	D;B	0.64877	0.93;0.05	T	0.02031	-1.1226	10	0.07175	T	0.84	.	17.0563	0.86534	0.0:1.0:0.0:0.0	.	495;535	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	535;143	ENSP00000362479:W535L;ENSP00000340311:W143L	ENSP00000241312:W495L	W	-	2	0	CSMD2	34026847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.388000	0.79795	2.620000	0.88729	0.563000	0.77884	TGG		PASS	0.517	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		6	86	6	86	---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34666588	34666588	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:34666588C>A	ENST00000488417.1	+	3	1345	c.1225C>A	c.(1225-1227)Ccg>Acg	p.P409T	C1orf94_ENST00000373374.3_Missense_Mutation_p.P219T	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	409								p.P219T(1)|p.P409T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AAGCGGGCAGCCGAGACTTCG	0.582																																						uc001bxs.3																			2	Substitution - Missense(2)		lung(2)		0						c.(655-657)CCG>ACG		hypothetical protein LOC84970 isoform b							37.0	35.0	36.0					1																	34666588		2202	4300	6502	SO:0001583	missense	84970						protein binding	g.chr1:34666588C>A	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1225C>A	1.37:g.34666588C>A	ENSP00000435634:p.Pro409Thr					C1orf94_uc001bxt.2_Missense_Mutation_p.P409T	p.P219T	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			3	1054	+		Myeloproliferative disorder(586;0.0393)	219					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.655C>A	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956772	0.18507	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.22539	1.95;1.95	5.52	4.6	0.57074	.	0.330102	0.21939	N	0.066920	T	0.11922	0.0290	N	0.08118	0	0.23501	N	0.997544	B	0.22146	0.065	B	0.23716	0.048	T	0.20338	-1.0278	10	0.59425	D	0.04	-16.3316	10.6161	0.45451	0.0:0.9094:0.0:0.0906	.	409	Q6P1W5	CA094_HUMAN	T	219;409	ENSP00000362472:P219T;ENSP00000435634:P409T	ENSP00000362472:P219T	P	+	1	0	C1orf94	34439175	0.998000	0.40836	0.999000	0.59377	0.066000	0.16364	0.633000	0.24598	1.306000	0.44926	0.655000	0.94253	CCG		PASS	0.582	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		25	10	25	10	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37271862	37271862	+	Silent	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:37271862C>G	ENST00000373091.3	-	14	2173	c.2157G>C	c.(2155-2157)gtG>gtC	p.V719V	GRIK3_ENST00000373093.4_Silent_p.V719V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	719					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.V719V(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGTTGTTCTTCACCAGCGCCG	0.597																																						uc001caz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2155-2157)GTG>GTC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						122.0	104.0	110.0					1																	37271862		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271862C>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2157G>C	1.37:g.37271862C>G						GRIK3_uc001cba.1_Silent_p.V719V	p.V719V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			14	2292	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	719			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.2157G>C	CCDS416.1																																																																																				PASS	0.597	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		5	139	5	139	---	---	---	---
ZFP69	339559	broad.mit.edu	37	1	40947448	40947448	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:40947448G>C	ENST00000372706.1	+	3	1147	c.141G>C	c.(139-141)caG>caC	p.Q47H	ZFP69_ENST00000372705.3_Missense_Mutation_p.Q47H			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	47					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.Q47H(1)									TGCTGTCTCAGGATGCTGAGG	0.502																																						uc001cfo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)CAG>CAC		zinc finger protein 642							98.0	97.0	97.0					1																	40947448		2203	4300	6503	SO:0001583	missense	339559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40947448G>C	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.141G>C	1.37:g.40947448G>C	ENSP00000361791:p.Gln47His					ZNF642_uc009vwb.2_Missense_Mutation_p.Q47H|ZNF642_uc010ojk.1_Missense_Mutation_p.Q47H	p.Q47H	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		3	435	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	47					Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.141G>C	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	.	4.441	0.081582	0.08533	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.05319	3.46;3.46	3.55	1.57	0.23409	.	0.691832	0.11956	N	0.513239	T	0.04952	0.0133	L	0.33485	1.01	0.24012	N	0.996172	B	0.02656	0.0	B	0.04013	0.001	T	0.38628	-0.9652	10	0.45353	T	0.12	-0.3953	4.0847	0.09942	0.1236:0.0:0.646:0.2304	.	47	Q49AA0	ZN642_HUMAN	H	47	ENSP00000361791:Q47H;ENSP00000361790:Q47H	ENSP00000361790:Q47H	Q	+	3	2	ZNF642	40720035	0.821000	0.29204	0.992000	0.48379	0.085000	0.17905	0.817000	0.27281	0.457000	0.26962	0.563000	0.77884	CAG		PASS	0.502	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		12	190	12	190	---	---	---	---
DPH2	1802	broad.mit.edu	37	1	44435983	44435983	+	Missense_Mutation	SNP	G	G	T	rs373268510		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:44435983G>T	ENST00000255108.3	+	1	308	c.136G>T	c.(136-138)Ggg>Tgg	p.G46W	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR|DPH2_ENST00000396758.2_Missense_Mutation_p.G46W	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	46					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)		p.G46W(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCGCGACCTGGGGTGTGAACG	0.627																																						uc001ckz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(136-138)GGG>TGG		diphthamide biosynthesis protein 2 isoform a							69.0	74.0	72.0					1																	44435983		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44435983G>T	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.136G>T	1.37:g.44435983G>T	ENSP00000255108:p.Gly46Trp					DPH2_uc001cla.2_Missense_Mutation_p.G46W|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_Intron	p.G46W	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN			1	331	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	46					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.136G>T	CCDS504.1	.	.	.	.	.	.	.	.	.	.	G	4.452	0.083792	0.08583	.	.	ENSG00000132768	ENST00000255108;ENST00000396758	.	.	.	5.24	0.765	0.18470	.	0.654660	0.16198	N	0.225091	T	0.29684	0.0741	L	0.57536	1.79	0.20307	N	0.999911	P;P	0.47034	0.889;0.889	B;B	0.36959	0.237;0.237	T	0.18493	-1.0335	9	0.87932	D	0	-1.0236	9.6271	0.39757	0.086:0.5286:0.3855:0.0	.	46;46	A8MVC9;Q9BQC3	.;DPH2_HUMAN	W	46	.	ENSP00000255108:G46W	G	+	1	0	DPH2	44208570	0.002000	0.14202	0.002000	0.10522	0.068000	0.16541	0.890000	0.28295	0.262000	0.21774	0.461000	0.40582	GGG		PASS	0.627	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		43	91	43	91	---	---	---	---
EPS15	2060	broad.mit.edu	37	1	51829589	51829589	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:51829589C>A	ENST00000371733.3	-	23	2404	c.2308G>T	c.(2308-2310)Gca>Tca	p.A770S	EPS15_ENST00000371730.2_Missense_Mutation_p.A636S|EPS15_ENST00000396122.4_Missense_Mutation_p.A447S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	770	15 X 3 AA repeats of D-P-F.|Pro-rich.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)|p.A770S(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GGTGGCAGTGCTGGGGGTTCA	0.453			T	MLL	ALL																																	uc001csq.1				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		3	Whole gene deletion(2)|Substitution - Missense(1)		thyroid(1)|lung(1)|central_nervous_system(1)	lung(1)|kidney(1)	2						c.(2308-2310)GCA>TCA		epidermal growth factor receptor pathway							223.0	199.0	207.0					1																	51829589		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51829589C>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2308G>T	1.37:g.51829589C>A	ENSP00000360798:p.Ala770Ser					EPS15_uc009vyz.1_Missense_Mutation_p.A636S|EPS15_uc001csp.3_Missense_Mutation_p.A456S	p.A770S	NM_001981	NP_001972	P42566	EPS15_HUMAN			23	2400	-			770			15 X 3 AA repeats of D-P-F.|Pro-rich.|SH3-binding.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.2308G>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394079	0.62066	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.53423	0.62;0.62;0.62	5.95	5.95	0.96441	.	.	.	.	.	T	0.66376	0.2783	M	0.72894	2.215	0.80722	D	1	D;D;D	0.67145	0.996;0.983;0.979	P;P;P	0.59487	0.824;0.858;0.787	T	0.61992	-0.6948	9	0.37606	T	0.19	.	20.3886	0.98946	0.0:1.0:0.0:0.0	.	636;770;456	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	S	636;770;447	ENSP00000360795:A636S;ENSP00000360798:A770S;ENSP00000379428:A447S	ENSP00000360795:A636S	A	-	1	0	EPS15	51602177	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.971000	0.70440	2.824000	0.97209	0.655000	0.94253	GCA		PASS	0.453	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		12	120	12	120	---	---	---	---
SLC1A7	6512	broad.mit.edu	37	1	53569103	53569103	+	Silent	SNP	C	C	A	rs572643833		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:53569103C>A	ENST00000371494.4	-	5	739	c.612G>T	c.(610-612)ccG>ccT	p.P204P		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	204					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.P204P(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CCTCGGGCGGCGGGGTCAGGT	0.627																																					NSCLC(128;80 1811 21245 38490 51715)	uc001cuy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(610-612)CCG>CCT		solute carrier family 1 (glutamate transporter),	L-Glutamic Acid(DB00142)						33.0	37.0	36.0					1																	53569103		2203	4300	6503	SO:0001819	synonymous_variant	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53569103C>A	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.612G>T	1.37:g.53569103C>A							p.P204P	NM_006671	NP_006662	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	5	780	-			204			Extracellular (Potential).		Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	c.612G>T	CCDS574.1																																																																																				PASS	0.627	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		8	12	8	12	---	---	---	---
TCEANC2	127428	broad.mit.edu	37	1	54562010	54562010	+	Missense_Mutation	SNP	C	C	G	rs41294786	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:54562010C>G	ENST00000234827.1	+	5	691	c.491C>G	c.(490-492)tCc>tGc	p.S164C	TCEANC2_ENST00000371331.1_Missense_Mutation_p.S194C|TCEANC2_ENST00000498272.1_3'UTR	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	164	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S164C(1)		kidney(1)|lung(3)|pancreas(1)	5						CATCTCTGCTCCCGCCTCATT	0.488													C|||	5	0.000998403	0.0	0.0	5008	,	,		19049	0.0		0.005	False		,,,				2504	0.0					uc001cwt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)TCC>TGC		hypothetical protein LOC127428		C	CYS/SER	3,4403	6.2+/-15.9	0,3,2200	74.0	85.0	81.0		491	5.3	1.0	1	dbSNP_127	81	30,8570	21.0+/-64.5	0,30,4270	yes	missense	TCEANC2	NM_153035.1	112	0,33,6470	GG,GC,CC		0.3488,0.0681,0.2537	probably-damaging	164/209	54562010	33,12973	2203	4300	6503	SO:0001583	missense	127428				transcription, DNA-dependent	nucleus	DNA binding	g.chr1:54562010C>G	AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.491C>G	1.37:g.54562010C>G	ENSP00000234827:p.Ser164Cys					C1orf83_uc001cwu.1_RNA	p.S164C	NM_153035	NP_694580	Q96MN5	TEAN2_HUMAN			5	691	+			164			TFIIS central.		Q5T702|Q8N8N2	Missense_Mutation	SNP	ENST00000234827.1	37	c.491C>G	CCDS587.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	17.64	3.439297	0.63067	6.81E-4	0.003488	ENSG00000116205	ENST00000234827;ENST00000371331	T;T	0.43294	0.95;0.95	5.34	5.34	0.76211	Transcription elongation factor S-II, central domain (3);	0.111275	0.64402	D	0.000004	T	0.50257	0.1605	L	0.57536	1.79	0.54753	D	0.999989	D	0.76494	0.999	D	0.66847	0.947	T	0.54702	-0.8254	10	0.49607	T	0.09	-5.2161	13.9506	0.64113	0.1518:0.8482:0.0:0.0	rs41294786	164	Q96MN5	TEAN2_HUMAN	C	164;194	ENSP00000234827:S164C;ENSP00000360382:S194C	ENSP00000234827:S164C	S	+	2	0	TCEANC2	54334598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.425000	0.66470	2.522000	0.85027	0.563000	0.77884	TCC		PASS	0.488	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1	NM_153035		9	178	9	178	---	---	---	---
ANGPTL3	27329	broad.mit.edu	37	1	63064458	63064458	+	Missense_Mutation	SNP	T	T	A	rs201826477		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:63064458T>A	ENST00000371129.3	+	2	667	c.587T>A	c.(586-588)aTa>aAa	p.I196K	DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	196					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)	p.I196K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						CATAGTCAAATAAAAGAAATA	0.318																																						uc001das.1																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)ATA>AAA		angiopoietin-like 3 precursor							107.0	104.0	105.0					1																	63064458		2203	4299	6502	SO:0001583	missense	27329				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	g.chr1:63064458T>A	AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.587T>A	1.37:g.63064458T>A	ENSP00000360170:p.Ile196Lys					DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	p.I196K	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN			2	638	+			196			Potential.		A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	ENST00000371129.3	37	c.587T>A	CCDS622.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204891	0.79127	.	.	ENSG00000132855	ENST00000371129	T	0.61980	0.06	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73458	0.3589	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76870	-0.2799	10	0.62326	D	0.03	.	15.5793	0.76422	0.0:0.0:0.0:1.0	.	196	Q9Y5C1	ANGL3_HUMAN	K	196	ENSP00000360170:I196K	ENSP00000360170:I196K	I	+	2	0	ANGPTL3	62837046	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.002000	0.57053	2.219000	0.72066	0.533000	0.62120	ATA		PASS	0.318	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		9	81	9	81	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75693523	75693523	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:75693523C>G	ENST00000370855.5	-	13	986	c.873G>C	c.(871-873)caG>caC	p.Q291H	SLC44A5_ENST00000535611.1_Missense_Mutation_p.Q161H|SLC44A5_ENST00000370859.3_Missense_Mutation_p.Q291H	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	291					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q291H(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGGTGTACTGCTGGTAACAGT	0.338																																						uc001dgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(871-873)CAG>CAC		solute carrier family 44, member 5 isoform A							111.0	105.0	107.0					1																	75693523		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75693523C>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.873G>C	1.37:g.75693523C>G	ENSP00000359892:p.Gln291His					SLC44A5_uc001dgt.2_Missense_Mutation_p.Q291H|SLC44A5_uc001dgs.2_Missense_Mutation_p.Q249H|SLC44A5_uc001dgr.2_Missense_Mutation_p.Q249H|SLC44A5_uc010oqz.1_Missense_Mutation_p.Q330H|SLC44A5_uc010ora.1_Missense_Mutation_p.Q285H|SLC44A5_uc010orb.1_Missense_Mutation_p.Q161H	p.Q291H	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			13	1017	-			291			Extracellular (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.873G>C	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584131	0.46110	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.14022	2.95;2.95;2.54	6.05	-11.1	0.00147	.	0.766542	0.13667	N	0.371106	T	0.04588	0.0125	L	0.56769	1.78	0.09310	N	1	P;P;P;P;P	0.43885	0.553;0.553;0.553;0.82;0.681	B;B;B;P;P	0.52217	0.396;0.396;0.396;0.693;0.6	T	0.02126	-1.1209	10	0.21540	T	0.41	12.6301	2.0051	0.03475	0.3048:0.3393:0.0751:0.2809	.	285;330;291;291;330	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	H	291;330;291;161;284	ENSP00000359896:Q291H;ENSP00000359892:Q291H;ENSP00000443090:Q161H	ENSP00000359892:Q291H	Q	-	3	2	SLC44A5	75466111	0.021000	0.18746	0.000000	0.03702	0.000000	0.00434	0.304000	0.19228	-2.236000	0.00713	-2.106000	0.00359	CAG		PASS	0.338	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		26	55	26	55	---	---	---	---
AK5	26289	broad.mit.edu	37	1	77759531	77759531	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:77759531A>G	ENST00000354567.2	+	3	564	c.301A>G	c.(301-303)Atc>Gtc	p.I101V	AK5_ENST00000317704.4_Intron|AK5_ENST00000344720.5_Missense_Mutation_p.I75V	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	101					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.I101V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GCTCCCTCCAATCCATCAATT	0.408																																						uc001dhn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(301-303)ATC>GTC		adenylate kinase 5 isoform 1							63.0	65.0	64.0					1																	77759531		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77759531A>G	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.301A>G	1.37:g.77759531A>G	ENSP00000346577:p.Ile101Val					AK5_uc001dho.2_Missense_Mutation_p.I75V|AK5_uc001dhm.1_Intron	p.I101V	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			3	558	+			101					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.301A>G	CCDS675.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562376	0.86335	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.83506	-0.71;-0.74;-1.73	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.71316	0.3325	L	0.32530	0.975	0.80722	D	1	D	0.53745	0.962	P	0.47744	0.556	T	0.71024	-0.4712	10	0.23302	T	0.38	-14.5758	15.2336	0.73411	1.0:0.0:0.0:0.0	.	101	Q9Y6K8	KAD5_HUMAN	V	101;75;75	ENSP00000346577:I101V;ENSP00000341430:I75V;ENSP00000434409:I75V	ENSP00000341430:I75V	I	+	1	0	AK5	77532119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.896000	0.92521	2.075000	0.62263	0.459000	0.35465	ATC		PASS	0.408	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		3	74	3	74	---	---	---	---
GNG5	2787	broad.mit.edu	37	1	84967627	84967627	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:84967627T>A	ENST00000370641.3	-	2	581	c.108A>T	c.(106-108)aaA>aaT	p.K36N	GNG5_ENST00000487806.1_5'UTR|GNG5_ENST00000370645.4_Missense_Mutation_p.K36N			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	36					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|PDZ domain binding (GO:0030165)|signal transducer activity (GO:0004871)	p.K36N(1)		lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		GACAGAACTGTTTCAAGTCTG	0.438																																						uc001djw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)AAA>AAT		guanine nucleotide binding protein (G protein),							44.0	48.0	47.0					1																	84967627		2203	4300	6503	SO:0001583	missense	2787				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr1:84967627T>A	AF038955	CCDS696.1	1p22	2014-05-14			ENSG00000174021	ENSG00000174021			4408	protein-coding gene	gene with protein product		600874				7606925	Standard	NM_005274		Approved		uc001djw.4	P63218	OTTHUMG00000009858	ENST00000370641.3:c.108A>T	1.37:g.84967627T>A	ENSP00000359675:p.Lys36Asn						p.K36N	NM_005274	NP_005265	P63218	GBG5_HUMAN		all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)	3	462	-			36					B2R5A0|P30670|Q5VX54|Q61015	Missense_Mutation	SNP	ENST00000370641.3	37	c.108A>T	CCDS696.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234759	0.79800	.	.	ENSG00000174021	ENST00000370645;ENST00000370641	T;T	0.21543	2.0;2.0	5.63	4.5	0.54988	G-protein gamma domain (5);	0.061407	0.64402	D	0.000005	T	0.18299	0.0439	.	.	.	0.44085	D	0.996844	P	0.37276	0.589	P	0.51550	0.673	T	0.07927	-1.0747	9	0.46703	T	0.11	.	4.7477	0.13045	0.0:0.2598:0.0:0.7402	.	36	P63218	GBG5_HUMAN	N	36	ENSP00000359679:K36N;ENSP00000359675:K36N	ENSP00000359675:K36N	K	-	3	2	GNG5	84740215	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.888000	0.48594	2.281000	0.76405	0.533000	0.62120	AAA		PASS	0.438	GNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027240.1	NM_005274		12	50	12	50	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86523622	86523622	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:86523622C>T	ENST00000370571.2	-	10	2209	c.1843G>A	c.(1843-1845)Ggt>Agt	p.G615S	COL24A1_ENST00000436319.1_Missense_Mutation_p.G615S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	615					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G615S(1)|p.G615C(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACTTGTGCACCTTTAGGACCT	0.338																																						uc001dlj.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1843-1845)GGT>AGT		collagen, type XXIV, alpha 1 precursor							99.0	94.0	96.0					1																	86523622		1885	4096	5981	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86523622C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1843G>A	1.37:g.86523622C>T	ENSP00000359603:p.Gly615Ser					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.G615S	p.G615S	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	10	1885	-			615					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1843G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585276	0.46110	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99527	-6.09;-6.09	5.64	5.64	0.86602	.	0.000000	0.37393	N	0.002108	D	0.99711	0.9889	H	0.94385	3.53	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97652	1.0155	10	0.87932	D	0	.	17.8979	0.88895	0.0:1.0:0.0:0.0	.	615;615	F8WDM8;Q17RW2	.;COOA1_HUMAN	S	615	ENSP00000359603:G615S;ENSP00000392531:G615S	ENSP00000359603:G615S	G	-	1	0	COL24A1	86296210	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	3.940000	0.56599	2.653000	0.90120	0.655000	0.94253	GGT		PASS	0.338	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		15	66	15	66	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86529415	86529415	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:86529415C>T	ENST00000370571.2	-	8	2101	c.1735G>A	c.(1735-1737)Gga>Aga	p.G579R	COL24A1_ENST00000436319.1_Missense_Mutation_p.G579R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	579	Collagen-like 2.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G579R(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTGGAAGTCCTGGGAGTCCA	0.388																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1735-1737)GGA>AGA		collagen, type XXIV, alpha 1 precursor							133.0	127.0	129.0					1																	86529415		1832	4093	5925	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86529415C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1735G>A	1.37:g.86529415C>T	ENSP00000359603:p.Gly579Arg					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.G579R	p.G579R	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	8	1777	-			579			Collagen-like 2.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1735G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202254	0.58234	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.77489	-1.1;-1.1	5.52	5.52	0.82312	.	0.000000	0.36200	N	0.002738	D	0.93223	0.7841	H	0.99143	4.445	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95581	0.8646	10	0.87932	D	0	.	17.9786	0.89133	0.0:1.0:0.0:0.0	.	579;579	F8WDM8;Q17RW2	.;COOA1_HUMAN	R	579	ENSP00000359603:G579R;ENSP00000392531:G579R	ENSP00000359603:G579R	G	-	1	0	COL24A1	86302003	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.377000	0.66184	2.753000	0.94483	0.467000	0.42956	GGA		PASS	0.388	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		11	193	11	193	---	---	---	---
STXBP3	6814	broad.mit.edu	37	1	109319046	109319046	+	Splice_Site	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:109319046G>C	ENST00000370008.3	+	8	734		c.e8+1		STXBP3_ENST00000485167.1_Splice_Site	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3						blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		CCTAATAAAGGTAATGTATGC	0.338																																						uc001dvy.2																			1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.e8+1		syntaxin binding protein 3							55.0	54.0	54.0					1																	109319046		2199	4295	6494	SO:0001630	splice_region_variant	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109319046G>C	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.684+1G>C	1.37:g.109319046G>C						STXBP3_uc001dvz.2_Splice_Site	p.K228_splice	NM_007269	NP_009200	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	8	759	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)						A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Splice_Site	SNP	ENST00000370008.3	37	c.684_splice	CCDS790.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507267	0.64410	.	.	ENSG00000116266	ENST00000370008	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9318	0.97122	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STXBP3	109120569	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.505000	0.81655	2.805000	0.96524	0.655000	0.94253	.		PASS	0.338	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269	Intron	6	29	6	29	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111966324	111966324	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:111966324G>T	ENST00000369732.3	-	5	379	c.324C>A	c.(322-324)acC>acA	p.T108T	OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Silent_p.T48T	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	108					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.T108T(1)|p.T172T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ACAACATAGTGGTGAATCTGT	0.463																																						uc001eba.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(322-324)ACC>ACA		oviductal glycoprotein 1 precursor							114.0	99.0	105.0					1																	111966324		2203	4300	6503	SO:0001819	synonymous_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111966324G>T	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.324C>A	1.37:g.111966324G>T						OVGP1_uc001eaz.2_Silent_p.T70T|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Silent_p.T98T	p.T108T	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	5	380	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	108					A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	c.324C>A	CCDS834.1																																																																																				PASS	0.463	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		9	91	9	91	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145563028	145563028	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:145563028G>C	ENST00000355594.4	+	10	2803	c.2716G>C	c.(2716-2718)Gag>Cag	p.E906Q		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	906								p.E906Q(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGAGCAGTTTGAGAAAACGGC	0.657																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2716-2718)GAG>CAG		ankyrin repeat domain 35							30.0	34.0	33.0					1																	145563028		2202	4298	6500	SO:0001583	missense	148741							g.chr1:145563028G>C	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2716G>C	1.37:g.145563028G>C	ENSP00000347802:p.Glu906Gln					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.E749Q	p.E906Q	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	2824	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		906			Potential.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.2716G>C	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184516	0.57800	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.54279	0.58	5.28	5.28	0.74379	.	0.000000	0.51477	D	0.000082	T	0.56077	0.1961	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.49652	-0.8917	10	0.13853	T	0.58	-29.3211	14.2931	0.66292	0.0:0.0:1.0:0.0	.	906	Q8N283	ANR35_HUMAN	Q	815;906	ENSP00000347802:E906Q	ENSP00000347802:E906Q	E	+	1	0	ANKRD35	144274385	1.000000	0.71417	0.964000	0.40570	0.843000	0.47879	2.026000	0.41069	2.747000	0.94245	0.650000	0.86243	GAG		PASS	0.657	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		19	62	19	62	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150936113	150936113	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:150936113G>C	ENST00000271640.5	+	20	3755	c.3565G>C	c.(3565-3567)Gag>Cag	p.E1189Q	RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000345896.4_5'Flank|SETDB1_ENST00000368969.4_Missense_Mutation_p.E1189Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1189	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E1189Q(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGACAAGGGGGAGAGCGCACC	0.498																																						uc001evu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(3565-3567)GAG>CAG		SET domain, bifurcated 1 isoform 1							184.0	180.0	181.0					1																	150936113		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936113G>C	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3565G>C	1.37:g.150936113G>C	ENSP00000271640:p.Glu1189Gln					SETDB1_uc001evv.2_Missense_Mutation_p.E1189Q|SETDB1_uc009wmg.1_Missense_Mutation_p.E1189Q	p.E1189Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		20	3755	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1189			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3565G>C	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249801	0.80024	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.83163	-1.69;-1.69;-1.69	5.66	5.66	0.87406	SET domain (3);	0.272892	0.41823	D	0.000802	T	0.81678	0.4873	L	0.52206	1.635	0.80722	D	1	P;D;B	0.59357	0.638;0.985;0.284	P;P;B	0.52909	0.61;0.713;0.365	T	0.77664	-0.2503	10	0.23302	T	0.38	.	19.7359	0.96202	0.0:0.0:1.0:0.0	.	1189;1189;1189	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	Q	1189	ENSP00000271640:E1189Q;ENSP00000357965:E1189Q;ENSP00000432348:E1189Q	ENSP00000271640:E1189Q	E	+	1	0	SETDB1	149202737	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.642000	0.83385	2.672000	0.90937	0.462000	0.41574	GAG		PASS	0.498	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			44	436	44	436	---	---	---	---
CERS2	29956	broad.mit.edu	37	1	150940899	150940899	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:150940899T>C	ENST00000271688.6	-	3	649	c.263A>G	c.(262-264)tAc>tGc	p.Y88C	RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000368954.5_Missense_Mutation_p.Y88C|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.Y88C	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	88					ceramide biosynthetic process (GO:0046513)|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)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.Y88C(1)									ACTGGTCAGGTAGAAATGTTC	0.567																																						uc001evy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)TAC>TGC		LAG1 longevity assurance 2							79.0	72.0	74.0					1																	150940899		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940899T>C	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.263A>G	1.37:g.150940899T>C	ENSP00000271688:p.Tyr88Cys					LASS2_uc001evz.2_Missense_Mutation_p.Y88C|LASS2_uc009wmh.2_5'UTR	p.Y88C	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	650	-	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		88			Cytoplasmic (Potential).|Homeobox.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.263A>G	CCDS973.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232914	0.79688	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609;ENST00000457392	D;D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18;-4.18	5.08	5.08	0.68730	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.063133	0.64402	D	0.000003	D	0.97816	0.9283	M	0.86178	2.8	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.98005	1.0362	10	0.49607	T	0.09	-15.5181	14.7019	0.69162	0.0:0.0:0.0:1.0	.	88	Q96G23	CERS2_HUMAN	C	88;88;108;88;88;88	ENSP00000357950:Y88C;ENSP00000271688:Y88C;ENSP00000357945:Y108C;ENSP00000355020:Y88C;ENSP00000393239:Y88C;ENSP00000394012:Y88C	ENSP00000271688:Y88C	Y	-	2	0	CERS2	149207523	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.446000	0.66600	2.138000	0.66242	0.533000	0.62120	TAC		PASS	0.567	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		19	59	19	59	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152127228	152127228	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:152127228G>T	ENST00000316073.3	-	3	2411	c.2347C>A	c.(2347-2349)Cag>Aag	p.Q783K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	783	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.Q783K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTCATCTCTGATGGTTCTGC	0.458																																						uc001ezs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2347-2349)CAG>AAG		repetin							689.0	550.0	592.0					1																	152127228		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127228G>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2347C>A	1.37:g.152127228G>T	ENSP00000317895:p.Gln783Lys						p.Q783K	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	2412	-			783			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.2347C>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478695	0.26511	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12361	2.69	4.33	2.29	0.28610	.	.	.	.	.	T	0.04407	0.0121	L	0.46157	1.445	0.09310	N	1	B	0.18310	0.027	B	0.10450	0.005	T	0.37842	-0.9688	9	0.39692	T	0.17	1.9739	8.9744	0.35926	0.0:0.0:0.5719:0.4281	.	783	Q6XPR3	RPTN_HUMAN	K	783;438	ENSP00000317895:Q783K	ENSP00000317895:Q783K	Q	-	1	0	RPTN	150393852	0.281000	0.24258	0.003000	0.11579	0.109000	0.19521	0.757000	0.26433	0.361000	0.24292	0.551000	0.68910	CAG		PASS	0.458	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		200	703	200	703	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152192255	152192255	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:152192255G>A	ENST00000368801.2	-	3	1925	c.1850C>T	c.(1849-1851)tCa>tTa	p.S617L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	617					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S617L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGTCCTGATGTAGAACC	0.552																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1849-1851)TCA>TTA		hornerin							270.0	251.0	258.0					1																	152192255		2203	4299	6502	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192255G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1850C>T	1.37:g.152192255G>A	ENSP00000357791:p.Ser617Leu						p.S617L	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1926	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		617			6.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1850C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.974	0.749720	0.15778	.	.	ENSG00000197915	ENST00000368801	T	0.05319	3.46	3.64	2.7	0.31948	.	.	.	.	.	T	0.01421	0.0046	N	0.19112	0.55	0.09310	N	1	P	0.51791	0.948	P	0.46362	0.514	T	0.33007	-0.9885	9	0.10111	T	0.7	.	6.411	0.21690	0.0:0.2032:0.5877:0.2091	.	617	Q86YZ3	HORN_HUMAN	L	617	ENSP00000357791:S617L	ENSP00000357791:S617L	S	-	2	0	HRNR	150458879	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	0.596000	0.24044	0.718000	0.32166	0.454000	0.30748	TCA		PASS	0.552	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		157	448	157	448	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152328470	152328470	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:152328470A>T	ENST00000388718.5	-	3	1864	c.1792T>A	c.(1792-1794)Tct>Act	p.S598T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	598	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.S598T(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)			CCTGAGCCAGACCCATGTTGT	0.512																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(1792-1794)TCT>ACT		filaggrin family member 2							206.0	236.0	226.0					1																	152328470		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328470A>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.1792T>A	1.37:g.152328470A>T	ENSP00000373370:p.Ser598Thr					uc001ezv.2_Intron	p.S598T	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1865	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		598			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1792T>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	3.314	-0.140140	0.06669	.	.	ENSG00000143520	ENST00000388718	T	0.24908	1.83	5.01	2.6	0.31112	.	.	.	.	.	T	0.09642	0.0237	L	0.58969	1.84	0.09310	N	1	P	0.51057	0.941	P	0.49597	0.616	T	0.10291	-1.0636	9	0.07175	T	0.84	-7.3989	1.9754	0.03415	0.5774:0.1712:0.0876:0.1638	.	598	Q5D862	FILA2_HUMAN	T	598	ENSP00000373370:S598T	ENSP00000373370:S598T	S	-	1	0	FLG2	150595094	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.693000	0.25497	0.343000	0.23821	0.533000	0.62120	TCT		PASS	0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		159	489	159	489	---	---	---	---
ATP8B2	57198	broad.mit.edu	37	1	154316387	154316387	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:154316387C>T	ENST00000368489.3	+	18	1876	c.1876C>T	c.(1876-1878)Ctg>Ttg	p.L626L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	612					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L626L(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGGGAAGGGCTGAGGACCCT	0.602																																						uc001fex.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1876-1878)CTG>TTG		ATPase, class I, type 8B, member 2 isoform a							46.0	45.0	45.0					1																	154316387		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154316387C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1876C>T	1.37:g.154316387C>T							p.L626L	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		18	1876	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		612			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.1876C>T	CCDS1066.1																																																																																				PASS	0.602	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		30	89	30	89	---	---	---	---
RHBG	57127	broad.mit.edu	37	1	156352620	156352620	+	Silent	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:156352620T>C	ENST00000368249.1	+	8	1232	c.1194T>C	c.(1192-1194)ttT>ttC	p.F398F	RHBG_ENST00000255013.3_Silent_p.F329F|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000451864.2_Silent_p.F320F|RHBG_ENST00000400992.2_Silent_p.F366F|RHBG_ENST00000368246.2_Silent_p.F398F	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	398					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.F398F(2)|p.F366F(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCGGGCTGTTTGTCACACTGA	0.562											OREG0013870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010pho.1																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(1192-1194)TTT>TTC		Rhesus blood group, B glycoprotein							86.0	97.0	94.0					1																	156352620		2067	4208	6275	SO:0001819	synonymous_variant	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156352620T>C	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1194T>C	1.37:g.156352620T>C			OREG0013870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1777	RHBG_uc010phm.1_3'UTR|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Silent_p.F329F|RHBG_uc009wrz.2_Silent_p.F366F|RHBG_uc001for.2_Silent_p.F368F	p.F398F	NM_020407	NP_065140	Q9H310	RHBG_HUMAN			8	1232	+	Hepatocellular(266;0.158)		398			Helical; (Potential).		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	37	c.1194T>C																																																																																					PASS	0.562	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		48	171	48	171	---	---	---	---
OR10K2	391107	broad.mit.edu	37	1	158389791	158389791	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:158389791A>G	ENST00000314902.2	-	1	865	c.866T>C	c.(865-867)aTt>aCt	p.I289T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I289T(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAAGCTATAAATCATTGGGTT	0.363																																						uc010pii.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(865-867)ATT>ACT		olfactory receptor, family 10, subfamily K,							74.0	78.0	77.0					1																	158389791		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158389791A>G	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.866T>C	1.37:g.158389791A>G	ENSP00000324251:p.Ile289Thr						p.I289T	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	866	-	all_hematologic(112;0.0378)		289			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000314902.2	37	c.866T>C	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	a	12.81	2.049117	0.36181	.	.	ENSG00000180708	ENST00000314902	T	0.57273	0.41	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.470629	0.17696	N	0.165104	T	0.69967	0.3170	M	0.88906	2.99	0.42057	D	0.991143	D	0.76494	0.999	D	0.80764	0.994	T	0.76553	-0.2917	10	0.87932	D	0	.	12.7219	0.57147	1.0:0.0:0.0:0.0	.	289	Q6IF99	O10K2_HUMAN	T	289	ENSP00000324251:I289T	ENSP00000324251:I289T	I	-	2	0	OR10K2	156656415	1.000000	0.71417	0.994000	0.49952	0.039000	0.13416	8.545000	0.90657	1.890000	0.54733	0.482000	0.46254	ATT		PASS	0.363	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		38	128	38	128	---	---	---	---
OR6Y1	391112	broad.mit.edu	37	1	158517456	158517456	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:158517456C>G	ENST00000302617.3	-	1	439	c.440G>C	c.(439-441)gGc>gCc	p.G147A		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G147A(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCCAGTGTGCCACAGAGCTG	0.473																																						uc010pil.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)GGC>GCC		olfactory receptor, family 6, subfamily Y,							67.0	58.0	61.0					1																	158517456		2203	4300	6503	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517456C>G	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.440G>C	1.37:g.158517456C>G	ENSP00000304807:p.Gly147Ala						p.G147A	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	440	-	all_hematologic(112;0.0378)		147			Helical; Name=4; (Potential).		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.440G>C	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	C	5.039	0.192940	0.09599	.	.	ENSG00000197532	ENST00000302617	T	0.35789	1.29	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.159452	0.29410	N	0.012223	T	0.05456	0.0144	N	0.03983	-0.305	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.23154	-1.0196	10	0.07482	T	0.82	.	12.2129	0.54389	0.0:0.7183:0.2817:0.0	.	147	Q8NGX8	OR6Y1_HUMAN	A	147	ENSP00000304807:G147A	ENSP00000304807:G147A	G	-	2	0	OR6Y1	156784080	0.000000	0.05858	0.692000	0.30179	0.875000	0.50365	0.305000	0.19254	2.653000	0.90120	0.563000	0.77884	GGC		PASS	0.473	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		17	68	17	68	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158617474	158617474	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:158617474C>T	ENST00000368147.4	-	27	3931	c.3751G>A	c.(3751-3753)Gag>Aag	p.E1251K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1251					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.E1251K(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)					GGATGGGACTCACTGAGCCGC	0.532																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3751-3753)GAG>AAG		spectrin, alpha, erythrocytic 1							70.0	70.0	70.0					1																	158617474		1957	4171	6128	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.chr1:158617474C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3751G>A	1.37:g.158617474C>T	ENSP00000357129:p.Glu1251Lys						p.E1251K	NM_003126	NP_003117	P02549	SPTA1_HUMAN			27	3950	-	all_hematologic(112;0.0378)		1251			Spectrin 12.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3751G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652618	0.67472	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	4.71	4.71	0.59529	.	0.000000	0.32548	N	0.005958	T	0.37625	0.1010	L	0.41710	1.295	0.44162	D	0.996967	P	0.47677	0.899	P	0.52031	0.688	T	0.08827	-1.0703	10	0.35671	T	0.21	.	11.8033	0.52139	0.0:0.7183:0.2817:0.0	.	1251	P02549	SPTA1_HUMAN	K	1251	ENSP00000357130:E1251K;ENSP00000357129:E1251K	ENSP00000357129:E1251K	E	-	1	0	SPTA1	156884098	1.000000	0.71417	0.898000	0.35279	0.291000	0.27294	4.192000	0.58378	2.587000	0.87381	0.563000	0.77884	GAG		PASS	0.532	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		26	100	26	100	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158653176	158653176	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:158653176G>T	ENST00000368147.4	-	3	555	c.375C>A	c.(373-375)gcC>gcA	p.A125A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	125				Missing (in Ref. 3; AAA60575). {ECO:0000305}.	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.A125A(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)					TTTCTTCGTGGGCAGAATGAC	0.378																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(373-375)GCC>GCA		spectrin, alpha, erythrocytic 1							221.0	195.0	203.0					1																	158653176		1844	4096	5940	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158653176G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.375C>A	1.37:g.158653176G>T							p.A125A	NM_003126	NP_003117	P02549	SPTA1_HUMAN			3	574	-	all_hematologic(112;0.0378)		125	Missing (in Ref. 3; AAA60575).		Spectrin 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.375C>A	CCDS41423.1																																																																																				PASS	0.378	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		75	222	75	222	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158908901	158908901	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:158908901G>C	ENST00000368140.1	+	4	688	c.443G>C	c.(442-444)gGa>gCa	p.G148A	PYHIN1_ENST00000368138.3_Missense_Mutation_p.G139A|PYHIN1_ENST00000368135.4_Missense_Mutation_p.G148A|PYHIN1_ENST00000392252.3_Missense_Mutation_p.G139A|PYHIN1_ENST00000392254.2_Missense_Mutation_p.G148A	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	148					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.G148A(2)		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)					GAAGAGACTGGAACCAAAAGG	0.453																																						uc001ftb.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(442-444)GGA>GCA		pyrin and HIN domain family, member 1 alpha 1							75.0	72.0	73.0					1																	158908901		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158908901G>C	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	ENST00000368140.1:c.443G>C	1.37:g.158908901G>C	ENSP00000357122:p.Gly148Ala					PYHIN1_uc001fta.3_Missense_Mutation_p.G148A|PYHIN1_uc001ftc.2_Missense_Mutation_p.G139A|PYHIN1_uc001ftd.2_Missense_Mutation_p.G148A|PYHIN1_uc001fte.2_Missense_Mutation_p.G139A	p.G148A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			4	688	+	all_hematologic(112;0.0378)		148					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.443G>C	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332588	0.24167	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.32515	1.45;3.51;3.53;3.54;3.55;1.71	2.27	-1.86	0.07760	.	.	.	.	.	T	0.11367	0.0277	L	0.51422	1.61	0.09310	N	1	B;B;B;B;P	0.45715	0.162;0.162;0.36;0.245;0.865	B;B;B;B;P	0.47673	0.102;0.102;0.102;0.032;0.554	T	0.12734	-1.0536	9	0.21014	T	0.42	.	3.092	0.06297	0.3903:0.2235:0.3862:0.0	.	139;148;139;148;148	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	A	148;148;139;148;139;148	ENSP00000407616:G148A;ENSP00000357122:G148A;ENSP00000357120:G139A;ENSP00000376083:G148A;ENSP00000376082:G139A;ENSP00000357117:G148A	ENSP00000357117:G148A	G	+	2	0	PYHIN1	157175525	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.205000	0.03014	-0.473000	0.06871	0.557000	0.71058	GGA		PASS	0.453	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		35	81	35	81	---	---	---	---
OR10J3	441911	broad.mit.edu	37	1	159283906	159283906	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:159283906C>A	ENST00000332217.5	-	1	543	c.544G>T	c.(544-546)Gtg>Ttg	p.V182L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V182L(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGTGTCTCACATCACAGAAG	0.498																																						uc010piu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(544-546)GTG>TTG		olfactory receptor, family 10, subfamily J,							83.0	75.0	78.0					1																	159283906		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283906C>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.544G>T	1.37:g.159283906C>A	ENSP00000331789:p.Val182Leu						p.V182L	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	544	-	all_hematologic(112;0.0429)		182			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000332217.5	37	c.544G>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366379	0.41902	.	.	ENSG00000196266	ENST00000332217	T	0.35789	1.29	5.2	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.381204	0.15331	U	0.268020	T	0.11452	0.0279	N	0.05487	-0.04	0.23371	N	0.997812	B	0.32893	0.389	B	0.42163	0.378	T	0.22138	-1.0225	10	0.51188	T	0.08	.	9.6573	0.39934	0.0:0.8313:0.0:0.1687	.	182	Q5JRS4	O10J3_HUMAN	L	182	ENSP00000331789:V182L	ENSP00000331789:V182L	V	-	1	0	OR10J3	157550530	0.000000	0.05858	0.999000	0.59377	0.976000	0.68499	-1.271000	0.02828	0.777000	0.33496	0.561000	0.74099	GTG		PASS	0.498	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			23	98	23	98	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160769666	160769666	+	Missense_Mutation	SNP	C	C	A	rs147015580	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:160769666C>A	ENST00000263285.6	+	2	278	c.248C>A	c.(247-249)cCc>cAc	p.P83H	LY9_ENST00000368041.2_Missense_Mutation_p.P43H|LY9_ENST00000368039.2_Missense_Mutation_p.P83H|LY9_ENST00000341032.4_Missense_Mutation_p.P83H|LY9_ENST00000392203.4_Missense_Mutation_p.P83H|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368037.5_Missense_Mutation_p.P83H			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	83	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P83H(2)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGGATTGGTCCCAAAAATGCT	0.498																																						uc001fwu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(247-249)CCC>CAC		lymphocyte antigen 9 isoform a							96.0	92.0	94.0					1																	160769666		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160769666C>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.248C>A	1.37:g.160769666C>A	ENSP00000263285:p.Pro83His					LY9_uc001fwt.2_Missense_Mutation_p.P83H|LY9_uc010pjs.1_Missense_Mutation_p.P83H|LY9_uc001fwv.2_Missense_Mutation_p.P83H|LY9_uc001fww.2_Missense_Mutation_p.P83H|LY9_uc001fwx.2_Missense_Mutation_p.P83H|LY9_uc001fwy.1_5'UTR	p.P83H	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	298	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		83			Extracellular (Potential).|Ig-like V-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.248C>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579511	0.28180	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037	T;T;T	0.23348	1.91;1.91;1.91	4.04	-3.04	0.05412	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.239730	0.05791	U	0.610441	T	0.15739	0.0379	L	0.39020	1.185	0.09310	N	0.999998	D;D;D;D;D;D	0.76494	0.999;0.994;0.999;0.999;0.999;0.999	D;P;P;D;D;D	0.70487	0.969;0.669;0.887;0.935;0.921;0.969	T	0.10989	-1.0606	10	0.33940	T	0.23	-3.1927	3.0814	0.06264	0.3167:0.2779:0.0:0.4054	.	83;43;83;83;83;83	B4E0J5;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;LY9_HUMAN;.	H	83;83;83;83;83;43;43	ENSP00000342921:P83H;ENSP00000263285:P83H;ENSP00000357018:P83H	ENSP00000263285:P83H	P	+	2	0	LY9	159036290	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.695000	0.05109	-0.486000	0.06744	0.563000	0.77884	CCC		PASS	0.498	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		28	144	28	144	---	---	---	---
RXRG	6258	broad.mit.edu	37	1	165380292	165380292	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:165380292C>T	ENST00000359842.5	-	5	979	c.677G>A	c.(676-678)tGt>tAt	p.C226Y	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	226	Hinge.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.C226Y(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	ACTGGTAGCACATTCTGCCTC	0.493																																						uc001gda.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)TGT>TAT		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						174.0	135.0	148.0					1																	165380292		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165380292C>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.677G>A	1.37:g.165380292C>T	ENSP00000352900:p.Cys226Tyr						p.C226Y	NM_006917	NP_008848	P48443	RXRG_HUMAN			5	977	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		226			Hinge.		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.677G>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	8.907	0.957780	0.18507	.	.	ENSG00000143171	ENST00000359842	T	0.69175	-0.38	4.53	2.56	0.30785	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.169012	0.53938	D	0.000051	T	0.25938	0.0632	N	0.08118	0	0.32551	N	0.5323599999999999	B	0.24533	0.105	B	0.22601	0.04	T	0.04481	-1.0948	9	0.27785	T	0.31	.	12.5654	0.56306	0.0:0.4116:0.5884:0.0	.	226	P48443	RXRG_HUMAN	Y	226	ENSP00000352900:C226Y	ENSP00000352900:C226Y	C	-	2	0	RXRG	163646916	1.000000	0.71417	0.021000	0.16686	0.734000	0.41952	4.413000	0.59795	1.094000	0.41399	0.563000	0.77884	TGT		PASS	0.493	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		27	112	27	112	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167097814	167097814	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:167097814G>T	ENST00000361200.2	+	6	3612	c.3446G>T	c.(3445-3447)aGg>aTg	p.R1149M	DUSP27_ENST00000443333.1_Missense_Mutation_p.R1149M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1149M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1149					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R1149M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAGAAACCAGGACCAAGCTG	0.542																																						uc001geb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3445-3447)AGG>ATG		dual specificity phosphatase 27							33.0	34.0	34.0					1																	167097814		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097814G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3446G>T	1.37:g.167097814G>T	ENSP00000354483:p.Arg1149Met						p.R1149M	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	3446	+			1149					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3446G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347335	0.41599	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03831	3.79;3.79;3.79	5.6	3.39	0.38822	.	0.259745	0.27792	N	0.017826	T	0.03095	0.0091	L	0.57536	1.79	0.30441	N	0.77621	P	0.49447	0.924	P	0.46975	0.533	T	0.27938	-1.0059	10	0.87932	D	0	-25.3865	5.1555	0.15032	0.2966:0.1725:0.5309:0.0	.	1149	Q5VZP5	DUS27_HUMAN	M	1149	ENSP00000354483:R1149M;ENSP00000271385:R1149M;ENSP00000404874:R1149M	ENSP00000271385:R1149M	R	+	2	0	DUSP27	165364438	1.000000	0.71417	0.990000	0.47175	0.796000	0.44982	1.899000	0.39818	1.363000	0.46019	0.549000	0.68633	AGG		PASS	0.542	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		17	52	17	52	---	---	---	---
MROH9	80133	broad.mit.edu	37	1	170959017	170959017	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:170959017A>C	ENST00000367758.3	+	11	1000	c.901A>C	c.(901-903)Att>Ctt	p.I301L	MROH9_ENST00000367759.4_Missense_Mutation_p.I301L	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	301								p.I301L(2)									CGTGGATGCTATTTACAGGCA	0.403																																						uc001ghg.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(901-903)ATT>CTT		hypothetical protein LOC80133 isoform 2							193.0	182.0	185.0					1																	170959017		1890	4115	6005	SO:0001583	missense	80133						binding	g.chr1:170959017A>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.901A>C	1.37:g.170959017A>C	ENSP00000356732:p.Ile301Leu					C1orf129_uc009wvy.2_Missense_Mutation_p.I108L|C1orf129_uc010plz.1_Missense_Mutation_p.I301L	p.I301L	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			11	1031	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		301					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.901A>C	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858082	0.51376	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.20332	3.87;2.08	5.29	5.29	0.74685	Armadillo-like helical (1);	0.000000	0.64402	D	0.000007	T	0.32645	0.0836	M	0.69823	2.125	0.31848	N	0.622596	D;D	0.67145	0.996;0.996	D;D	0.80764	0.994;0.994	T	0.31971	-0.9924	10	0.87932	D	0	-20.7075	11.6258	0.51145	1.0:0.0:0.0:0.0	.	301;301	F5GWX6;Q5TGP6	.;CA129_HUMAN	L	301	ENSP00000356733:I301L;ENSP00000356732:I301L	ENSP00000356732:I301L	I	+	1	0	C1orf129	169225641	0.994000	0.37717	0.821000	0.32701	0.110000	0.19582	4.247000	0.58750	2.002000	0.58637	0.383000	0.25322	ATT		PASS	0.403	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		56	231	56	231	---	---	---	---
SERPINC1	462	broad.mit.edu	37	1	173883815	173883815	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:173883815T>C	ENST00000367698.3	-	2	402	c.284A>G	c.(283-285)tAt>tGt	p.Y95C	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	95			Y -> C (in AT3D; type-I). {ECO:0000269|PubMed:9031473}.|Y -> S (in AT3D; type-I). {ECO:0000269|PubMed:7994035, ECO:0000269|PubMed:9031473}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y95C(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CAGGTGCTGATAGAAAGTGGT	0.517											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CM940130|CM952084	SERPINC1	M		c.(283-285)TAT>TGT		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						135.0	128.0	131.0					1																	173883815		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173883815T>C	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.284A>G	1.37:g.173883815T>C	ENSP00000356671:p.Tyr95Cys		OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1911		p.Y95C	NM_000488	NP_000479	P01008	ANT3_HUMAN			2	403	-			95		Y -> S (in AT3D; type-I).|Y -> C (in AT3D; type-I).			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.284A>G	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510832	0.64522	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.85339	-1.97	5.67	5.67	0.87782	Serpin domain (3);	0.058055	0.64402	D	0.000001	D	0.91673	0.7368	M	0.83852	2.665	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.93059	0.6472	10	0.87932	D	0	.	15.909	0.79456	0.0:0.0:0.0:1.0	.	95	P01008	ANT3_HUMAN	C	95	ENSP00000356671:Y95C	ENSP00000307953:Y95C	Y	-	2	0	SERPINC1	172150438	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.600000	0.61083	2.155000	0.67459	0.459000	0.35465	TAT		PASS	0.517	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		94	271	94	271	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175092565	175092565	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:175092565G>A	ENST00000239462.4	+	12	2793	c.2680G>A	c.(2680-2682)Gac>Aac	p.D894N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	894	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.D894N(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)		CCTAGTGACTGACTGGGTGAC	0.483																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2680-2682)GAC>AAC		tenascin N precursor							62.0	64.0	63.0					1																	175092565		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175092565G>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.2680G>A	1.37:g.175092565G>A	ENSP00000239462:p.Asp894Asn						p.D894N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	12	2793	+		Breast(1374;0.000962)	894			Fibronectin type-III 8.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2680G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	0.671	-0.801995	0.02841	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57273	0.41	4.98	-0.53	0.11898	Fibronectin, type III (4);	0.622186	0.17348	N	0.177514	T	0.32376	0.0827	N	0.21282	0.65	0.09310	N	1	B	0.15473	0.013	B	0.22880	0.042	T	0.23190	-1.0195	10	0.16420	T	0.52	.	8.9149	0.35576	0.4881:0.0:0.5119:0.0	.	894	Q9UQP3	TENN_HUMAN	N	894;717	ENSP00000239462:D894N	ENSP00000239462:D894N	D	+	1	0	TNN	173359188	0.000000	0.05858	0.002000	0.10522	0.067000	0.16453	-0.071000	0.11505	0.051000	0.15978	0.462000	0.41574	GAC		PASS	0.483	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		28	103	28	103	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175335049	175335049	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:175335049C>G	ENST00000367674.2	-	11	2987	c.2279G>C	c.(2278-2280)cGg>cCg	p.R760P	TNR_ENST00000263525.2_Missense_Mutation_p.R760P			Q92752	TENR_HUMAN	tenascin R	760	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R760P(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCTCTGCTGCCGACCCCTCTC	0.532																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2278-2280)CGG>CCG		tenascin R precursor							128.0	121.0	124.0					1																	175335049		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175335049C>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2279G>C	1.37:g.175335049C>G	ENSP00000356646:p.Arg760Pro					TNR_uc009wwu.1_Missense_Mutation_p.R760P	p.R760P	NM_003285	NP_003276	Q92752	TENR_HUMAN			9	2360	-	Renal(580;0.146)		760			Fibronectin type-III 5.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2279G>C	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408777	0.83340	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57595	0.39;0.39	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	L	0.48877	1.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60500	-0.7251	10	0.30078	T	0.28	.	19.9878	0.97354	0.0:1.0:0.0:0.0	.	760	Q92752	TENR_HUMAN	P	760	ENSP00000356646:R760P;ENSP00000263525:R760P	ENSP00000263525:R760P	R	-	2	0	TNR	173601672	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.346000	0.79347	2.819000	0.97034	0.650000	0.86243	CGG		PASS	0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		54	133	54	133	---	---	---	---
C1ORF220	400798	broad.mit.edu	37	1	178514779	178514779	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:178514779G>T	ENST00000367636.4	+	2	503	c.165G>T	c.(163-165)tgG>tgT	p.W55C	C1orf220_ENST00000319387.2_3'UTR|C1orf220_ENST00000521244.1_3'UTR														p.W55C(1)									CAAGTGAGTGGGCCACGAAGG	0.562																																						uc001glx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)TGG>TGT		hypothetical protein LOC400798							97.0	76.0	83.0					1																	178514779		2203	4300	6503	SO:0001583	missense	400798							g.chr1:178514779G>T																												ENST00000367636.4:c.165G>T	1.37:g.178514779G>T	ENSP00000356608:p.Trp55Cys					C1orf49_uc001glv.1_Intron	p.W55C	NM_207467	NP_997350					2	522	+									Missense_Mutation	SNP	ENST00000367636.4	37	c.165G>T		.	.	.	.	.	.	.	.	.	.	G	2.863	-0.235766	0.05944	.	.	ENSG00000184909	ENST00000367636	T	0.23348	1.91	3.47	-6.83	0.01693	.	.	.	.	.	T	0.09598	0.0236	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30621	-0.9972	7	.	.	.	.	0.7763	0.01033	0.2419:0.1977:0.3538:0.2066	.	55	Q5T0J3	CA220_HUMAN	C	55	ENSP00000356608:W55C	.	W	+	3	0	AL513013.1	176781402	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.936000	0.03946	-1.454000	0.01926	-1.567000	0.00876	TGG		PASS	0.562	C1ORF220-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				34	88	34	88	---	---	---	---
LHX4	89884	broad.mit.edu	37	1	180235536	180235536	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:180235536C>A	ENST00000263726.2	+	3	502	c.258C>A	c.(256-258)ggC>ggA	p.G86G		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	86	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|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.G86G(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGCGCTTCGGCACAAAATGCA	0.607																																						uc001goe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(256-258)GGC>GGA		LIM homeobox protein 4							59.0	59.0	59.0					1																	180235536		2203	4300	6503	SO:0001819	synonymous_variant	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180235536C>A	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.258C>A	1.37:g.180235536C>A							p.G86G	NM_033343	NP_203129	Q969G2	LHX4_HUMAN			3	481	+			86			LIM zinc-binding 1.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	37	c.258C>A	CCDS1338.1																																																																																				PASS	0.607	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		38	126	38	126	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186277377	186277377	+	Silent	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:186277377T>A	ENST00000445192.2	+	7	2571	c.2526T>A	c.(2524-2526)ccT>ccA	p.P842P	PRG4_ENST00000367486.3_Silent_p.P799P|PRG4_ENST00000367484.3_Silent_p.P371P|PRG4_ENST00000367483.4_Silent_p.P801P|PRG4_ENST00000367485.4_Silent_p.P749P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	842	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P842P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAAGAAGCCTGCTCCAACTA	0.552																																						uc001gru.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2524-2526)CCT>CCA		proteoglycan 4 isoform A							197.0	229.0	218.0					1																	186277377		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277377T>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2526T>A	1.37:g.186277377T>A						PRG4_uc001grt.3_Silent_p.P801P|PRG4_uc009wyl.2_Silent_p.P749P|PRG4_uc009wym.2_Silent_p.P708P|PRG4_uc010poo.1_RNA	p.P842P	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2577	+			842			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|58.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2526T>A	CCDS1369.1																																																																																				PASS	0.552	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		107	401	107	401	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190250753	190250753	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:190250753G>T	ENST00000367462.3	-	3	595	c.364C>A	c.(364-366)Caa>Aaa	p.Q122K	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	122	MACPF.				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.Q122K(1)									TCTGTGATTTGCTGAAGGGTA	0.463																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(364-366)CAA>AAA		family with sequence similarity 5, member C							94.0	90.0	91.0					1																	190250753		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190250753G>T	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.364C>A	1.37:g.190250753G>T	ENSP00000356432:p.Gln122Lys					FAM5C_uc010pot.1_Intron	p.Q122K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			3	596	-	Prostate(682;0.198)		122					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.364C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333471	0.60853	.	.	ENSG00000162670	ENST00000367462	D	0.83914	-1.78	5.67	5.67	0.87782	Membrane attack complex component/perforin (MACPF) domain (2);	0.120946	0.64402	D	0.000020	T	0.76772	0.4034	L	0.28115	0.83	0.80722	D	1	B	0.28820	0.224	B	0.30782	0.12	T	0.74896	-0.3508	10	0.52906	T	0.07	.	17.2529	0.87047	0.0:0.0:1.0:0.0	.	122	Q76B58	FAM5C_HUMAN	K	122	ENSP00000356432:Q122K	ENSP00000356432:Q122K	Q	-	1	0	FAM5C	188517376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.240000	0.65378	2.677000	0.91161	0.585000	0.79938	CAA		PASS	0.463	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		39	160	39	160	---	---	---	---
FAM58BP	339521	broad.mit.edu	37	1	200183141	200183141	+	IGR	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:200183141C>G								NR5A2 (36589 upstream) : RP11-532L16.3 (101421 downstream)																							AGTACCTGCTCTACTACCTGG	0.612																																						uc009wzi.1																			0					0						c.(448-450)CTC>CTG		family with sequence similarity 58 member B							58.0	57.0	57.0					1																	200183141		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183141C>G																													1.37:g.200183141C>G							p.L150L	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	486	+	Prostate(682;0.19)		150						Silent	SNP		37	c.450C>G																																																																																				0	PASS	0.612									43	101	43	101	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201839870	201839870	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:201839870C>T	ENST00000361565.4	+	18	2362	c.2293C>T	c.(2293-2295)Cgc>Tgc	p.R765C		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	765					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.R765C(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTTTGTGGGCCGCCTTGTTTC	0.582																																						uc001gwz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2293-2295)CGC>TGC		importin 9							61.0	61.0	61.0					1																	201839870		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201839870C>T	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2293C>T	1.37:g.201839870C>T	ENSP00000354742:p.Arg765Cys						p.R765C	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			18	2343	+			765					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.2293C>T	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493140	0.84962	.	.	ENSG00000198700	ENST00000361565	T	0.68025	-0.3	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.80692	-0.1269	10	0.59425	D	0.04	-8.3256	17.091	0.86622	0.0:1.0:0.0:0.0	.	765	Q96P70	IPO9_HUMAN	C	765	ENSP00000354742:R765C	ENSP00000354742:R765C	R	+	1	0	IPO9	200106493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.233000	0.43027	2.629000	0.89072	0.591000	0.81541	CGC		PASS	0.582	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		39	137	39	137	---	---	---	---
KLHL12	59349	broad.mit.edu	37	1	202888999	202888999	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:202888999C>G	ENST00000367261.3	-	3	451	c.233G>C	c.(232-234)gGt>gCt	p.G78A	KLHL12_ENST00000435533.3_Missense_Mutation_p.G116A	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	78	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)		p.G78A(1)		NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCAGTCAAACCTTGGATGTC	0.393																																						uc001gyo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)GGT>GCT		kelch-like 12							88.0	81.0	84.0					1																	202888999		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202888999C>G	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.233G>C	1.37:g.202888999C>G	ENSP00000356230:p.Gly78Ala					KLHL12_uc001gyn.1_5'Flank|KLHL12_uc010pqc.1_Missense_Mutation_p.G116A|KLHL12_uc009xah.1_Missense_Mutation_p.G78A	p.G78A	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	433	-			78			BTB.		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.233G>C	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021321	0.93462	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.71817	-0.6;-0.6;-0.6	5.55	5.55	0.83447	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	L	0.52011	1.625	0.80722	D	1	D;D;D	0.76494	0.988;0.999;0.999	P;D;D	0.81914	0.893;0.995;0.995	T	0.80065	-0.1538	10	0.46703	T	0.11	.	19.8621	0.96787	0.0:1.0:0.0:0.0	.	116;116;78	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	A	78;116;116	ENSP00000356230:G78A;ENSP00000416886:G116A;ENSP00000356227:G116A	ENSP00000356227:G116A	G	-	2	0	KLHL12	201155622	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.770000	0.95276	0.563000	0.77884	GGT		PASS	0.393	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		25	99	25	99	---	---	---	---
CDK18	5129	broad.mit.edu	37	1	205495906	205495906	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:205495906A>T	ENST00000360066.2	+	8	971	c.670A>T	c.(670-672)Agt>Tgt	p.S224C	CDK18_ENST00000429964.2_Missense_Mutation_p.S224C|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Missense_Mutation_p.S254C	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.S224C(1)|p.S254C(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GTTCCAGGACAGTGACCTGAA	0.632																																					Pancreas(180;489 2072 28461 40831 44265)	uc001hcr.2																			2	Substitution - Missense(2)		lung(2)	stomach(2)	2						c.(760-762)AGT>TGT		PCTAIRE protein kinase 3 isoform a							171.0	148.0	156.0					1																	205495906		2203	4300	6503	SO:0001583	missense	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205495906A>T	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.670A>T	1.37:g.205495906A>T	ENSP00000353176:p.Ser224Cys					CDK18_uc010pri.1_3'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.S224C|CDK18_uc001hcq.2_Missense_Mutation_p.S224C|CDK18_uc010prj.1_Missense_Mutation_p.S135C|CDK18_uc001hcs.2_Missense_Mutation_p.S135C|CDK18_uc009xbm.1_Missense_Mutation_p.S149C|CDK18_uc001hct.2_5'Flank	p.S254C	NM_212503	NP_997668	Q07002	CDK18_HUMAN			8	979	+			222			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	c.760A>T	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701408	0.68501	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000478560;ENST00000419301	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	4.91	3.75	0.43078	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.152425	0.64402	D	0.000001	T	0.40595	0.1123	N	0.10707	0.03	0.53005	D	0.999966	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.18871	0.02;0.019;0.023	T	0.19679	-1.0298	10	0.51188	T	0.08	-3.9317	9.8914	0.41292	0.8276:0.1724:0.0:0.0	.	222;254;224	Q07002;Q07002-3;Q07002-2	CDK18_HUMAN;.;.	C	224;254;224;135;254	ENSP00000399082:S224C;ENSP00000423665:S254C;ENSP00000353176:S224C;ENSP00000423408:S135C;ENSP00000391324:S254C	ENSP00000353176:S224C	S	+	1	0	CDK18	203762529	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.262000	0.78410	0.698000	0.31739	0.459000	0.35465	AGT		PASS	0.632	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		73	259	73	259	---	---	---	---
SLC45A3	85414	broad.mit.edu	37	1	205632558	205632558	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:205632558C>G	ENST00000367145.3	-	3	656	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	121					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.E121Q(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGTGCCAGCTCCAGGGGCCTG	0.652			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	uc001hda.1				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	ETV1|ETV5|ELK4|ERG		prostate 	SLC45A3/BRAF(2)	1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(2)	4						c.(361-363)GAG>CAG		prostein							16.0	18.0	17.0					1																	205632558		2193	4288	6481	SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205632558C>G	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.361G>C	1.37:g.205632558C>G	ENSP00000356113:p.Glu121Gln					SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	p.E121Q	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	700	-	Breast(84;0.07)		121			Helical; Name=4; (Potential).		A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.361G>C	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196017	0.38806	.	.	ENSG00000158715	ENST00000367145	D	0.92805	-3.11	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);	0.096119	0.64402	D	0.000001	D	0.86636	0.5980	N	0.13043	0.29	0.40013	D	0.975317	B	0.31519	0.327	B	0.32393	0.145	D	0.85448	0.1159	10	0.49607	T	0.09	-21.8352	19.3614	0.94440	0.0:1.0:0.0:0.0	.	121	Q96JT2	S45A3_HUMAN	Q	121	ENSP00000356113:E121Q	ENSP00000356113:E121Q	E	-	1	0	SLC45A3	203899181	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.119000	0.64679	2.735000	0.93741	0.655000	0.94253	GAG		PASS	0.652	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		15	25	15	25	---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222716923	222716923	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:222716923C>T	ENST00000343410.6	-	2	988	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	310					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.K310K(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCCGAGAAACCTTCATCTCAC	0.443																																						uc001hnh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(928-930)AAG>AAA		HHIP-like 2 precursor							279.0	306.0	297.0					1																	222716923		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222716923C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.930G>A	1.37:g.222716923C>T							p.K310K	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	988	-			310					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.930G>A	CCDS1530.2																																																																																				PASS	0.443	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		20	785	20	785	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232561495	232561495	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:232561495C>G	ENST00000366630.1	-	17	4828	c.4470G>C	c.(4468-4470)gaG>gaC	p.E1490D	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E1490D|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.E564D			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1490					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.E1490D(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGCAGATGCTCTCGTCAGACA	0.552																																						uc001hvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(4468-4470)GAG>GAC		signal-induced proliferation-associated 1 like							70.0	83.0	78.0					1																	232561495		2181	4283	6464	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232561495C>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4470G>C	1.37:g.232561495C>G	ENSP00000355589:p.Glu1490Asp					SIPA1L2_uc001hvf.2_Missense_Mutation_p.E564D	p.E1490D	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			16	4628	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1490					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.4470G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670401	0.67814	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.59364	0.27;0.27;0.27	5.66	2.75	0.32379	.	0.114503	0.64402	D	0.000017	T	0.71558	0.3354	M	0.76170	2.325	0.41995	D	0.990864	D;D	0.71674	0.996;0.998	D;D	0.77557	0.924;0.99	T	0.73257	-0.4040	10	0.87932	D	0	-44.1837	9.3019	0.37851	0.0:0.6432:0.0:0.3568	.	1490;564	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	D	1490;1490;564	ENSP00000355589:E1490D;ENSP00000262861:E1490D;ENSP00000309102:E564D	ENSP00000262861:E1490D	E	-	3	2	SIPA1L2	230628118	0.977000	0.34250	0.997000	0.53966	0.694000	0.40290	0.250000	0.18235	0.864000	0.35578	0.650000	0.86243	GAG		PASS	0.552	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	92	6	92	---	---	---	---
MAP10	54627	broad.mit.edu	37	1	232942722	232942722	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:232942722G>T	ENST00000418460.1	+	1	2080	c.1953G>T	c.(1951-1953)ctG>ctT	p.L651L		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	509					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.L651L(2)									GTTTAAAGCTGACAAATCCTG	0.353																																						uc001hvh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1951-1953)CTG>CTT		hypothetical protein LOC54627							41.0	39.0	40.0					1																	232942722		1828	4088	5916	SO:0001819	synonymous_variant	54627							g.chr1:232942722G>T	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1953G>T	1.37:g.232942722G>T							p.L651L	NM_019090	NP_061963	Q9P2G4	K1383_HUMAN			1	2085	+		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)	509					A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Silent	SNP	ENST00000418460.1	37	c.1953G>T	CCDS44334.1																																																																																				PASS	0.353	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		11	53	11	53	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237494253	237494253	+	Missense_Mutation	SNP	C	C	A	rs572934844		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:237494253C>A	ENST00000366574.2	+	3	561	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	RYR2_ENST00000542537.1_Missense_Mutation_p.L66M|RYR2_ENST00000360064.6_Nonsense_Mutation_p.C79*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	82					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.C79*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAGGAGATGCTGGCTAACAC	0.493																																						uc001hyl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(244-246)CTG>ATG		cardiac muscle ryanodine receptor							96.0	103.0	101.0					1																	237494253		2041	4226	6267	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237494253C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.244C>A	1.37:g.237494253C>A	ENSP00000355533:p.Leu82Met						p.L82M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		3	364	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	82			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.244C>A	CCDS55691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.533117|5.533117	0.96460|0.96460	.|.	.|.	ENSG00000198626|ENSG00000198626	ENST00000360064|ENST00000366574;ENST00000542537	.|D;D	.|0.98585	.|-5.01;-5.01	5.17|5.17	2.31|2.31	0.28768|0.28768	.|Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	2.840400|.	0.01527|.	U|.	0.018602|.	.|D	.|0.97629	.|0.9223	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	.|D	.|0.95147	.|0.8269	.|9	0.02654|0.35671	T|T	1|0.21	.|.	7.5367|7.5367	0.27714|0.27714	0.0:0.5797:0.0:0.4203|0.0:0.5797:0.0:0.4203	.|.	.|82	.|Q92736	.|RYR2_HUMAN	X|M	79|82;66	.|ENSP00000355533:L82M;ENSP00000443798:L66M	ENSP00000353174:C79X|ENSP00000355533:L82M	C|L	+|+	3|1	2|2	RYR2|RYR2	235560876|235560876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.878000|0.878000	0.28126|0.28126	0.201000|0.201000	0.20466|0.20466	-0.224000|-0.224000	0.12420|0.12420	TGC|CTG		PASS	0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		28	125	28	125	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237608766	237608766	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:237608766A>T	ENST00000366574.2	+	14	1553	c.1236A>T	c.(1234-1236)gaA>gaT	p.E412D	RYR2_ENST00000542537.1_Missense_Mutation_p.E396D|RYR2_ENST00000360064.6_Missense_Mutation_p.E410D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	412					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E410D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCATGAAGAATCACGCACAG	0.403																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1234-1236)GAA>GAT		cardiac muscle ryanodine receptor							156.0	150.0	152.0					1																	237608766		1924	4136	6060	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237608766A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1236A>T	1.37:g.237608766A>T	ENSP00000355533:p.Glu412Asp						p.E412D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		14	1356	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	412			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1236A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.585286	0.46110	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97209	-4.29;-4.26;-4.28	5.84	-0.148	0.13424	.	0.000000	0.64402	D	0.000004	D	0.95626	0.8578	M	0.76328	2.33	0.80722	D	1	P	0.49447	0.924	B	0.43950	0.437	D	0.93219	0.6607	10	0.87932	D	0	-17.0098	10.3896	0.44160	0.5814:0.0:0.4186:0.0	.	412	Q92736	RYR2_HUMAN	D	412;410;396	ENSP00000355533:E412D;ENSP00000353174:E410D;ENSP00000443798:E396D	ENSP00000353174:E410D	E	+	3	2	RYR2	235675389	0.989000	0.36119	0.998000	0.56505	0.028000	0.11728	0.264000	0.18497	0.152000	0.19188	-0.326000	0.08463	GAA		PASS	0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		30	147	30	147	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238045744	238045744	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:238045744C>G	ENST00000366570.4	-	12	1759	c.1601G>C	c.(1600-1602)tGc>tCc	p.C534S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	534					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.C534S(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTGGTCTGGGCAACTCTTCTG	0.443																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1600-1602)TGC>TCC		zona pellucida glycoprotein 4 preproprotein							144.0	146.0	145.0					1																	238045744		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238045744C>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1601G>C	1.37:g.238045744C>G	ENSP00000355529:p.Cys534Ser					LOC100130331_uc010pyc.1_Intron	p.C534S	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		12	1601	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	534			Cytoplasmic (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.1601G>C	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	7.563	0.665091	0.14710	.	.	ENSG00000116996	ENST00000366570	T	0.73363	-0.74	3.36	-6.72	0.01755	.	.	.	.	.	T	0.44644	0.1303	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	9	0.14252	T	0.57	0.0012	6.5038	0.22184	0.0:0.3103:0.4649:0.2248	.	534	Q12836	ZP4_HUMAN	S	534	ENSP00000355529:C534S	ENSP00000355529:C534S	C	-	2	0	ZP4	236112367	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.938000	0.03938	-1.617000	0.01570	-0.672000	0.03802	TGC		PASS	0.443	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			64	221	64	221	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247588146	247588146	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:247588146G>C	ENST00000336119.3	+	3	2147	c.1401G>C	c.(1399-1401)tgG>tgC	p.W467C	NLRP3_ENST00000391827.2_Missense_Mutation_p.W467C|NLRP3_ENST00000366497.2_Missense_Mutation_p.W467C|NLRP3_ENST00000391828.3_Missense_Mutation_p.W467C|NLRP3_ENST00000366496.2_Missense_Mutation_p.W467C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.W467C	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	467	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.W467C(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCCACCTCTGGGGGCTCTGCT	0.587																																						uc001icr.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1399-1401)TGG>TGC		NLR family, pyrin domain containing 3 isoform a							26.0	26.0	26.0					1																	247588146		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588146G>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1401G>C	1.37:g.247588146G>C	ENSP00000337383:p.Trp467Cys					NLRP3_uc001ics.2_Missense_Mutation_p.W467C|NLRP3_uc001icu.2_Missense_Mutation_p.W467C|NLRP3_uc001icw.2_Missense_Mutation_p.W467C|NLRP3_uc001icv.2_Missense_Mutation_p.W467C|NLRP3_uc010pyw.1_Missense_Mutation_p.W465C|NLRP3_uc001ict.1_Missense_Mutation_p.W465C	p.W467C	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1539	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	467			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1401G>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958084	0.18507	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01	4.17	-2.12	0.07165	NACHT nucleoside triphosphatase (1);	0.588771	0.15395	N	0.264616	D	0.85873	0.5798	N	0.19112	0.55	0.18873	N	0.999985	P;P;P;P;P	0.50943	0.92;0.918;0.94;0.778;0.67	B;B;P;B;B	0.54460	0.174;0.325;0.753;0.195;0.095	T	0.76626	-0.2890	10	0.59425	D	0.04	.	0.474	0.00536	0.2212:0.1541:0.3109:0.3139	.	467;467;467;467;467	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	C	467	ENSP00000375704:W467C;ENSP00000355453:W467C;ENSP00000337383:W467C;ENSP00000294752:W467C;ENSP00000355452:W467C;ENSP00000375703:W467C	ENSP00000337383:W467C	W	+	3	0	NLRP3	245654769	0.002000	0.14202	0.006000	0.13384	0.113000	0.19764	0.192000	0.17096	-0.354000	0.08212	0.655000	0.94253	TGG		PASS	0.587	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		16	68	16	68	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247920935	247920935	+	Silent	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:247920935G>C	ENST00000408896.2	-	1	1047	c.774C>G	c.(772-774)gtC>gtG	p.V258V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	258					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V258V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCTGAAATAGACGGCGATGG	0.517																																						uc010pza.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(772-774)GTC>GTG		olfactory receptor, family 1, subfamily C,							72.0	71.0	72.0					1																	247920935		2040	4211	6251	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920935G>C	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.774C>G	1.37:g.247920935G>C							p.V258V	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	774	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	258			Helical; Name=6; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.774C>G	CCDS41481.1																																																																																				PASS	0.517	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			17	82	17	82	---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248550957	248550957	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:248550957G>T	ENST00000355728.2	+	1	48	c.48G>T	c.(46-48)ggG>ggT	p.G16G		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16G(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTCATGGGGCTCTTCACTC	0.423																																						uc001iei.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(46-48)GGG>GGT		olfactory receptor, family 2, subfamily T,							135.0	132.0	133.0					1																	248550957		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248550957G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.48G>T	1.37:g.248550957G>T							p.G16G	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	48	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		16			Extracellular (Potential).		A6NE36	Silent	SNP	ENST00000355728.2	37	c.48G>T	CCDS31114.1																																																																																				PASS	0.423	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		11	131	11	131	---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248551209	248551209	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:248551209G>T	ENST00000355728.2	+	1	300	c.300G>T	c.(298-300)caG>caT	p.Q100H		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100H(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCACTGCTCAGTGCTTTCTCT	0.532																																						uc001iei.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(298-300)CAG>CAT		olfactory receptor, family 2, subfamily T,							113.0	115.0	114.0					1																	248551209		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551209G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.300G>T	1.37:g.248551209G>T	ENSP00000347965:p.Gln100His						p.Q100H	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	300	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		100			Helical; Name=3; (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.300G>T	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993949	0.35131	.	.	ENSG00000198104	ENST00000355728	T	0.00472	7.19	4.38	1.44	0.22558	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000665	T	0.01940	0.0061	H	0.95780	3.72	0.34440	D	0.699524	D	0.89917	1.0	D	0.91635	0.999	T	0.15694	-1.0428	10	0.87932	D	0	.	9.2776	0.37709	0.2425:0.0:0.7575:0.0	.	100	Q8NHC8	OR2T6_HUMAN	H	100	ENSP00000347965:Q100H	ENSP00000347965:Q100H	Q	+	3	2	OR2T6	246617832	0.137000	0.22531	0.891000	0.34965	0.236000	0.25371	0.219000	0.17641	0.210000	0.20664	-0.152000	0.13540	CAG		PASS	0.532	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		39	92	39	92	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248737471	248737471	+	Missense_Mutation	SNP	G	G	C	rs373688678		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr1:248737471G>C	ENST00000328782.2	-	1	609	c.588C>G	c.(586-588)gaC>gaG	p.D196E		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D196E(1)|p.D196D(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGGGAGACGTCAGAGCAGG	0.517																																						uc001iep.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	large_intestine(1)|ovary(1)	2						c.(586-588)GAC>GAG		olfactory receptor, family 2, subfamily T,							148.0	167.0	161.0					1																	248737471		2144	4300	6444	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737471G>C	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.588C>G	1.37:g.248737471G>C	ENSP00000330904:p.Asp196Glu						p.D196E	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	588	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		196			Extracellular (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.588C>G	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	14.33	2.503985	0.44558	.	.	ENSG00000183310	ENST00000328782	T	0.00227	8.5	2.37	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	M	0.83603	2.65	0.19945	N	0.999945	P	0.49447	0.924	P	0.53185	0.72	T	0.35674	-0.9779	9	0.66056	D	0.02	.	7.567	0.27885	0.3131:0.0:0.6869:0.0	.	196	Q8NGX1	O2T34_HUMAN	E	196	ENSP00000330904:D196E	ENSP00000330904:D196E	D	-	3	2	OR2T34	246804094	0.010000	0.17322	0.003000	0.11579	0.132000	0.20833	0.259000	0.18405	-0.621000	0.05633	-1.475000	0.01000	GAC		PASS	0.517	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		65	524	65	524	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17902509	17902509	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:17902509C>A	ENST00000448223.2	-	10	1015	c.746G>T	c.(745-747)cGc>cTc	p.R249L	SMC6_ENST00000351948.4_Missense_Mutation_p.R249L|SMC6_ENST00000381272.4_Missense_Mutation_p.R275L|SMC6_ENST00000402989.1_Missense_Mutation_p.R249L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	249					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.R249L(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACACACTGGCGCTTTAGTTC	0.328																																						uc002rco.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6						c.(745-747)CGC>CTC		SMC6 protein							90.0	85.0	87.0					2																	17902509		2202	4300	6502	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17902509C>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.746G>T	2.37:g.17902509C>A	ENSP00000404092:p.Arg249Leu					SMC6_uc010exo.2_Missense_Mutation_p.R249L|SMC6_uc002rcn.2_Missense_Mutation_p.R249L|SMC6_uc002rcp.1_Missense_Mutation_p.R275L|SMC6_uc002rcq.2_Missense_Mutation_p.R275L|SMC6_uc002rcr.1_Missense_Mutation_p.R249L	p.R249L	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN			10	1042	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		249			Potential.		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.746G>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791338	0.31685	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	5.88	4.1	0.47936	RecF/RecN/SMC (1);	0.361714	0.33217	N	0.005156	T	0.07007	0.0178	L	0.46157	1.445	0.44275	D	0.997135	B;B;B	0.24651	0.027;0.108;0.034	B;B;B	0.29176	0.028;0.087;0.099	T	0.22347	-1.0219	10	0.51188	T	0.08	.	5.7309	0.18038	0.1369:0.6494:0.0:0.2137	.	275;275;249	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	L	249;249;275;249;275	ENSP00000404092:R249L;ENSP00000323439:R249L;ENSP00000370672:R275L;ENSP00000384539:R249L;ENSP00000408644:R275L	ENSP00000323439:R249L	R	-	2	0	SMC6	17765990	0.984000	0.35163	1.000000	0.80357	0.805000	0.45488	0.383000	0.20651	0.841000	0.35020	0.591000	0.81541	CGC		PASS	0.328	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		11	130	11	130	---	---	---	---
APOB	338	broad.mit.edu	37	2	21246424	21246424	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:21246424C>G	ENST00000233242.1	-	17	2704	c.2577G>C	c.(2575-2577)aaG>aaC	p.K859N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	859					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.K859N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTCCAGCCTTGGCTCCGG	0.413																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2575-2577)AAG>AAC		apolipoprotein B precursor	Atorvastatin(DB01076)						108.0	103.0	105.0					2																	21246424		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21246424C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2577G>C	2.37:g.21246424C>G	ENSP00000233242:p.Lys859Asn						p.K859N	NM_000384	NP_000375	P04114	APOB_HUMAN			17	2705	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		859					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2577G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398342	0.42512	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.19394	2.15	5.35	0.343	0.16001	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.291003	0.29300	N	0.012555	T	0.31513	0.0799	M	0.76002	2.32	0.80722	D	1	D	0.58268	0.982	P	0.57620	0.824	T	0.09378	-1.0677	10	0.87932	D	0	.	2.7449	0.05264	0.1212:0.4905:0.1186:0.2696	.	859	P04114	APOB_HUMAN	N	859	ENSP00000233242:K859N	ENSP00000233242:K859N	K	-	3	2	APOB	21099929	0.823000	0.29233	0.448000	0.26945	0.296000	0.27459	0.128000	0.15810	0.058000	0.16222	0.655000	0.94253	AAG		PASS	0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			22	183	22	183	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27156171	27156171	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:27156171G>C	ENST00000288699.6	+	7	918	c.760G>C	c.(760-762)Ggt>Cgt	p.G254R	DPYSL5_ENST00000401478.1_Missense_Mutation_p.G254R	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	254					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.G254R(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATCTCGGCTGGTGACGTTAT	0.517																																						uc002rhu.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(760-762)GGT>CGT		dihydropyrimidinase-like 5							238.0	171.0	194.0					2																	27156171		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27156171G>C	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.760G>C	2.37:g.27156171G>C	ENSP00000288699:p.Gly254Arg					DPYSL5_uc002rhv.3_Missense_Mutation_p.G254R	p.G254R	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			7	918	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		254					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.760G>C	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180229	0.94846	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.89875	-2.58;-2.58	6.04	6.04	0.98038	Amidohydrolase 1 (1);	0.047259	0.85682	D	0.000000	D	0.86965	0.6060	L	0.42686	1.345	0.58432	D	0.999997	B	0.25563	0.129	B	0.25759	0.063	T	0.83245	-0.0056	10	0.72032	D	0.01	-14.3426	19.3507	0.94384	0.0:0.0:1.0:0.0	.	254	Q9BPU6	DPYL5_HUMAN	R	254	ENSP00000288699:G254R;ENSP00000385549:G254R	ENSP00000288699:G254R	G	+	1	0	DPYSL5	27009675	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.935000	0.92923	2.873000	0.98535	0.561000	0.74099	GGT		PASS	0.517	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		14	147	14	147	---	---	---	---
MPV17	4358	broad.mit.edu	37	2	27545374	27545374	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:27545374C>A	ENST00000380044.1	-	2	66	c.11G>T	c.(10-12)tGg>tTg	p.W4L	MPV17_ENST00000233545.2_Missense_Mutation_p.W4L|MPV17_ENST00000405983.1_Missense_Mutation_p.W4L|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000402722.1_Missense_Mutation_p.W4L|MPV17_ENST00000399052.4_Missense_Mutation_p.W4L|MPV17_ENST00000405076.1_Missense_Mutation_p.W4L|MPV17_ENST00000403262.2_Missense_Mutation_p.W4L|MPV17_ENST00000402310.1_Missense_Mutation_p.W4L	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	4					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)		p.W4L(2)		lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTATGCCCGCCAGAGTGCCAT	0.627																																						uc002rjr.2																			2	Substitution - Missense(2)		lung(2)		0						c.(10-12)TGG>TTG		Mpv17 protein							54.0	59.0	57.0					2																	27545374		2203	4300	6503	SO:0001583	missense	4358				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane		g.chr2:27545374C>A		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"""glomerulosclerosis"""	137960	"""MpV17 transgene, murine homolog, glomerulosclerosis"""			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.11G>T	2.37:g.27545374C>A	ENSP00000369383:p.Trp4Leu					MPV17_uc002rjq.2_Missense_Mutation_p.W4L|MPV17_uc002rjs.2_Missense_Mutation_p.W4L|MPV17_uc002rjt.2_Intron	p.W4L	NM_002437	NP_002428	P39210	MPV17_HUMAN			1	58	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4					D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	ENST00000380044.1	37	c.11G>T	CCDS1748.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752566	0.69533	.	.	ENSG00000115204	ENST00000402310;ENST00000233545;ENST00000380044;ENST00000402722;ENST00000405983;ENST00000405076;ENST00000403262;ENST00000399052	D;D;D;D;D;D;D;D	0.92752	-2.13;-2.52;-2.52;-1.89;-3.1;-2.98;-2.05;-1.97	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	L	0.46567	1.45	0.28034	N	0.934005	B;D	0.89917	0.179;1.0	B;D	0.91635	0.057;0.999	D	0.87208	0.2245	10	0.25751	T	0.34	.	13.2759	0.60188	0.0:1.0:0.0:0.0	.	4;4	P39210;B5MC53	MPV17_HUMAN;.	L	4	ENSP00000383955:W4L;ENSP00000233545:W4L;ENSP00000369383:W4L;ENSP00000386000:W4L;ENSP00000384586:W4L;ENSP00000385175:W4L;ENSP00000385671:W4L;ENSP00000382006:W4L	ENSP00000233545:W4L	W	-	2	0	MPV17	27398878	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.966000	0.56795	2.585000	0.87301	0.555000	0.69702	TGG		PASS	0.627	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		14	136	14	136	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27565913	27565913	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:27565913G>T	ENST00000359541.2	-	3	778	c.349C>A	c.(349-351)Cct>Act	p.P117T	GTF3C2_ENST00000264720.3_Missense_Mutation_p.P117T|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	117					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.P117T(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGATTAGGCTGTTGGGGC	0.537																																						uc002rjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(349-351)CCT>ACT		general transcription factor IIIC, polypeptide							98.0	93.0	95.0					2																	27565913		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27565913G>T	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.349C>A	2.37:g.27565913G>T	ENSP00000352536:p.Pro117Thr					GTF3C2_uc002rju.1_Missense_Mutation_p.P128T|GTF3C2_uc002rjw.1_Missense_Mutation_p.P117T|GTF3C2_uc010eyz.1_Missense_Mutation_p.P117T	p.P117T	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			4	712	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.349C>A	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818383	0.32145	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748	T;T	0.72835	-0.69;-0.69	5.31	4.43	0.53597	.	0.152597	0.42548	D	0.000684	T	0.52549	0.1741	N	0.19112	0.55	0.25940	N	0.982884	P;B;P	0.35272	0.493;0.181;0.493	B;B;B	0.32289	0.143;0.068;0.143	T	0.51718	-0.8670	10	0.52906	T	0.07	-5.6892	9.6817	0.40074	0.0932:0.0:0.9068:0.0	.	117;117;117	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	T	117	ENSP00000352536:P117T;ENSP00000264720:P117T	ENSP00000264720:P117T	P	-	1	0	GTF3C2	27419417	0.978000	0.34361	0.994000	0.49952	0.969000	0.65631	1.928000	0.40104	1.468000	0.48064	0.563000	0.77884	CCT		PASS	0.537	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			36	200	36	200	---	---	---	---
SUPT7L	9913	broad.mit.edu	37	2	27884013	27884013	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:27884013T>C	ENST00000337768.5	-	3	826	c.257A>G	c.(256-258)cAg>cGg	p.Q86R	SUPT7L_ENST00000406540.1_Missense_Mutation_p.Q84R|SUPT7L_ENST00000404798.2_Intron|SLC4A1AP_ENST00000326019.6_5'Flank|SUPT7L_ENST00000464789.2_Missense_Mutation_p.Q84R|SUPT7L_ENST00000405491.1_Missense_Mutation_p.Q84R	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	86					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.Q86R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CTGCTGATTCTGGGCCTGAGC	0.522																																						uc002rlh.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(256-258)CAG>CGG		SPTF-associated factor 65 gamma							104.0	110.0	108.0					2																	27884013		2125	4227	6352	SO:0001583	missense	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27884013T>C	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.257A>G	2.37:g.27884013T>C	ENSP00000336750:p.Gln86Arg					SUPT7L_uc002rli.1_Missense_Mutation_p.Q86R|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Missense_Mutation_p.Q84R|SUPT7L_uc010ezh.1_Missense_Mutation_p.Q84R|SLC4A1AP_uc002rlk.3_5'Flank	p.Q86R	NM_014860	NP_055675	O94864	ST65G_HUMAN			3	600	-	Acute lymphoblastic leukemia(172;0.155)		86					B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	c.257A>G	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632393	0.67015	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	L	0.27053	0.805	0.80722	D	1	P;P	0.44816	0.844;0.759	B;B	0.43658	0.426;0.245	T	0.49093	-0.8975	9	0.56958	D	0.05	-21.7067	13.8775	0.63662	0.0:0.0:0.0:1.0	.	84;86	O94864-2;O94864	.;ST65G_HUMAN	R	86;84;84;84	.	ENSP00000336750:Q86R	Q	-	2	0	SUPT7L	27737517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.578000	0.67450	1.846000	0.53633	0.533000	0.62120	CAG		PASS	0.522	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		13	140	13	140	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32774500	32774500	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:32774500C>G	ENST00000421745.2	+	65	13230	c.13096C>G	c.(13096-13098)Cag>Gag	p.Q4366E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4366					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.Q4338E(1)|p.Q4366E(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTTCTCAGTCAGTCCTGCCT	0.433																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(13096-13098)CAG>GAG		baculoviral IAP repeat-containing 6							136.0	126.0	129.0					2																	32774500		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32774500C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13096C>G	2.37:g.32774500C>G	ENSP00000393596:p.Gln4366Glu						p.Q4366E	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			65	13230	+	Acute lymphoblastic leukemia(172;0.155)		4366					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13096C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942447	0.73672	.	.	ENSG00000115760	ENST00000421745	T	0.73897	-0.79	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.78547	0.4300	N	0.24115	0.695	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	T	0.78828	-0.2050	10	0.48119	T	0.1	.	19.7806	0.96414	0.0:1.0:0.0:0.0	.	4366	Q9NR09	BIRC6_HUMAN	E	4366	ENSP00000393596:Q4366E	ENSP00000393596:Q4366E	Q	+	1	0	BIRC6	32628004	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.818000	0.86416	2.669000	0.90835	0.650000	0.86243	CAG		PASS	0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		8	157	8	157	---	---	---	---
PRKD3	23683	broad.mit.edu	37	2	37543626	37543626	+	Silent	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:37543626T>C	ENST00000379066.1	-	2	804	c.42A>G	c.(40-42)gtA>gtG	p.V14V	PRKD3_ENST00000234179.2_Silent_p.V14V|PRKD3_ENST00000477132.1_5'Flank			O94806	KPCD3_HUMAN	protein kinase D3	14					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.V14V(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTGTGGGTAATACAGACTTCT	0.448																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(40-42)GTA>GTG		protein kinase D3							83.0	80.0	81.0					2																	37543626		2203	4300	6503	SO:0001819	synonymous_variant	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37543626T>C	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.42A>G	2.37:g.37543626T>C						PRKD3_uc002rqf.1_Silent_p.V14V	p.V14V	NM_005813	NP_005804	O94806	KPCD3_HUMAN			1	597	-		all_hematologic(82;0.21)	14					D6W587|Q53TR7|Q8NEL8	Silent	SNP	ENST00000379066.1	37	c.42A>G	CCDS1789.1																																																																																				PASS	0.448	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		30	185	30	185	---	---	---	---
COX7A2L	9167	broad.mit.edu	37	2	42588252	42588252	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:42588252G>T	ENST00000378669.1	-	2	879	c.50C>A	c.(49-51)gCt>gAt	p.A17D	COX7A2L_ENST00000234301.2_Missense_Mutation_p.A17D|COX7A2L_ENST00000482463.1_5'Flank|COX7A2L_ENST00000463055.1_Missense_Mutation_p.A17D			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	17					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.A17D(1)		lung(4)	4						GGCCTCCGAAGCCCATGCTCC	0.647																																						uc002rsk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)GCT>GAT		cytochrome c oxidase subunit VIIa polypeptide 2							61.0	50.0	54.0					2																	42588252		2203	4300	6503	SO:0001583	missense	9167				respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr2:42588252G>T	AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.50C>A	2.37:g.42588252G>T	ENSP00000367938:p.Ala17Asp					COX7A2L_uc002rsl.2_RNA	p.A17D	NM_004718	NP_004709	O14548	COX7R_HUMAN			1	105	-			17					Q9P118	Missense_Mutation	SNP	ENST00000378669.1	37	c.50C>A	CCDS1808.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180110	0.94846	.	.	ENSG00000115944	ENST00000468711;ENST00000378669;ENST00000234301;ENST00000463055	T;T	0.47869	0.83;0.83	5.33	5.33	0.75918	.	0.123056	0.56097	D	0.000026	T	0.54838	0.1883	L	0.56769	1.78	0.42059	D	0.991159	D	0.56287	0.975	P	0.48368	0.575	T	0.59648	-0.7415	10	0.56958	D	0.05	-10.9971	18.6615	0.91473	0.0:0.0:1.0:0.0	.	17	O14548	COX7R_HUMAN	D	13;17;17;17	ENSP00000367938:A17D;ENSP00000234301:A17D	ENSP00000234301:A17D	A	-	2	0	COX7A2L	42441756	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.961000	0.87903	2.502000	0.84385	0.555000	0.69702	GCT		PASS	0.647	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250466.3	NM_004718		4	41	4	41	---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44101029	44101029	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:44101029G>T	ENST00000272286.2	+	9	1405	c.1315G>T	c.(1315-1317)Ggg>Tgg	p.G439W		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	439	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.G439W(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TTTTGGCCATGGGAGCATCCA	0.527																																						uc002rtq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1315-1317)GGG>TGG		ATP-binding cassette sub-family G member 8							248.0	240.0	243.0					2																	44101029		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44101029G>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1315G>T	2.37:g.44101029G>T	ENSP00000272286:p.Gly439Trp					ABCG8_uc010yoa.1_Missense_Mutation_p.G438W	p.G439W	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			9	1405	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	439			Extracellular (Potential).|ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1315G>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798005	0.31777	.	.	ENSG00000143921	ENST00000272286	T	0.74315	-0.83	5.4	4.52	0.55395	ABC-2 type transporter (1);	0.378221	0.32802	N	0.005629	D	0.83519	0.5272	M	0.64997	1.995	0.23381	N	0.997791	D;D	0.76494	0.999;0.999	D;D	0.81914	0.988;0.995	T	0.76822	-0.2817	10	0.87932	D	0	.	13.8535	0.63513	0.073:0.0:0.927:0.0	.	438;439	Q9H221-2;Q9H221	.;ABCG8_HUMAN	W	439	ENSP00000272286:G439W	ENSP00000272286:G439W	G	+	1	0	ABCG8	43954533	0.999000	0.42202	0.012000	0.15200	0.009000	0.06853	7.140000	0.77322	1.286000	0.44565	0.561000	0.74099	GGG		PASS	0.527	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		281	438	281	438	---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48066854	48066854	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:48066854T>C	ENST00000403359.3	-	2	359	c.287A>G	c.(286-288)aAt>aGt	p.N96S	FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000378314.3_5'UTR|FBXO11_ENST00000316377.4_Missense_Mutation_p.N12S|FBXO11_ENST00000402508.1_Missense_Mutation_p.N12S	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	96					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.N12S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTATGGACTATTTTGTGCACC	0.363			"""Mis, F, D"""		DLBCL																																	uc010fbl.2				Rec	yes		2	2p16.3	80204		F-box protein 11			L					3	Whole gene deletion(2)|Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(2)|lung(1)	ovary(1)|lung(1)	2						c.(34-36)AAT>AGT		F-box only protein 11 isoform 1							127.0	119.0	122.0					2																	48066854		2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48066854T>C	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.287A>G	2.37:g.48066854T>C	ENSP00000384823:p.Asn96Ser					FBXO11_uc002rwe.2_Missense_Mutation_p.N12S|FBXO11_uc002rwf.2_Missense_Mutation_p.N12S|FBXO11_uc002rwg.1_Missense_Mutation_p.N12S	p.N12S	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	149	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	96					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.35A>G	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.248271	0.59103	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000424163	T;T;T;T	0.45276	1.04;0.9;1.04;0.97	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	N	0.14661	0.345	0.80722	D	1	B	0.16603	0.018	B	0.06405	0.002	T	0.04855	-1.0922	10	0.41790	T	0.15	-6.4067	15.9985	0.80270	0.0:0.0:0.0:1.0	.	96	Q86XK2	FBX11_HUMAN	S	12;96;12;12	ENSP00000385398:N12S;ENSP00000384823:N96S;ENSP00000323822:N12S;ENSP00000392272:N12S	ENSP00000323822:N12S	N	-	2	0	FBXO11	47920358	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.595000	0.82710	2.233000	0.73108	0.455000	0.32223	AAT		PASS	0.363	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		38	200	38	200	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48925804	48925804	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:48925804C>A	ENST00000294954.7	-	9	837	c.816G>T	c.(814-816)acG>acT	p.T272T	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Silent_p.T272T|LHCGR_ENST00000344775.3_Intron|LHCGR_ENST00000403273.1_Silent_p.T272T|LHCGR_ENST00000405626.1_Silent_p.T272T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	272					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.T272T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GGTAAGTCAACGTGGCCTCCA	0.438																																						uc002rwu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(814-816)ACG>ACT		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						108.0	108.0	108.0					2																	48925804		2203	4300	6503	SO:0001819	synonymous_variant	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48925804C>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.816G>T	2.37:g.48925804C>A						GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	p.T272T	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	886	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	272			Extracellular (Potential).		Q14751|Q15996|Q9UEW9	Silent	SNP	ENST00000294954.7	37	c.816G>T	CCDS1842.1																																																																																				PASS	0.438	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		61	113	61	113	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56420411	56420411	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:56420411C>G	ENST00000407595.2	+	2	1578	c.1076C>G	c.(1075-1077)cCg>cGg	p.P359R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	359	His-rich.							p.P359R(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGCACCAGCCCGGAGCACCTC	0.637																																						uc002rzn.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(1075-1077)CCG>CGG		coiled-coil domain containing 85A							28.0	34.0	32.0					2																	56420411		2130	4249	6379	SO:0001583	missense	114800							g.chr2:56420411C>G	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1076C>G	2.37:g.56420411C>G	ENSP00000384040:p.Pro359Arg						p.P359R	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1578	+			359			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.1076C>G	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946036	0.73672	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76356	-0.2989	9	0.72032	D	0.01	-49.7169	18.6833	0.91554	0.0:1.0:0.0:0.0	.	359	Q96PX6	CC85A_HUMAN	R	359	.	ENSP00000384040:P359R	P	+	2	0	CCDC85A	56273915	1.000000	0.71417	0.945000	0.38365	0.974000	0.67602	5.561000	0.67339	2.416000	0.81992	0.460000	0.39030	CCG		PASS	0.637	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			15	47	15	47	---	---	---	---
APLF	200558	broad.mit.edu	37	2	68794484	68794484	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:68794484A>T	ENST00000303795.4	+	9	1469	c.1298A>T	c.(1297-1299)cAg>cTg	p.Q433L	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	433					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.Q433L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AAGAATCCCCAGCACAAGATA	0.313																																						uc002sep.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1297-1299)CAG>CTG		aprataxin and PNKP like factor							62.0	63.0	63.0					2																	68794484		2203	4298	6501	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68794484A>T	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1298A>T	2.37:g.68794484A>T	ENSP00000307004:p.Gln433Leu					APLF_uc002seq.1_RNA|APLF_uc002ser.1_Missense_Mutation_p.Q164L	p.Q433L	NM_173545	NP_775816	Q8IW19	APLF_HUMAN			9	1471	+			433			PBZ-type 2.		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.1298A>T	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.269943	0.59540	.	.	ENSG00000169621	ENST00000303795	T	0.26660	1.72	4.99	4.99	0.66335	Zinc finger, C2H2, APLF-like (1);	0.067342	0.64402	D	0.000005	T	0.47284	0.1437	M	0.69358	2.11	0.41122	D	0.985826	D	0.76494	0.999	D	0.87578	0.998	T	0.48875	-0.8996	10	0.72032	D	0.01	.	11.2421	0.48974	1.0:0.0:0.0:0.0	.	433	Q8IW19	APLF_HUMAN	L	433	ENSP00000307004:Q433L	ENSP00000307004:Q433L	Q	+	2	0	APLF	68647988	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.043000	0.57354	2.211000	0.71520	0.477000	0.44152	CAG		PASS	0.313	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		21	81	21	81	---	---	---	---
CD207	50489	broad.mit.edu	37	2	71060794	71060794	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:71060794T>C	ENST00000410009.3	-	3	593	c.548A>G	c.(547-549)aAg>aGg	p.K183R		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	183					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)	p.K183R(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTTGAGCAACTTGCTCATATT	0.463																																						uc002shg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(547-549)AAG>AGG		CD207 antigen, langerin							71.0	64.0	66.0					2																	71060794		1883	4103	5986	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060794T>C	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.548A>G	2.37:g.71060794T>C	ENSP00000386378:p.Lys183Arg						p.K183R	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			3	595	-			183			Potential.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000410009.3	37	c.548A>G		.	.	.	.	.	.	.	.	.	.	T	2.612	-0.290656	0.05568	.	.	ENSG00000116031	ENST00000410009	T	0.30182	1.54	3.86	3.86	0.44501	.	0.451808	0.20806	N	0.085324	T	0.26629	0.0651	L	0.53249	1.67	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.09574	-1.0668	10	0.28530	T	0.3	.	9.3135	0.37919	0.0:0.0:0.0:1.0	.	183	Q9UJ71	CLC4K_HUMAN	R	183	ENSP00000386378:K183R	ENSP00000386378:K183R	K	-	2	0	CD207	70914302	0.022000	0.18835	0.006000	0.13384	0.023000	0.10783	1.763000	0.38461	1.967000	0.57214	0.533000	0.62120	AAG		PASS	0.463	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		17	47	17	47	---	---	---	---
CD207	50489	broad.mit.edu	37	2	71061107	71061107	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:71061107G>C	ENST00000410009.3	-	3	280	c.235C>G	c.(235-237)Cag>Gag	p.Q79E		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	79					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)	p.Q79E(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTCAGCAACTGGACATTGGTC	0.512																																						uc002shg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(235-237)CAG>GAG		CD207 antigen, langerin							46.0	41.0	43.0					2																	71061107		1969	4151	6120	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71061107G>C	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.235C>G	2.37:g.71061107G>C	ENSP00000386378:p.Gln79Glu						p.Q79E	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			3	282	-			79			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000410009.3	37	c.235C>G		.	.	.	.	.	.	.	.	.	.	G	12.36	1.914071	0.33815	.	.	ENSG00000116031	ENST00000410009	T	0.22945	1.93	4.77	1.63	0.23807	.	0.562209	0.16469	N	0.213043	T	0.14830	0.0358	L	0.27053	0.805	0.09310	N	1	B	0.21452	0.056	B	0.12156	0.007	T	0.17561	-1.0365	10	0.34782	T	0.22	.	6.3168	0.21194	0.1005:0.3618:0.5376:0.0	.	79	Q9UJ71	CLC4K_HUMAN	E	79	ENSP00000386378:Q79E	ENSP00000386378:Q79E	Q	-	1	0	CD207	70914615	0.054000	0.20591	0.002000	0.10522	0.673000	0.39480	0.751000	0.26348	0.648000	0.30732	0.655000	0.94253	CAG		PASS	0.512	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		9	47	9	47	---	---	---	---
VAX2	25806	broad.mit.edu	37	2	71148347	71148347	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:71148347C>A	ENST00000234392.2	+	2	399	c.367C>A	c.(367-369)Cgc>Agc	p.R123S		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	123					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R123S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GGAGTTCCAGCGCTGCCAGTA	0.637																																						uc002shh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CGC>AGC		ventral anterior homeobox 2							43.0	42.0	42.0					2																	71148347		2203	4300	6503	SO:0001583	missense	25806				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:71148347C>A	Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.367C>A	2.37:g.71148347C>A	ENSP00000234392:p.Arg123Ser						p.R123S	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN			2	399	+			123			Homeobox.		Q53Y33	Missense_Mutation	SNP	ENST00000234392.2	37	c.367C>A	CCDS1911.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230155	0.79688	.	.	ENSG00000116035	ENST00000234392	D	0.96041	-3.89	5.43	4.47	0.54385	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.059173	0.64402	D	0.000005	D	0.92221	0.7533	L	0.28458	0.855	0.58432	D	0.999995	P	0.34826	0.471	B	0.39771	0.309	D	0.91961	0.5579	10	0.59425	D	0.04	-14.5215	12.2143	0.54398	0.2453:0.7547:0.0:0.0	.	123	Q9UIW0	VAX2_HUMAN	S	123	ENSP00000234392:R123S	ENSP00000234392:R123S	R	+	1	0	VAX2	71001855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.230000	0.42999	2.547000	0.85894	0.655000	0.94253	CGC		PASS	0.637	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1			13	53	13	53	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71591167	71591167	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:71591167C>T	ENST00000409544.1	+	5	2132	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	ZNF638_ENST00000377802.2_Missense_Mutation_p.S501L|ZNF638_ENST00000264447.4_Missense_Mutation_p.S501L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.S501L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	501	Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S501L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGATCAAGCTCAAGTCACAGA	0.463																																						uc002shx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1501-1503)TCA>TTA		zinc finger protein 638							134.0	124.0	128.0					2																	71591167		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71591167C>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1502C>T	2.37:g.71591167C>T	ENSP00000386433:p.Ser501Leu					ZNF638_uc010fec.2_Missense_Mutation_p.S607L|ZNF638_uc010yqw.1_Missense_Mutation_p.S80L|ZNF638_uc002shw.2_Missense_Mutation_p.S501L|ZNF638_uc002shy.2_Missense_Mutation_p.S501L|ZNF638_uc002shz.2_Missense_Mutation_p.S501L|ZNF638_uc002sia.2_Missense_Mutation_p.S501L|ZNF638_uc002sib.1_Missense_Mutation_p.S501L|ZNF638_uc010fed.2_5'Flank	p.S501L	NM_014497	NP_055312	Q14966	ZN638_HUMAN			5	1821	+			501			Arg-rich.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1502C>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085088	0.55861	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.76839	-0.45;-1.05;0.11;-0.44;1.11;1.11	5.61	4.55	0.56014	.	0.096229	0.44688	D	0.000421	T	0.78566	0.4303	N	0.24115	0.695	0.37423	D	0.913732	D;D;D;D;P;D	0.67145	0.993;0.992;0.992;0.996;0.851;0.992	D;D;D;D;B;D	0.77557	0.977;0.974;0.974;0.99;0.253;0.974	T	0.81680	-0.0823	10	0.72032	D	0.01	-11.2489	10.2787	0.43526	0.0:0.8966:0.0:0.1034	.	501;607;501;501;501;501	A8K583;F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;.;ZN638_HUMAN;.	L	501;607;80;501;501;501;501	ENSP00000386669:S501L;ENSP00000438189:S607L;ENSP00000348066:S501L;ENSP00000367033:S501L;ENSP00000264447:S501L;ENSP00000386433:S501L	ENSP00000264447:S501L	S	+	2	0	ZNF638	71444675	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.739000	0.47409	2.658000	0.90341	0.585000	0.79938	TCA		PASS	0.463	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		18	175	18	175	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71839822	71839822	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:71839822G>T	ENST00000258104.3	+	39	4496	c.4219G>T	c.(4219-4221)Gat>Tat	p.D1407Y	DYSF_ENST00000429174.2_Missense_Mutation_p.D1407Y|DYSF_ENST00000410041.1_Missense_Mutation_p.D1425Y|DYSF_ENST00000413539.2_Missense_Mutation_p.D1438Y|DYSF_ENST00000409744.1_Missense_Mutation_p.D1394Y|DYSF_ENST00000394120.2_Missense_Mutation_p.D1408Y|DYSF_ENST00000409582.3_Missense_Mutation_p.D1424Y|DYSF_ENST00000409762.1_Missense_Mutation_p.D1424Y|DYSF_ENST00000409651.1_Missense_Mutation_p.D1439Y|DYSF_ENST00000410020.3_Missense_Mutation_p.D1425Y|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.D1408Y	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1407	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.D1425Y(1)|p.D1407Y(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAAGGTCATCGATAACCGCCA	0.637																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4219-4221)GAT>TAT		dysferlin isoform 8							56.0	53.0	54.0					2																	71839822		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71839822G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4219G>T	2.37:g.71839822G>T	ENSP00000258104:p.Asp1407Tyr					DYSF_uc010feg.2_Missense_Mutation_p.D1438Y|DYSF_uc010feh.2_Missense_Mutation_p.D1393Y|DYSF_uc002sig.3_Missense_Mutation_p.D1393Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D1407Y|DYSF_uc010fef.2_Missense_Mutation_p.D1424Y|DYSF_uc010fei.2_Missense_Mutation_p.D1424Y|DYSF_uc010fek.2_Missense_Mutation_p.D1425Y|DYSF_uc010fej.2_Missense_Mutation_p.D1394Y|DYSF_uc010fel.2_Missense_Mutation_p.D1394Y|DYSF_uc010feo.2_Missense_Mutation_p.D1439Y|DYSF_uc010fem.2_Missense_Mutation_p.D1408Y|DYSF_uc010fen.2_Missense_Mutation_p.D1425Y|DYSF_uc002sif.2_Missense_Mutation_p.D1408Y|DYSF_uc010yqy.1_Missense_Mutation_p.D288Y|DYSF_uc010yqz.1_Missense_Mutation_p.D147Y	p.D1407Y	NM_003494	NP_003485	O75923	DYSF_HUMAN			39	4595	+			1407			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4219G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656991	0.88154	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.52	5.52	0.82312	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	M	0.93763	3.455	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;0.999;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95906	0.8919	10	0.62326	D	0.03	-20.7509	16.9157	0.86150	0.0:0.0:1.0:0.0	.	150;1439;1425;1408;1394;1425;1394;1424;1393;1438;1424;1407;1393;1408;1407	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	Y	1438;1424;1424;1407;1407;1439;1408;1394;1408;1425;1425	ENSP00000407046:D1438Y;ENSP00000387137:D1424Y;ENSP00000386547:D1424Y;ENSP00000398305:D1407Y;ENSP00000258104:D1407Y;ENSP00000386683:D1439Y;ENSP00000377678:D1408Y;ENSP00000386285:D1394Y;ENSP00000386512:D1408Y;ENSP00000386881:D1425Y;ENSP00000386617:D1425Y	ENSP00000258104:D1407Y	D	+	1	0	DYSF	71693330	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	9.667000	0.98616	2.610000	0.88304	0.561000	0.74099	GAT		PASS	0.637	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		16	58	16	58	---	---	---	---
RETSAT	54884	broad.mit.edu	37	2	85573109	85573109	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:85573109C>A	ENST00000295802.4	-	6	1218	c.1106G>T	c.(1105-1107)cGc>cTc	p.R369L	RETSAT_ENST00000263854.6_Missense_Mutation_p.R369L|RETSAT_ENST00000457495.2_Missense_Mutation_p.R308L|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	369					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.R369L(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGGCAGGCAGCGGGCGTTCCC	0.587																																						uc002spd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1105-1107)CGC>CTC		all-trans-13,14-dihydroretinol saturase	Vitamin A(DB00162)						106.0	96.0	99.0					2																	85573109		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85573109C>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1106G>T	2.37:g.85573109C>A	ENSP00000295802:p.Arg369Leu					RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.R308L|RETSAT_uc010fgf.2_Missense_Mutation_p.R160L	p.R369L	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN			6	1297	-			369					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1106G>T	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.67|13.67	2.306729|2.306729	0.40795|0.40795	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000263854;ENST00000457495	.|T;T	.|0.26660	.|1.72;1.78	5.66|5.66	3.85|3.85	0.44370|0.44370	.|.	.|0.173355	.|0.52532	.|D	.|0.000077	T|T	0.24005|0.24005	0.0581|0.0581	M|M	0.65975|0.65975	2.015|2.015	0.36387|0.36387	D|D	0.862303|0.862303	.|B;B;B	.|0.33919	.|0.097;0.097;0.432	.|B;B;B	.|0.32211	.|0.059;0.059;0.142	T|T	0.18116|0.18116	-1.0347|-1.0347	5|10	.|0.27082	.|T	.|0.32	-19.3083|-19.3083	8.4067|8.4067	0.32619|0.32619	0.0:0.7551:0.0:0.2449|0.0:0.7551:0.0:0.2449	.|.	.|308;308;369	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	S|L	158|369;369;308	.|ENSP00000295802:R369L;ENSP00000405040:R308L	.|ENSP00000263854:R369L	A|R	-|-	1|2	0|0	RETSAT|RETSAT	85426620|85426620	0.703000|0.703000	0.27826|0.27826	0.992000|0.992000	0.48379|0.48379	0.076000|0.076000	0.17211|0.17211	0.765000|0.765000	0.26546|0.26546	1.394000|1.394000	0.46624|0.46624	0.467000|0.467000	0.42956|0.42956	GCT|CGC		PASS	0.587	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		42	181	42	181	---	---	---	---
IGKV1-8	28942	broad.mit.edu	37	2	89292131	89292131	+	RNA	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:89292131C>A	ENST00000495489.1	-	0	194									immunoglobulin kappa variable 1-8																		CTGCTAATACCCTGACTCGCC	0.507																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							155.0	149.0	151.0					2																	89292131		1947	4147	6094			0							g.chr2:89292131C>A	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.89292131C>A						uc002stl.2_Intron								82		-									RNA	SNP	ENST00000495489.1	37	c.7075G>T																																																																																					PASS	0.507	IGKV1-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323358.1	NG_000834		62	252	62	252	---	---	---	---
IGKV3-11	28914	broad.mit.edu	37	2	89326663	89326663	+	RNA	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:89326663G>T	ENST00000483158.1	-	0	392									immunoglobulin kappa variable 3-11																		TGGAATCACTGTGGGAGGCCA	0.483																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							103.0	94.0	97.0					2																	89326663		1873	4105	5978			0							g.chr2:89326663G>T	X01668		2p11.2	2012-02-08			ENSG00000241351	ENSG00000241351		"""Immunoglobulins / IGK locus"""	5815	other	immunoglobulin gene							Standard	NG_000834		Approved		uc021vkj.1		OTTHUMG00000151633		2.37:g.89326663G>T						uc002stl.2_Intron								68		-									RNA	SNP	ENST00000483158.1	37	c.6515C>A																																																																																					PASS	0.483	IGKV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323357.1	NG_000834		24	111	24	111	---	---	---	---
FER1L5	90342	broad.mit.edu	37	2	97365350	97365350	+	RNA	SNP	C	C	A	rs370695880		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:97365350C>A	ENST00000457909.1	+	0	4177							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F1585L(1)|p.F1585>?(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TCTATGACTTCGACCTATTTT	0.493																																						uc010fia.2																			2	Substitution - Missense(1)|Complex(1)		large_intestine(1)|lung(1)	ovary(1)	1						c.(4753-4755)TTC>TTA		fer-1-like 5 isoform 2							246.0	245.0	245.0					2																	97365350		1975	4149	6124			90342					integral to membrane		g.chr2:97365350C>A	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97365350C>A						FER1L5_uc002sws.3_Missense_Mutation_p.F303L|FER1L5_uc002swt.3_Missense_Mutation_p.F303L|FER1L5_uc010yus.1_Missense_Mutation_p.F302L	p.F1585L	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			42	4755	+			1585			C2 5.		Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37	c.4755C>A		.	.	.	.	.	.	.	.	.	.	C	12.27	1.888269	0.33348	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.29	2.9	0.33743	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.398323	0.18478	U	0.140004	T	0.67618	0.2912	M	0.78637	2.42	.	.	.	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.67548	0.952;0.947;0.92	T	0.75311	-0.3362	8	0.72032	D	0.01	-18.6232	8.0597	0.30625	0.0:0.2504:0.0:0.7496	.	302;1585;303	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	L	1585;1598;303	.	ENSP00000442027:F303L	F	+	3	2	FER1L5	96729077	0.154000	0.22792	1.000000	0.80357	0.905000	0.53344	-0.569000	0.05902	0.864000	0.35578	-0.312000	0.09012	TTC		PASS	0.493	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		110	379	110	379	---	---	---	---
TSGA10	80705	broad.mit.edu	37	2	99697854	99697854	+	Missense_Mutation	SNP	C	C	A	rs376022194		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:99697854C>A	ENST00000393483.3	-	11	1462	c.618G>T	c.(616-618)ttG>ttT	p.L206F	TSGA10_ENST00000539964.1_Missense_Mutation_p.L206F|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.L206F|TSGA10_ENST00000542655.1_Missense_Mutation_p.L206F|TSGA10_ENST00000410001.1_Missense_Mutation_p.L206F	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	206					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.L206F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGTTTTCATACAAAAGTCTGC	0.289																																						uc002szg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(616-618)TTG>TTT		testis specific, 10							40.0	41.0	41.0					2																	99697854		2198	4292	6490	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99697854C>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.618G>T	2.37:g.99697854C>A	ENSP00000377123:p.Leu206Phe					TSGA10_uc002szh.3_Missense_Mutation_p.L206F|TSGA10_uc002szi.3_Missense_Mutation_p.L206F|TSGA10_uc010fin.1_Missense_Mutation_p.L206F|TSGA10_uc010yvn.1_Missense_Mutation_p.L206F	p.L206F	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			9	1246	-			206					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.618G>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023677	0.54683	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.77750	0.45;0.45;0.45;0.45;-1.12;-1.12;-1.12	4.96	2.43	0.29744	.	0.184052	0.27117	N	0.020853	T	0.74642	0.3743	L	0.43923	1.385	0.31202	N	0.699675	D;D	0.62365	0.991;0.991	P;P	0.55749	0.783;0.743	T	0.70572	-0.4835	10	0.23302	T	0.38	-5.098	6.6059	0.22726	0.0:0.1925:0.0:0.8075	.	206;206	B7Z925;Q9BZW7	.;TSG10_HUMAN	F	206	ENSP00000377123:L206F;ENSP00000386956:L206F;ENSP00000347161:L206F;ENSP00000444419:L206F;ENSP00000386508:L206F;ENSP00000377122:L206F;ENSP00000445623:L206F	ENSP00000347161:L206F	L	-	3	2	TSGA10	99064286	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	0.346000	0.19997	0.455000	0.26910	-0.438000	0.05819	TTG		PASS	0.289	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		17	75	17	75	---	---	---	---
IL18R1	8809	broad.mit.edu	37	2	102988470	102988470	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:102988470C>T	ENST00000409599.1	+	5	716	c.360C>T	c.(358-360)ttC>ttT	p.F120F	IL18R1_ENST00000334376.3_Silent_p.F120F|IL18R1_ENST00000233957.1_Silent_p.F120F			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	120	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.F120F(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACAGCTGTTTCACTGAAAGAC	0.289																																						uc002tbw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(358-360)TTC>TTT		interleukin 18 receptor 1 precursor							36.0	38.0	37.0					2																	102988470		2202	4293	6495	SO:0001819	synonymous_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102988470C>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.360C>T	2.37:g.102988470C>T						IL18R1_uc010ywb.1_Silent_p.F120F|IL18R1_uc010ywc.1_Silent_p.F120F|IL18R1_uc010ywd.1_5'UTR|IL18R1_uc010fiy.2_Silent_p.F120F	p.F120F	NM_003855	NP_003846	Q13478	IL18R_HUMAN			4	510	+			120			Ig-like C2-type 1.|Extracellular (Potential).		B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	c.360C>T	CCDS2060.1																																																																																				PASS	0.289	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		26	71	26	71	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109381368	109381368	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:109381368A>G	ENST00000283195.6	+	20	4499	c.4373A>G	c.(4372-4374)aAa>aGa	p.K1458R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1458					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K1458R(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCTTCATTTAAATTTGGCCAG	0.368																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(4372-4374)AAA>AGA		RAN binding protein 2							69.0	68.0	69.0					2																	109381368		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109381368A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4373A>G	2.37:g.109381368A>G	ENSP00000283195:p.Lys1458Arg						p.K1458R	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	4499	+			1458					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.4373A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	9.261	1.043286	0.19748	.	.	ENSG00000153201	ENST00000283195	T	0.26810	1.71	5.41	3.0	0.34707	.	.	.	.	.	T	0.24851	0.0603	L	0.32530	0.975	0.18873	N	0.999983	D	0.59767	0.986	P	0.52481	0.7	T	0.09596	-1.0667	9	0.30854	T	0.27	-11.5743	5.0206	0.14360	0.6938:0.1226:0.0672:0.1163	.	1458	P49792	RBP2_HUMAN	R	1458	ENSP00000283195:K1458R	ENSP00000283195:K1458R	K	+	2	0	RANBP2	108747800	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	1.944000	0.40263	0.029000	0.15352	-1.256000	0.01477	AAA		PASS	0.368	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		34	93	34	93	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	124999829	124999830	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:124999829_124999830GG>TT	ENST00000431078.1	+	3	604_605	c.240_241GG>TT	c.(238-243)atGGac>atTTac	p.80_81MD>IY		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	80	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.M80_D81>IY(1)|p.M80I(1)|p.D81Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCTCCAGATGGACCTGGGAAA	0.525																																						uc002tno.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(10)	10						c.(238-240)ATG>ATT|c.(241-243)GAC>TAC		contactin associated protein-like 5 precursor																																				SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:124999829G>T|g.chr2:124999830G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	Exception_encountered	2.37:g.124999829_124999830delinsTT	ENSP00000399013:p.M80_D81delinsIY					CNTNAP5_uc010flu.2_Missense_Mutation_p.M80I|CNTNAP5_uc010flu.2_Missense_Mutation_p.D81Y	p.M80I|p.D81Y	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	3	604|605	+			80|81			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.240G>T|c.241G>T	CCDS46401.1																																																																																				PASS	0.525	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			3	14	3	14	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125405502	125405502	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:125405502C>A	ENST00000431078.1	+	13	2405	c.2041C>A	c.(2041-2043)Cac>Aac	p.H681N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	681	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.H681N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTGGCCTACCACTGCAGGAG	0.602																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(2041-2043)CAC>AAC		contactin associated protein-like 5 precursor							23.0	26.0	25.0					2																	125405502		2060	4195	6255	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125405502C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2041C>A	2.37:g.125405502C>A	ENSP00000399013:p.His681Asn					CNTNAP5_uc010flu.2_Missense_Mutation_p.H682N	p.H681N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	13	2405	+			681			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2041C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384033	0.42308	.	.	ENSG00000155052	ENST00000431078	T	0.12879	2.64	5.2	3.41	0.39046	.	0.236975	0.29040	N	0.013333	T	0.11110	0.0271	L	0.47716	1.5	0.37322	D	0.909606	B	0.32302	0.363	B	0.29077	0.098	T	0.15578	-1.0432	10	0.13853	T	0.58	.	10.7594	0.46256	0.0:0.8461:0.0:0.1539	.	681	Q8WYK1	CNTP5_HUMAN	N	681	ENSP00000399013:H681N	ENSP00000399013:H681N	H	+	1	0	CNTNAP5	125121972	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.566000	0.36396	0.699000	0.31761	0.561000	0.74099	CAC		PASS	0.602	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			4	18	4	18	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128335741	128335741	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:128335741G>T	ENST00000409816.2	+	8	915	c.883G>T	c.(883-885)Gcc>Tcc	p.A295S	MYO7B_ENST00000389524.4_Missense_Mutation_p.A295S|MYO7B_ENST00000428314.1_Missense_Mutation_p.A295S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	295	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A295S(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTCAACGACGCCAAGGACTA	0.632																																						uc002top.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(883-885)GCC>TCC		myosin VIIB							57.0	64.0	62.0					2																	128335741		2119	4226	6345	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128335741G>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.883G>T	2.37:g.128335741G>T	ENSP00000386461:p.Ala295Ser						p.A295S	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	9	936	+	Colorectal(110;0.1)		295			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.883G>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	6.173	0.400121	0.11696	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.88201	-2.35;-2.35;-2.35	4.25	1.35	0.21983	Myosin head, motor domain (2);	0.312207	0.30428	N	0.009656	T	0.80048	0.4552	L	0.39326	1.205	0.23266	N	0.998011	B	0.23990	0.095	B	0.26614	0.071	T	0.65598	-0.6129	10	0.35671	T	0.21	.	2.894	0.05685	0.1585:0.1412:0.5547:0.1456	.	295	Q6PIF6	MYO7B_HUMAN	S	295	ENSP00000374175:A295S;ENSP00000415090:A295S;ENSP00000386461:A295S	ENSP00000374175:A295S	A	+	1	0	MYO7B	128052211	0.006000	0.16342	0.281000	0.24762	0.434000	0.31775	0.307000	0.19296	0.160000	0.19432	-0.244000	0.11960	GCC		PASS	0.632	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		12	59	12	59	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141253223	141253223	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:141253223C>A	ENST00000389484.3	-	56	9916	c.8945G>T	c.(8944-8946)tGc>tTc	p.C2982F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2982	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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.C2982F(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)		TGTATTGATGCATTGCTGGCT	0.458										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.(8944-8946)TGC>TTC		low density lipoprotein-related protein 1B							182.0	163.0	169.0					2																	141253223		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141253223C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8945G>T	2.37:g.141253223C>A	ENSP00000374135:p.Cys2982Phe	TSP Lung(27;0.18)					p.C2982F	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)	56	9917	-		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)	2982			Extracellular (Potential).|EGF-like 7.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8945G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137408	0.77775	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96427	-4.01	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.98738	4.315	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98922	1.0784	10	0.87932	D	0	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	2982	Q9NZR2	LRP1B_HUMAN	F	2982;2920	ENSP00000374135:C2982F	ENSP00000374135:C2982F	C	-	2	0	LRP1B	140969693	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.708000	0.84633	2.718000	0.92993	0.585000	0.79938	TGC		PASS	0.458	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		34	117	34	117	---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149806919	149806919	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:149806919G>C	ENST00000435030.1	+	10	1279	c.911G>C	c.(910-912)tGt>tCt	p.C304S	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.C72S|KIF5C_ENST00000414838.2_Missense_Mutation_p.C209S			O60282	KIF5C_HUMAN	kinesin family member 5C	304	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.C304S(1)|p.C207S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GTCATTTGCTGTTCTCCTTCT	0.502																																						uc010zbu.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(910-912)TGT>TCT		kinesin family member 5C							112.0	111.0	111.0					2																	149806919		1979	4171	6150	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149806919G>C	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.911G>C	2.37:g.149806919G>C	ENSP00000393379:p.Cys304Ser					KIF5C_uc002tws.1_RNA	p.C304S	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	10	1279	+			304			Kinesin-motor.|Microtubule-binding.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.911G>C		.	.	.	.	.	.	.	.	.	.	G	32	5.111781	0.94339	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000450621;ENST00000397413	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.64	5.64	0.86602	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.88049	0.2786	9	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	304	O60282	KIF5C_HUMAN	S	304;209;207;21;72	ENSP00000393379:C304S;ENSP00000410115:C209S;ENSP00000393270:C21S;ENSP00000380560:C72S	ENSP00000334176:C207S	C	+	2	0	KIF5C	149515165	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	TGT		PASS	0.502	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		29	35	29	35	---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149840133	149840133	+	Splice_Site	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:149840133G>T	ENST00000435030.1	+	15	1937		c.e15-1		KIF5C_ENST00000397413.1_Splice_Site|KIF5C_ENST00000464066.1_Splice_Site|KIF5C_ENST00000414838.2_Splice_Site			O60282	KIF5C_HUMAN	kinesin family member 5C						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TTGTTTTTCAGACTACATTGA	0.388																																						uc010zbu.1																			2	Unknown(2)		lung(2)	skin(1)	1						c.e15-1		kinesin family member 5C							79.0	76.0	77.0					2																	149840133		1897	4120	6017	SO:0001630	splice_region_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149840133G>T	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1570-1G>T	2.37:g.149840133G>T						KIF5C_uc002tws.1_Splice_Site|KIF5C_uc002twt.2_Splice_Site_p.T76_splice	p.T524_splice	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	15	1938	+								O95079|Q2YDC5	Splice_Site	SNP	ENST00000435030.1	37	c.1570_splice		.	.	.	.	.	.	.	.	.	.	G	16.90	3.251150	0.59212	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5125	0.95148	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF5C	149548379	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	8.911000	0.92721	2.840000	0.97914	0.655000	0.94253	.		PASS	0.388	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	Intron	16	36	16	36	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152325193	152325193	+	Silent	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:152325193A>G	ENST00000243326.5	+	32	7347	c.6864A>G	c.(6862-6864)acA>acG	p.T2288T	RIF1_ENST00000430328.2_Silent_p.T2262T|RIF1_ENST00000428287.2_Silent_p.T2262T|RIF1_ENST00000453091.2_Silent_p.T2262T|RIF1_ENST00000444746.2_Silent_p.T2288T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T2288T(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CATGCCCAACAGAAAGTGTTT	0.378																																						uc002txm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(6862-6864)ACA>ACG		RAP1 interacting factor 1							175.0	168.0	170.0					2																	152325193		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152325193A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6864A>G	2.37:g.152325193A>G						RIF1_uc002txl.2_Silent_p.T2262T|RIF1_uc002txn.2_Silent_p.T2262T|RIF1_uc002txo.2_Silent_p.T2262T|RIF1_uc002txp.2_RNA	p.T2288T	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	33	6994	+			2288			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.6864A>G	CCDS2194.1																																																																																				PASS	0.378	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			56	172	56	172	---	---	---	---
ACVR1C	130399	broad.mit.edu	37	2	158406731	158406731	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:158406731G>T	ENST00000243349.8	-	4	1078	c.718C>A	c.(718-720)Cag>Aag	p.Q240K	ACVR1C_ENST00000335450.7_Missense_Mutation_p.Q160K|ACVR1C_ENST00000409680.3_Missense_Mutation_p.Q190K|ACVR1C_ENST00000348328.5_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.Q240K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATGACCGTCTGGTAAATTTCT	0.428																																						uc002tzk.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(2)	7						c.(718-720)CAG>AAG		activin A receptor, type IC isoform 1							156.0	154.0	155.0					2																	158406731		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158406731G>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.718C>A	2.37:g.158406731G>T	ENSP00000243349:p.Gln240Lys					ACVR1C_uc002tzl.3_Missense_Mutation_p.Q160K|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.Q190K	p.Q240K	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			4	961	-			240			Protein kinase.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000243349.8	37	c.718C>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881529	0.72294	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000335450	T;T;T	0.64991	-0.13;-0.13;-0.13	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125150	0.36167	N	0.002747	T	0.70360	0.3215	L	0.35644	1.08	0.80722	D	1	D;D	0.62365	0.983;0.991	P;P	0.58130	0.823;0.833	T	0.70865	-0.4756	10	0.87932	D	0	.	20.4549	0.99139	0.0:0.0:1.0:0.0	.	160;240	Q8NER5-3;Q8NER5	.;ACV1C_HUMAN	K	240;190;160	ENSP00000243349:Q240K;ENSP00000387168:Q190K;ENSP00000335178:Q160K	ENSP00000243349:Q240K	Q	-	1	0	ACVR1C	158114977	1.000000	0.71417	0.996000	0.52242	0.002000	0.02628	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CAG		PASS	0.428	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		44	186	44	186	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166770088	166770088	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:166770088A>G	ENST00000243344.7	-	16	2344	c.2207T>C	c.(2206-2208)cTa>cCa	p.L736P		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	736					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.L736P(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTTTACCTCTAGAATATTCAT	0.303																																						uc002udk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(2206-2208)CTA>CCA		tetratricopeptide repeat domain 21B							78.0	80.0	79.0					2																	166770088		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166770088A>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2207T>C	2.37:g.166770088A>G	ENSP00000243344:p.Leu736Pro						p.L736P	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			16	2340	-			736			TPR 9.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.2207T>C	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.293976	0.60086	.	.	ENSG00000123607	ENST00000243344	T	0.59364	0.27	5.23	4.06	0.47325	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.108927	0.64402	D	0.000005	T	0.52289	0.1725	L	0.46157	1.445	0.80722	D	1	B	0.33238	0.403	B	0.37888	0.26	T	0.48570	-0.9024	10	0.40728	T	0.16	-7.7595	11.1876	0.48666	0.1431:0.0:0.0:0.8569	.	736	Q7Z4L5	TT21B_HUMAN	P	736	ENSP00000243344:L736P	ENSP00000243344:L736P	L	-	2	0	TTC21B	166478334	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	4.805000	0.62561	0.806000	0.34183	-0.649000	0.03915	CTA		PASS	0.303	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		16	82	16	82	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167085253	167085253	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:167085253A>T	ENST00000409435.1	-	21	4153	c.4154T>A	c.(4153-4155)cTg>cAg	p.L1385Q	SCN9A_ENST00000303354.6_Missense_Mutation_p.L1386Q|SCN9A_ENST00000409672.1_Missense_Mutation_p.L1374Q|SCN9A_ENST00000375387.4_Missense_Mutation_p.L1386Q|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1385			Missing (in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel). {ECO:0000269|PubMed:20635406}.		behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.L1374Q(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTCACTTTCAGGTTTTTCCA	0.398																																						uc010fpl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(4120-4122)CTG>CAG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						205.0	201.0	202.0					2																	167085253		1887	4133	6020	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167085253A>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4154T>A	2.37:g.167085253A>T	ENSP00000386330:p.Leu1385Gln					uc002udp.2_Intron	p.L1374Q	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			22	4462	-			1385		Missing (in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel).	III.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4121T>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.730739	0.89390	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	5.3	5.3	0.74995	.	0.152175	0.29480	N	0.012033	D	0.97331	0.9127	L	0.31664	0.95	0.44337	D	0.997223	P	0.44241	0.829	P	0.53062	0.717	D	0.98507	1.0617	10	0.87932	D	0	.	15.2359	0.73430	1.0:0.0:0.0:0.0	.	1374	E7EUN6	.	Q	1374;1386;1386;1385	ENSP00000386306:L1374Q;ENSP00000364536:L1386Q;ENSP00000304748:L1386Q;ENSP00000386330:L1385Q	ENSP00000304748:L1386Q	L	-	2	0	SCN9A	166793499	0.993000	0.37304	0.997000	0.53966	0.993000	0.82548	5.269000	0.65542	2.013000	0.59113	0.455000	0.32223	CTG		PASS	0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		34	244	34	244	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170150710	170150710	+	Silent	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:170150710A>G	ENST00000263816.3	-	6	885	c.600T>C	c.(598-600)taT>taC	p.Y200Y	LRP2_ENST00000443831.1_Silent_p.Y200Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	200	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.Y200Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGTCACAGACATAAGCACGAG	0.438																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(598-600)TAT>TAC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						175.0	145.0	155.0					2																	170150710		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170150710A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.600T>C	2.37:g.170150710A>G						LRP2_uc010zdf.1_Silent_p.Y200Y	p.Y200Y	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	6	813	-			200			LDL-receptor class A 5.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.600T>C	CCDS2232.1																																																																																				PASS	0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		23	176	23	176	---	---	---	---
CHRNA1	1134	broad.mit.edu	37	2	175624292	175624292	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:175624292A>T	ENST00000261007.5	-	2	179	c.113T>A	c.(112-114)gTg>gAg	p.V38E	CHRNA1_ENST00000409542.1_Missense_Mutation_p.V38E|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V38E|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V38E|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V38E	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	38					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.V38E(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TGGCCGCACCACGCTGCTGTA	0.587																																						uc002ujd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(112-114)GTG>GAG		nicotinic cholinergic receptor alpha 1 isoform a							124.0	122.0	123.0					2																	175624292		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175624292A>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.113T>A	2.37:g.175624292A>T	ENSP00000261007:p.Val38Glu					uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.V38E|CHRNA1_uc002ujf.3_Missense_Mutation_p.V38E	p.V38E	NM_001039523	NP_001034612	P02708	ACHA_HUMAN			2	191	-			38			Extracellular.		B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.113T>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	A	32	5.142234	0.94560	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.91	5.91	0.95273	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.81626	0.4862	N	0.21373	0.66	0.80722	D	1	D;P;D	0.89917	0.957;0.888;1.0	P;P;D	0.85130	0.78;0.788;0.997	D	0.84379	0.0548	10	0.87932	D	0	.	16.3426	0.83092	1.0:0.0:0.0:0.0	.	38;38;38	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	E	38	ENSP00000261008:V38E;ENSP00000261007:V38E;ENSP00000387026:V38E;ENSP00000386611:V38E;ENSP00000386684:V38E	ENSP00000261007:V38E	V	-	2	0	CHRNA1	175332538	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.056000	0.71111	2.263000	0.75096	0.379000	0.24179	GTG		PASS	0.587	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			37	273	37	273	---	---	---	---
ATF2	1386	broad.mit.edu	37	2	175939423	175939423	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:175939423T>A	ENST00000264110.2	-	14	1730	c.1432A>T	c.(1432-1434)Acc>Tcc	p.T478S	ATF2_ENST00000426833.3_Missense_Mutation_p.T460S|ATF2_ENST00000409499.1_Missense_Mutation_p.T117S|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409437.1_Missense_Mutation_p.T362S|ATF2_ENST00000345739.5_Missense_Mutation_p.T420S|ATF2_ENST00000392544.1_Missense_Mutation_p.T478S|ATF2_ENST00000409635.1_Missense_Mutation_p.T420S|ATF2_ENST00000392543.2_Missense_Mutation_p.T99S|ATF2_ENST00000538946.1_3'UTR	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	478					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)	p.T478S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	GCCATCTGGGTGAGGACTGAA	0.507																																					Pancreas(17;87 705 4534 15538 30988)	uc002ujl.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|pancreas(1)	3						c.(1432-1434)ACC>TCC		activating transcription factor 2							78.0	69.0	72.0					2																	175939423		2203	4300	6503	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175939423T>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1432A>T	2.37:g.175939423T>A	ENSP00000264110:p.Thr478Ser					ATF2_uc010fqv.2_Missense_Mutation_p.T429S|ATF2_uc002ujv.2_Missense_Mutation_p.T225S|ATF2_uc002ujm.2_Missense_Mutation_p.T420S|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Missense_Mutation_p.T117S|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.T478S|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.T460S|ATF2_uc002ujs.2_Missense_Mutation_p.T420S|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_3'UTR|ATF2_uc002ujx.1_RNA|uc002ujk.2_5'Flank	p.T478S	NM_001880	NP_001871	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		14	1694	-			478					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.1432A>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	T	9.456	1.091913	0.20471	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000409499;ENST00000426833;ENST00000392543	T;T;T;T;T;T	0.77750	-1.12;0.47;-0.5;0.47;-1.12;-1.1	5.83	3.34	0.38264	.	0.239161	0.41712	D	0.000837	T	0.49813	0.1579	N	0.02539	-0.55	0.80722	D	1	B;B;B;B	0.25441	0.001;0.126;0.001;0.001	B;B;B;B	0.29440	0.001;0.102;0.001;0.001	T	0.21586	-1.0241	10	0.16420	T	0.52	-35.69	7.1312	0.25502	0.2581:0.0:0.1348:0.6071	.	460;117;420;478	A4D7U4;Q96JT8;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	S	478;420;455;362;420;478;117;460;99	ENSP00000264110:T478S;ENSP00000340576:T420S;ENSP00000386326:T362S;ENSP00000387093:T420S;ENSP00000376327:T478S;ENSP00000407911:T460S	ENSP00000264110:T478S	T	-	1	0	ATF2	175647669	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.506000	0.35747	0.415000	0.25817	0.528000	0.53228	ACC		PASS	0.507	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		12	39	12	39	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178494266	178494266	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:178494266G>C	ENST00000286063.6	-	20	2988	c.2671C>G	c.(2671-2673)Ctg>Gtg	p.L891V	PDE11A_ENST00000450799.2_Missense_Mutation_p.L82V|PDE11A_ENST00000409504.1_Missense_Mutation_p.L533V|PDE11A_ENST00000449286.2_Missense_Mutation_p.L533V|PDE11A_ENST00000358450.4_Missense_Mutation_p.L641V|PDE11A_ENST00000389683.3_Missense_Mutation_p.L447V	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	891	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.L641V(1)|p.L891V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ATCGGCTTCAGTTTCACGTTG	0.463									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(2671-2673)CTG>GTG		phosphodiesterase 11A isoform 4							201.0	181.0	188.0					2																	178494266		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178494266G>C	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2671C>G	2.37:g.178494266G>C	ENSP00000286063:p.Leu891Val					PDE11A_uc010zfd.1_Missense_Mutation_p.L82V|PDE11A_uc002ulp.2_Missense_Mutation_p.L447V|PDE11A_uc002ulr.2_Missense_Mutation_p.L641V|PDE11A_uc002uls.1_Missense_Mutation_p.L533V|PDE11A_uc002ult.1_Missense_Mutation_p.L641V|PDE11A_uc002ulu.1_Missense_Mutation_p.L533V	p.L891V	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		20	2989	-			891			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.2671C>G	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.000151|4.000151	0.74818|0.74818	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000450799;ENST00000409504;ENST00000389683;ENST00000449286|ENST00000436700	T;T;T;T;T;T|.	0.80393|.	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37|.	5.72|5.72	4.66|4.66	0.58398|0.58398	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68906|0.68906	0.3052|0.3052	L|L	0.53249|0.53249	1.67|1.67	0.48901|0.48901	D|D	0.999722|0.999722	D;D|.	0.71674|.	0.997;0.998|.	D;D|.	0.69824|.	0.92;0.966|.	T|T	0.66023|0.66023	-0.6026|-0.6026	10|5	0.72032|.	D|.	0.01|.	.|.	15.6087|15.6087	0.76696|0.76696	0.0768:0.0:0.9232:0.0|0.0768:0.0:0.9232:0.0	.|.	641;891|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	V|S	891;641;82;533;447;533|93	ENSP00000286063:L891V;ENSP00000351232:L641V;ENSP00000387964:L82V;ENSP00000386539:L533V;ENSP00000374333:L447V;ENSP00000390599:L533V|.	ENSP00000286063:L891V|.	L|T	-|-	1|2	2|0	PDE11A|PDE11A	178202512|178202512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	5.307000|5.307000	0.65762|0.65762	2.714000|2.714000	0.92807|0.92807	0.591000|0.591000	0.81541|0.81541	CTG|ACT		PASS	0.463	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			77	148	77	148	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179399048	179399048	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:179399048G>C	ENST00000591111.1	-	308	97595	c.97371C>G	c.(97369-97371)atC>atG	p.I32457M	TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I25225M|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I31530M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I25158M|TTN_ENST00000460472.2_Missense_Mutation_p.I25033M|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I34098M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587568.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32457					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.I25158M(1)|p.I25225M(1)|p.I31528M(1)|p.I25033M(1)|p.I31530M(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)			GGTCTTTCTTGATCAGGGTGT	0.468																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94588-94590)ATC>ATG		titin isoform N2-A							127.0	122.0	123.0					2																	179399048		1926	4147	6073	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399048G>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.97371C>G	2.37:g.179399048G>C	ENSP00000465570:p.Ile32457Met					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I25225M|TTN_uc010zfi.1_Missense_Mutation_p.I25158M|TTN_uc010zfj.1_Missense_Mutation_p.I25033M	p.I31530M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94814	-			32457					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.94590C>G		.	.	.	.	.	.	.	.	.	.	G	7.819	0.717309	0.15372	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.78	2.78	0.32641	Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.20941	0.0504	N	0.08118	0	0.34144	D	0.666703	B;B;B;B	0.22276	0.067;0.067;0.067;0.067	B;B;B;B	0.26202	0.067;0.067;0.067;0.067	T	0.22312	-1.0220	9	0.87932	D	0	.	3.0669	0.06218	0.0836:0.2233:0.4045:0.2886	.	25033;25158;25225;32457	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	31530;25033;25225;25158;25030	ENSP00000343764:I31530M;ENSP00000434586:I25033M;ENSP00000340554:I25225M;ENSP00000352154:I25158M	ENSP00000340554:I25225M	I	-	3	3	TTN	179107294	0.935000	0.31712	1.000000	0.80357	0.989000	0.77384	0.042000	0.13949	1.429000	0.47314	0.555000	0.69702	ATC		PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	152	19	152	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179449428	179449428	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:179449428G>T	ENST00000591111.1	-	260	60241	c.60017C>A	c.(60016-60018)aCa>aAa	p.T20006K	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T12774K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T19079K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T12707K|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T12582K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T21647K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20006	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.T12582K(1)|p.T12707K(1)|p.T12774K(1)|p.T19077K(1)|p.T19079K(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)			CTTTGGAGATGTGAGAGGCTC	0.433																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(57235-57237)ACA>AAA		titin isoform N2-A							183.0	179.0	180.0					2																	179449428		1898	4115	6013	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449428G>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.60017C>A	2.37:g.179449428G>T	ENSP00000465570:p.Thr20006Lys					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T12774K|TTN_uc010zfi.1_Missense_Mutation_p.T12707K|TTN_uc010zfj.1_Missense_Mutation_p.T12582K	p.T19079K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		259	57460	-			20006					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.57236C>A		.	.	.	.	.	.	.	.	.	.	G	10.39	1.336633	0.24253	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64085	-0.08;0.16;0.16;0.12	6.17	2.99	0.34606	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40694	0.1127	N	0.04018	-0.295	0.09310	N	1	B;B;B;B	0.20671	0.013;0.013;0.013;0.047	B;B;B;B	0.16722	0.005;0.005;0.01;0.016	T	0.39292	-0.9621	9	0.87932	D	0	.	11.5494	0.50713	0.0717:0.0:0.6435:0.2848	.	12582;12707;12774;20006	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	19079;12582;12774;12707;12580	ENSP00000343764:T19079K;ENSP00000434586:T12582K;ENSP00000340554:T12774K;ENSP00000352154:T12707K	ENSP00000340554:T12774K	T	-	2	0	TTN	179157674	0.028000	0.19301	0.699000	0.30290	0.796000	0.44982	1.844000	0.39269	0.840000	0.34995	-0.345000	0.07892	ACA		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	373	46	373	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179730587	179730587	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:179730587C>G	ENST00000420890.2	-	17	2748	c.2631G>C	c.(2629-2631)gaG>gaC	p.E877D	CCDC141_ENST00000295723.5_Missense_Mutation_p.E302D	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	877								p.E877D(1)|p.E302D(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCATGCTGTCCTCCTCAAGGA	0.512																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(904-906)GAG>GAC		coiled-coil domain containing 141							256.0	236.0	243.0					2																	179730587		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179730587C>G	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2631G>C	2.37:g.179730587C>G	ENSP00000395995:p.Glu877Asp						p.E302D	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		7	963	-			302			Potential.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.906G>C		.	.	.	.	.	.	.	.	.	.	C	7.907	0.735717	0.15574	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.45668	0.89;1.28;1.28;1.48	6.07	0.927	0.19437	.	0.973271	0.08433	N	0.946655	T	0.17746	0.0426	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25572	-1.0128	10	0.18710	T	0.47	-0.0377	0.9767	0.01427	0.2809:0.3652:0.1037:0.2503	.	302	Q6ZP82	CC141_HUMAN	D	877;321;302;877	ENSP00000395995:E877D;ENSP00000344627:E321D;ENSP00000295723:E302D;ENSP00000390190:E877D	ENSP00000295723:E302D	E	-	3	2	CCDC141	179438832	0.095000	0.21747	0.014000	0.15608	0.051000	0.14879	0.889000	0.28282	0.463000	0.27118	0.650000	0.86243	GAG		PASS	0.512	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		130	319	130	319	---	---	---	---
CERKL	375298	broad.mit.edu	37	2	182423307	182423307	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:182423307C>G	ENST00000339098.5	-	6	883	c.884G>C	c.(883-885)gGc>gCc	p.G295A	CERKL_ENST00000410087.3_Missense_Mutation_p.G269A|CERKL_ENST00000409440.3_Missense_Mutation_p.G251A|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_5'UTR			Q49MI3	CERKL_HUMAN	ceramide kinase-like	295	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.G269A(1)|p.G295A(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGGTATTAAGCCAAGTGGAAG	0.478																																						uc002unx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(883-885)GGC>GCC		ceramide kinase-like isoform b							100.0	104.0	103.0					2																	182423307		2012	4169	6181	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182423307C>G	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.884G>C	2.37:g.182423307C>G	ENSP00000341159:p.Gly295Ala					CERKL_uc002uny.2_Missense_Mutation_p.G269A|CERKL_uc010zfm.1_Missense_Mutation_p.G251A|CERKL_uc002unz.2_Missense_Mutation_p.G17A|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_Missense_Mutation_p.G17A|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.G64A|CERKL_uc002uoe.2_Missense_Mutation_p.G269A	p.G295A	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		6	985	-			295			DAGKc.		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.884G>C	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769229	0.90020	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000339098	T;T;T	0.28895	1.59;1.59;1.59	5.93	5.93	0.95920	Diacylglycerol kinase, catalytic domain (2);	0.116998	0.56097	D	0.000027	T	0.54695	0.1874	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.995;1.0	T	0.39583	-0.9607	10	0.37606	T	0.19	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	251;269;295	B4DEY1;Q49MI3-2;Q49MI3	.;.;CERKL_HUMAN	A	269;251;295	ENSP00000386725:G269A;ENSP00000387080:G251A;ENSP00000341159:G295A	ENSP00000341159:G295A	G	-	2	0	CERKL	182131552	1.000000	0.71417	0.105000	0.21289	0.991000	0.79684	7.163000	0.77524	2.814000	0.96858	0.591000	0.81541	GGC		PASS	0.478	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			8	119	8	119	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185802007	185802007	+	Silent	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:185802007A>G	ENST00000302277.6	+	4	2478	c.1884A>G	c.(1882-1884)gaA>gaG	p.E628E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	628							metal ion binding (GO:0046872)	p.E628E(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTTACACTGAAAATGCTGGGA	0.343																																						uc002uph.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1882-1884)GAA>GAG		zinc finger protein 804A							95.0	105.0	102.0					2																	185802007		2203	4298	6501	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185802007A>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1884A>G	2.37:g.185802007A>G							p.E628E	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2478	+			628					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.1884A>G	CCDS2291.1																																																																																				PASS	0.343	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		63	200	63	200	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189901512	189901512	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:189901512G>T	ENST00000374866.3	-	52	4217	c.3943C>A	c.(3943-3945)Cct>Act	p.P1315T		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1315	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P1315T(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTTGGTTAGGATCAATCCAG	0.338																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3943-3945)CCT>ACT		alpha 2 type V collagen preproprotein							75.0	69.0	71.0					2																	189901512		2203	4299	6502	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189901512G>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3943C>A	2.37:g.189901512G>T	ENSP00000364000:p.Pro1315Thr					COL5A2_uc010frx.2_Missense_Mutation_p.P891T	p.P1315T	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		52	4218	-			1315			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3943C>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608368	0.66558	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.80824	-1.42	5.18	5.18	0.71444	Fibrillar collagen, C-terminal (3);	0.000000	0.47093	D	0.000255	D	0.92903	0.7742	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92595	0.6086	10	0.19147	T	0.46	.	18.6767	0.91531	0.0:0.0:1.0:0.0	.	955;1315	Q5PR22;P05997	.;CO5A2_HUMAN	T	1315;955	ENSP00000364000:P1315T	ENSP00000364000:P1315T	P	-	1	0	COL5A2	189609757	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.407000	0.81776	0.591000	0.81541	CCT		PASS	0.338	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		9	50	9	50	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196728947	196728947	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:196728947T>C	ENST00000312428.6	-	41	7532	c.7432A>G	c.(7432-7434)Att>Gtt	p.I2478V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2478	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.I2478V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCATCTCCAATGGGACTCATG	0.438																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(7432-7434)ATT>GTT		dynein, axonemal, heavy chain 7							133.0	131.0	132.0					2																	196728947		1991	4158	6149	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196728947T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7432A>G	2.37:g.196728947T>C	ENSP00000311273:p.Ile2478Val						p.I2478V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			41	7533	-			2478			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.7432A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725592	0.68959	.	.	ENSG00000118997	ENST00000312428	T	0.33654	1.4	5.2	5.2	0.72013	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	L	0.43646	1.37	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.31943	-0.9925	10	0.10636	T	0.68	.	14.8859	0.70570	0.0:0.0:0.0:1.0	.	2478	Q8WXX0	DYH7_HUMAN	V	2478	ENSP00000311273:I2478V	ENSP00000311273:I2478V	I	-	1	0	DNAH7	196437192	1.000000	0.71417	0.980000	0.43619	0.855000	0.48748	5.025000	0.64097	2.178000	0.69098	0.528000	0.53228	ATT		PASS	0.438	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		31	107	31	107	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196756469	196756469	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:196756469C>A	ENST00000312428.6	-	31	5056	c.4956G>T	c.(4954-4956)atG>atT	p.M1652I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1652	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.M1652I(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACAGTTGGCCCATGGTGACAG	0.368																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(4954-4956)ATG>ATT		dynein, axonemal, heavy chain 7							102.0	97.0	98.0					2																	196756469		1861	4102	5963	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196756469C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4956G>T	2.37:g.196756469C>A	ENSP00000311273:p.Met1652Ile						p.M1652I	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			31	5057	-			1652			AAA 2 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.4956G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135657	0.77662	.	.	ENSG00000118997	ENST00000312428	D	0.87809	-2.3	5.32	5.32	0.75619	.	0.042480	0.85682	D	0.000000	D	0.90331	0.6975	M	0.84683	2.71	0.80722	D	1	B	0.32653	0.379	B	0.38020	0.263	D	0.90164	0.4230	10	0.56958	D	0.05	.	18.7834	0.91944	0.0:1.0:0.0:0.0	.	1652	Q8WXX0	DYH7_HUMAN	I	1652	ENSP00000311273:M1652I	ENSP00000311273:M1652I	M	-	3	0	DNAH7	196464714	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.889000	0.69766	2.770000	0.95276	0.650000	0.86243	ATG		PASS	0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		30	80	30	80	---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197593928	197593928	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:197593928C>T	ENST00000389175.4	+	23	2703	c.2568C>T	c.(2566-2568)gcC>gcT	p.A856A	CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Silent_p.A503A|CCDC150_ENST00000409270.1_Silent_p.A343A	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	856								p.A856A(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGAAGAAAGCCCTTGATGAAG	0.378																																						uc002utp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2566-2568)GCC>GCT		coiled-coil domain containing 150							39.0	38.0	38.0					2																	197593928		1835	4082	5917	SO:0001819	synonymous_variant	284992							g.chr2:197593928C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.2568C>T	2.37:g.197593928C>T						CCDC150_uc010zgs.1_Silent_p.A503A|CCDC150_uc010zgt.1_Silent_p.A273A|CCDC150_uc002utr.1_Silent_p.A171A	p.A856A	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			23	2703	+			856			Potential.		Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	c.2568C>T	CCDS46478.1																																																																																				PASS	0.378	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		5	33	5	33	---	---	---	---
RFTN2	130132	broad.mit.edu	37	2	198498558	198498558	+	Missense_Mutation	SNP	G	G	T	rs371286793		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:198498558G>T	ENST00000295049.4	-	4	1138	c.602C>A	c.(601-603)aCg>aAg	p.T201K		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	201					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.T201K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CCCACTTAACGTCCCTTCATT	0.413																																						uc002uuo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)ACG>AAG		raftlin family member 2							246.0	221.0	229.0					2																	198498558		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198498558G>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.602C>A	2.37:g.198498558G>T	ENSP00000295049:p.Thr201Lys						p.T201K	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			4	1004	-			201					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.602C>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	G	7.316	0.615969	0.14129	.	.	ENSG00000162944	ENST00000295049	T	0.29655	1.56	5.27	2.36	0.29203	.	1.098420	0.06899	N	0.805717	T	0.26195	0.0639	L	0.47716	1.5	0.09310	N	1	B	0.30634	0.288	B	0.29524	0.103	T	0.27739	-1.0065	10	0.29301	T	0.29	-0.4958	5.9595	0.19291	0.0733:0.1348:0.6521:0.1398	.	201	Q52LD8	RFTN2_HUMAN	K	201	ENSP00000295049:T201K	ENSP00000295049:T201K	T	-	2	0	RFTN2	198206803	0.035000	0.19736	0.001000	0.08648	0.750000	0.42670	2.170000	0.42443	0.260000	0.21731	0.655000	0.94253	ACG		PASS	0.413	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		60	295	60	295	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207460779	207460779	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:207460779G>T	ENST00000264377.3	+	24	2580	c.2252G>T	c.(2251-2253)tGt>tTt	p.C751F	ADAM23_ENST00000374415.3_Missense_Mutation_p.C751F|ADAM23_ENST00000374416.1_Missense_Mutation_p.C751F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	751	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C751F(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCACAGGTGTGTAGTAATGAA	0.448																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(2251-2253)TGT>TTT		ADAM metallopeptidase domain 23 preproprotein							79.0	71.0	74.0					2																	207460779		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207460779G>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2252G>T	2.37:g.207460779G>T	ENSP00000264377:p.Cys751Phe					ADAM23_uc010ziv.1_Intron	p.C751F	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	24	2475	+			751			EGF-like.|Extracellular (Potential).		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.2252G>T	CCDS2369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.401035|4.401035	0.83120|0.83120	.|.	.|.	ENSG00000114948|ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000374415|ENST00000444281	T;T;T|.	0.06068|.	3.35;3.37;3.36|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	D|D	0.87026|0.87026	0.6075|0.6075	M|M	0.93106|0.93106	3.38|3.38	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.89208|0.89208	0.3562|0.3562	10|5	0.87932|.	D|.	0|.	.|.	20.0833|20.0833	0.97789|0.97789	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	751|.	O75077|.	ADA23_HUMAN|.	F|L	751|26	ENSP00000264377:C751F;ENSP00000363537:C751F;ENSP00000363536:C751F|.	ENSP00000264377:C751F|.	C|V	+|+	2|1	0|0	ADAM23|ADAM23	207169024|207169024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	TGT|GTA		PASS	0.448	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		12	60	12	60	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211502425	211502425	+	Splice_Site	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:211502425G>A	ENST00000233072.5	+	22	2883		c.e22-1		CPS1_ENST00000497121.1_Splice_Site|CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						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.?(3)		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)	TTAAATCCTAGTGAGTCCATG	0.408																																						uc002vee.3																			3	Unknown(3)		lung(2)|large_intestine(1)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.e22-1		carbamoyl-phosphate synthetase 1 isoform b							59.0	67.0	65.0					2																	211502425		2202	4300	6502	SO:0001630	splice_region_variant	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.chr2:211502425G>A	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.2688-1G>A	2.37:g.211502425G>A						CPS1_uc010fur.2_Splice_Site_p.S902_splice|CPS1_uc010fus.2_Splice_Site_p.S445_splice	p.S896_splice	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)	22	2820	+								B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37	c.2688_splice	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146102	0.37923	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6902	0.95998	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211210670	1.000000	0.71417	0.983000	0.44433	0.142000	0.21351	8.201000	0.89735	2.708000	0.92522	0.650000	0.86243	.		PASS	0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Intron	25	120	25	120	---	---	---	---
BARD1	580	broad.mit.edu	37	2	215645361	215645361	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:215645361C>T	ENST00000260947.4	-	4	1371	c.1237G>A	c.(1237-1239)Gca>Aca	p.A413T	BARD1_ENST00000449967.2_Missense_Mutation_p.A269T|BARD1_ENST00000471787.1_5'Flank	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	413					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A413T(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTTCATTGCTGAGGGACTA	0.403									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2																			2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(1237-1239)GCA>ACA		BRCA1 associated RING domain 1							129.0	118.0	121.0					2																	215645361		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645361C>T		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1237G>A	2.37:g.215645361C>T	ENSP00000260947:p.Ala413Thr					BARD1_uc010zjm.1_Missense_Mutation_p.A269T	p.A413T	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	1372	-		Renal(323;0.0243)	413					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1237G>A	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332934	0.41297	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.66638	-0.22;-0.22	5.24	2.98	0.34508	.	0.522971	0.20482	N	0.091471	T	0.48241	0.1489	L	0.38838	1.175	0.09310	N	1	B;B	0.21071	0.051;0.006	B;B	0.17433	0.018;0.003	T	0.27773	-1.0064	10	0.11182	T	0.66	-1.0668	5.6126	0.17414	0.0:0.6441:0.1517:0.2041	.	269;413	E7EUI3;Q99728	.;BARD1_HUMAN	T	413;269	ENSP00000260947:A413T;ENSP00000406752:A269T	ENSP00000260947:A413T	A	-	1	0	BARD1	215353606	0.001000	0.12720	0.001000	0.08648	0.673000	0.39480	0.537000	0.23144	0.341000	0.23771	0.462000	0.41574	GCA		PASS	0.403	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		24	146	24	146	---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219602936	219602936	+	Silent	SNP	A	A	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:219602936A>C	ENST00000392102.1	+	3	877	c.537A>C	c.(535-537)acA>acC	p.T179T	TTLL4_ENST00000442769.1_Silent_p.T179T|TTLL4_ENST00000457313.1_Silent_p.T14T|TTLL4_ENST00000258398.4_Silent_p.T179T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	179					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.T179T(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CCTCATCCACAGAACCATACC	0.567																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(535-537)ACA>ACC		tubulin tyrosine ligase-like family, member 4							89.0	93.0	92.0					2																	219602936		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602936A>C		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.537A>C	2.37:g.219602936A>C						TTLL4_uc010zkl.1_Silent_p.T14T|TTLL4_uc010fvx.2_Silent_p.T179T	p.T179T	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	907	+		Renal(207;0.0915)	179					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.537A>C	CCDS2422.1																																																																																				PASS	0.567	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		72	147	72	147	---	---	---	---
DNAJB2	3300	broad.mit.edu	37	2	220144589	220144589	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:220144589C>G	ENST00000336576.5	+	2	322	c.34C>G	c.(34-36)Cga>Gga	p.R12G	DNAJB2_ENST00000392086.4_Missense_Mutation_p.R12G	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	12	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)	p.R12G(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACGTGCCGCGAAGTGCGTC	0.587																																						uc002vkx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CGA>GGA		DnaJ (Hsp40) homolog, subfamily B, member 2							95.0	85.0	88.0					2																	220144589		2203	4300	6503	SO:0001583	missense	3300				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	g.chr2:220144589C>G		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.34C>G	2.37:g.220144589C>G	ENSP00000338019:p.Arg12Gly					DNAJB2_uc010zla.1_Missense_Mutation_p.R12G|DNAJB2_uc002vkw.1_Missense_Mutation_p.R12G|DNAJB2_uc002vky.2_5'Flank|DNAJB2_uc010zlb.1_5'Flank	p.R12G	NM_006736	NP_006727	P25686	DNJB2_HUMAN		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	271	+		Renal(207;0.0474)	12			J.		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	ENST00000336576.5	37	c.34C>G	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562997	0.86335	.	.	ENSG00000135924	ENST00000336576;ENST00000425450;ENST00000392086;ENST00000421532;ENST00000392087;ENST00000442681;ENST00000439026	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	4.74	4.74	0.60224	Heat shock protein DnaJ, N-terminal (5);	0.478958	0.18635	N	0.135479	T	0.52565	0.1742	M	0.71206	2.165	0.39399	D	0.966552	P;P;B	0.51057	0.941;0.66;0.047	P;P;B	0.56088	0.791;0.545;0.059	T	0.58358	-0.7650	10	0.87932	D	0	.	12.6247	0.56623	0.1655:0.8345:0.0:0.0	.	12;12;12	B4DF16;P25686;P25686-2	.;DNJB2_HUMAN;.	G	12	ENSP00000338019:R12G;ENSP00000414796:R12G;ENSP00000375936:R12G;ENSP00000395173:R12G;ENSP00000375937:R12G;ENSP00000392790:R12G;ENSP00000387951:R12G	ENSP00000338019:R12G	R	+	1	2	DNAJB2	219852833	0.821000	0.29204	0.998000	0.56505	0.991000	0.79684	2.659000	0.46741	2.452000	0.82932	0.609000	0.83330	CGA		PASS	0.587	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			6	65	6	65	---	---	---	---
MLPH	79083	broad.mit.edu	37	2	238461036	238461036	+	Nonsense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:238461036A>T	ENST00000264605.3	+	15	2026	c.1732A>T	c.(1732-1734)Aga>Tga	p.R578*	MLPH_ENST00000445024.2_3'UTR|MLPH_ENST00000410032.1_Nonsense_Mutation_p.R435*|MLPH_ENST00000338530.4_Nonsense_Mutation_p.R550*|MLPH_ENST00000409373.1_Nonsense_Mutation_p.R458*	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	578					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.R578*(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GCTGACACAGAGAAACCCCAA	0.458																																						uc002vwt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1732-1734)AGA>TGA		melanophilin isoform 1							76.0	70.0	72.0					2																	238461036		2203	4300	6503	SO:0001587	stop_gained	79083						metal ion binding	g.chr2:238461036A>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1732A>T	2.37:g.238461036A>T	ENSP00000264605:p.Arg578*					MLPH_uc002vws.2_Nonsense_Mutation_p.R435*|MLPH_uc002vwu.2_Nonsense_Mutation_p.R550*|MLPH_uc002vwv.2_Nonsense_Mutation_p.R458*|MLPH_uc002vww.2_Nonsense_Mutation_p.R474*|MLPH_uc002vwx.2_Nonsense_Mutation_p.R434*|MLPH_uc010fyu.2_Nonsense_Mutation_p.R330*	p.R578*	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	15	1959	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	578					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Nonsense_Mutation	SNP	ENST00000264605.3	37	c.1732A>T	CCDS2518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.0|27.0	4.789021|4.789021	0.90367|0.90367	.|.	.|.	ENSG00000115648|ENSG00000115648	ENST00000415753|ENST00000410032;ENST00000264605;ENST00000338530;ENST00000409373;ENST00000437893;ENST00000434770	.|.	.|.	.|.	4.91|4.91	3.72|3.72	0.42706|0.42706	.|.	.|0.000000	.|0.56097	.|D	.|0.000022	T|.	0.29556|.	0.0737|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13308|.	-1.0514|.	4|.	.|0.02654	.|T	.|1	-20.4665|-20.4665	8.5999|8.5999	0.33738|0.33738	0.8055:0.1945:0.0:0.0|0.8055:0.1945:0.0:0.0	.|.	.|.	.|.	.|.	V|X	213|435;578;550;458;338;127	.|.	.|ENSP00000264605:R578X	E|R	+|+	2|1	0|2	MLPH|MLPH	238125775|238125775	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.985000|0.985000	0.73830|0.73830	1.490000|1.490000	0.35573|0.35573	0.680000|0.680000	0.31366|0.31366	0.482000|0.482000	0.46254|0.46254	GAG|AGA		PASS	0.458	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		16	79	16	79	---	---	---	---
RTP5	285093	broad.mit.edu	37	2	242815303	242815303	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr2:242815303C>T	ENST00000343216.3	+	2	1624	c.1596C>T	c.(1594-1596)gcC>gcT	p.A532A		NM_173821.2	NP_776182.2												p.A532A(1)									CTGGCCGTGCCTGCCGTAGGC	0.647																																						uc010fzu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1594-1596)GCC>GCT		hypothetical protein LOC285093							69.0	80.0	77.0					2																	242815303		2065	4170	6235	SO:0001819	synonymous_variant	285093					integral to membrane		g.chr2:242815303C>T																												ENST00000343216.3:c.1596C>T	2.37:g.242815303C>T							p.A532A	NM_173821	NP_776182	Q14D33	CB085_HUMAN			2	1619	+			532						Silent	SNP	ENST00000343216.3	37	c.1596C>T	CCDS42843.1																																																																																				PASS	0.647	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			63	116	63	116	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9788954	9788954	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:9788954A>T	ENST00000457855.1	+	13	3577	c.3566A>T	c.(3565-3567)cAg>cTg	p.Q1189L	OGG1_ENST00000449570.2_5'Flank|OGG1_ENST00000302036.7_5'Flank|BRPF1_ENST00000383829.2_Missense_Mutation_p.Q1195L|OGG1_ENST00000302003.7_5'Flank|BRPF1_ENST00000424362.1_Missense_Mutation_p.Q1188L|OGG1_ENST00000302008.8_5'Flank|BRPF1_ENST00000433861.2_Missense_Mutation_p.Q1094L|OGG1_ENST00000349503.5_5'Flank|OGG1_ENST00000339511.5_5'Flank|OGG1_ENST00000344629.7_5'Flank|BRPF1_ENST00000302054.3_Missense_Mutation_p.Q1189L|OGG1_ENST00000383826.5_5'Flank			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1189					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q1195L(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AAGTCAGTACAGATCGCCTAC	0.577																																						uc003bse.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3565-3567)CAG>CTG		bromodomain and PHD finger-containing protein 1							143.0	120.0	127.0					3																	9788954		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9788954A>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3566A>T	3.37:g.9788954A>T	ENSP00000410210:p.Gln1189Leu					BRPF1_uc003bsf.2_Missense_Mutation_p.Q1195L|BRPF1_uc003bsg.2_Missense_Mutation_p.Q1188L|BRPF1_uc011ati.1_Missense_Mutation_p.Q1094L|OGG1_uc003bsh.2_5'Flank|OGG1_uc003bsi.2_5'Flank|OGG1_uc003bsj.2_5'Flank|OGG1_uc003bsk.2_5'Flank|OGG1_uc003bsl.2_5'Flank|OGG1_uc003bsm.2_5'Flank|OGG1_uc003bsn.2_5'Flank|OGG1_uc003bso.2_5'Flank	p.Q1189L	NM_004634	NP_004625	P55201	BRPF1_HUMAN			14	3965	+	Medulloblastoma(99;0.227)		1189					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.3566A>T	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.853928	0.71719	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	L	0.52573	1.65	0.80722	D	1	D;D;P;P	0.61080	0.989;0.962;0.697;0.937	D;P;B;B	0.63597	0.916;0.476;0.137;0.284	T	0.01030	-1.1475	10	0.72032	D	0.01	.	16.004	0.80344	1.0:0.0:0.0:0.0	.	1094;1188;1195;1189	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	L	1094;1188;1195;1189;1189	ENSP00000402485:Q1094L;ENSP00000398863:Q1188L;ENSP00000373340:Q1195L;ENSP00000306297:Q1189L;ENSP00000410210:Q1189L	ENSP00000306297:Q1189L	Q	+	2	0	BRPF1	9763954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.295000	0.78780	2.263000	0.75096	0.379000	0.24179	CAG		PASS	0.577	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		69	133	69	133	---	---	---	---
ALS2CL	259173	broad.mit.edu	37	3	46728560	46728560	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:46728560C>A	ENST00000318962.4	-	5	530	c.447G>T	c.(445-447)tcG>tcT	p.S149S	ALS2CL_ENST00000415953.1_Silent_p.S149S	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	149					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S149S(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCTGGCCCAGCGATGCGCCCA	0.682																																						uc003cqa.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|central_nervous_system(2)|skin(1)	5						c.(445-447)TCG>TCT		ALS2 C-terminal like isoform 1							40.0	39.0	39.0					3																	46728560		2200	4299	6499	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46728560C>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.447G>T	3.37:g.46728560C>A						ALS2CL_uc003cqb.1_Silent_p.S149S|ALS2CL_uc003cqc.1_RNA	p.S149S	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	5	637	-			149					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.447G>T	CCDS2743.1																																																																																				PASS	0.682	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		5	7	5	7	---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47882519	47882519	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:47882519T>G	ENST00000445061.1	+	7	926	c.519T>G	c.(517-519)atT>atG	p.I173M	DHX30_ENST00000457607.1_Missense_Mutation_p.I201M|DHX30_ENST00000348968.4_Missense_Mutation_p.I145M|DHX30_ENST00000446256.2_Missense_Mutation_p.I134M	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	173						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.I173M(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGAGAGTATTCGACCAGGGG	0.602																																						uc003cru.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(517-519)ATT>ATG		DEAH (Asp-Glu-Ala-His) box polypeptide 30							35.0	35.0	35.0					3																	47882519		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882519T>G	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.519T>G	3.37:g.47882519T>G	ENSP00000405620:p.Ile173Met					DHX30_uc003crs.2_Missense_Mutation_p.I134M|DHX30_uc003crt.2_Missense_Mutation_p.I134M|DHX30_uc010hjr.1_Missense_Mutation_p.I201M	p.I173M	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	7	945	+			173					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.519T>G	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305482	0.60305	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03717	3.87;3.85;3.86;3.83	4.89	1.66	0.24008	.	0.430484	0.24046	N	0.042052	T	0.06917	0.0176	L	0.44542	1.39	0.35002	D	0.756039	P;D;P	0.54397	0.943;0.966;0.902	P;P;B	0.58721	0.703;0.844;0.202	T	0.39099	-0.9630	10	0.62326	D	0.03	.	2.9283	0.05792	0.473:0.3592:0.0:0.1678	.	173;134;201	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	M	134;173;145;201	ENSP00000392601:I134M;ENSP00000405620:I173M;ENSP00000343442:I145M;ENSP00000394682:I201M	ENSP00000343442:I145M	I	+	3	3	DHX30	47857523	1.000000	0.71417	0.995000	0.50966	0.812000	0.45895	0.453000	0.21811	-0.012000	0.14223	0.533000	0.62120	ATT		PASS	0.602	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		22	41	22	41	---	---	---	---
RRP9	9136	broad.mit.edu	37	3	51970535	51970535	+	Missense_Mutation	SNP	G	G	A	rs146452464	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:51970535G>A	ENST00000232888.6	-	7	627	c.554C>T	c.(553-555)cCt>cTt	p.P185L		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	185					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.P185L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CTTGGCTCGAGGAATCACATG	0.637													G|||	5	0.000998403	0.0038	0.0	5008	,	,		15691	0.0		0.0	False		,,,				2504	0.0					uc003dbw.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(553-555)CCT>CTT		RNA, U3 small nucleolar interacting protein 2		G	LEU/PRO	8,4398	12.9+/-30.5	0,8,2195	59.0	57.0	58.0		554	4.3	1.0	3	dbSNP_134	58	0,8600		0,0,4300	yes	missense	RRP9	NM_004704.3	98	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	benign	185/476	51970535	8,12998	2203	4300	6503	SO:0001583	missense	9136				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	g.chr3:51970535G>A	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.554C>T	3.37:g.51970535G>A	ENSP00000232888:p.Pro185Leu						p.P185L	NM_004704	NP_004695	O43818	U3IP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	7	593	-			185					B2R996|Q8IZ30	Missense_Mutation	SNP	ENST00000232888.6	37	c.554C>T	CCDS2837.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	16.68	3.189665	0.57909	0.001816	0.0	ENSG00000114767	ENST00000232888	T	0.80653	-1.4	5.3	4.34	0.51931	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.106630	0.64402	D	0.000003	T	0.73776	0.3630	L	0.55990	1.75	0.58432	D	0.999999	P	0.36683	0.565	B	0.27380	0.079	T	0.77435	-0.2589	10	0.51188	T	0.08	-14.871	14.9238	0.70859	0.0:0.0:0.8107:0.1892	.	185	O43818	U3IP2_HUMAN	L	185	ENSP00000232888:P185L	ENSP00000232888:P185L	P	-	2	0	RRP9	51945575	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	4.612000	0.61169	2.494000	0.84150	0.655000	0.94253	CCT		PASS	0.637	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704		26	52	26	52	---	---	---	---
CADM2	253559	broad.mit.edu	37	3	86010798	86010798	+	Splice_Site	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:86010798G>T	ENST00000407528.2	+	7	1005		c.e7+1		CADM2_ENST00000383699.3_Splice_Site|CADM2_ENST00000405615.2_Splice_Site	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2						adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.?(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATTGTGCATGGTGAGTAAATT	0.328																																						uc003dqj.2																			2	Unknown(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.e7+1		immunoglobulin superfamily, member 4D							110.0	96.0	101.0					3																	86010798		2203	4300	6503	SO:0001630	splice_region_variant	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86010798G>T	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.943+1G>T	3.37:g.86010798G>T						CADM2_uc003dqk.2_Splice_Site_p.D324_splice|CADM2_uc003dql.2_Splice_Site_p.D317_splice	p.D315_splice	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	7	1569	+		Lung NSC(201;0.0148)						G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Splice_Site	SNP	ENST00000407528.2	37	c.943_splice	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485169	0.84854	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3022	0.94148	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CADM2	86093488	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.444000	0.97578	2.549000	0.85964	0.650000	0.86243	.		PASS	0.328	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	Intron	55	86	55	86	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868594	97868594	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:97868594G>A	ENST00000437310.1	+	1	425	c.365G>A	c.(364-366)cGc>cAc	p.R122H	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCATATGATCGCTATGTAGCC	0.398																																						uc003dsg.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(364-366)CGC>CAC		olfactory receptor, family 5, subfamily H,							100.0	115.0	110.0					3																	97868594		2203	4297	6500	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868594G>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.365G>A	3.37:g.97868594G>A	ENSP00000401706:p.Arg122His						p.R122H	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	365	+			122			Cytoplasmic (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.365G>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241687	0.22711	.	.	ENSG00000236032	ENST00000437310	T	0.77489	-1.1	2.49	1.43	0.22495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000257	T	0.75273	0.3827	M	0.87381	2.88	0.22292	N	0.999226	P	0.41345	0.746	B	0.36504	0.226	T	0.71122	-0.4684	10	0.66056	D	0.02	.	7.9538	0.30029	0.0:0.0:0.7572:0.2428	.	122	A6NHG9	O5H14_HUMAN	H	122	ENSP00000401706:R122H	ENSP00000401706:R122H	R	+	2	0	OR5H14	99351284	0.999000	0.42202	0.989000	0.46669	0.031000	0.12232	5.533000	0.67160	1.380000	0.46344	0.195000	0.17529	CGC		PASS	0.398	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			8	76	8	76	---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98600525	98600525	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:98600525C>A	ENST00000326840.6	-	2	654	c.292G>T	c.(292-294)Gtt>Ttt	p.V98F	DCBLD2_ENST00000326857.9_Missense_Mutation_p.V98F|DCBLD2_ENST00000469648.1_Intron	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	98	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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.V98F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CATTCACAAACAGTGCTGTTG	0.418																																						uc003dtd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(292-294)GTT>TTT		discoidin, CUB and LCCL domain containing 2							173.0	166.0	168.0					3																	98600525		1905	4115	6020	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.chr3:98600525C>A		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.292G>T	3.37:g.98600525C>A	ENSP00000321573:p.Val98Phe					DCBLD2_uc003dte.2_Missense_Mutation_p.V98F|DCBLD2_uc003dtf.1_RNA	p.V98F	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN			2	655	-			98			Extracellular (Potential).|CUB.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.292G>T	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032455	0.93575	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	T;T	0.18016	2.24;2.24	6.06	6.06	0.98353	CUB (5);	0.051584	0.85682	D	0.000000	T	0.36054	0.0953	L	0.45051	1.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00349	-1.1798	10	0.39692	T	0.17	-24.5003	18.1336	0.89610	0.0:1.0:0.0:0.0	.	98;98	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	F	98;52;98	ENSP00000321573:V98F;ENSP00000321646:V98F	ENSP00000321573:V98F	V	-	1	0	DCBLD2	100083215	1.000000	0.71417	0.836000	0.33094	0.997000	0.91878	5.584000	0.67490	2.880000	0.98712	0.650000	0.86243	GTT		PASS	0.418	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		81	286	81	286	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107447613	107447613	+	Splice_Site	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:107447613A>G	ENST00000325805.8	+	6	694	c.407A>G	c.(406-408)tAt>tGt	p.Y136C	BBX_ENST00000402543.1_Splice_Site_p.Y136C|BBX_ENST00000415149.2_Splice_Site_p.Y136C|BBX_ENST00000406780.1_Splice_Site_p.Y136C|BBX_ENST00000416476.2_Splice_Site_p.Y136C			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	136					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y136C(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TATTTATAGTATAAGGATGCA	0.378																																						uc010hpr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(406-408)TAT>TGT		HMG-BOX transcription factor BBX isoform 1							92.0	101.0	98.0					3																	107447613		2203	4300	6503	SO:0001630	splice_region_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107447613A>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.406-1A>G	3.37:g.107447613A>G						BBX_uc003dwk.3_Missense_Mutation_p.Y136C|BBX_uc003dwl.3_Missense_Mutation_p.Y136C|BBX_uc010hps.1_Missense_Mutation_p.Y157C|BBX_uc003dwm.3_Missense_Mutation_p.Y136C	p.Y136C	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		6	734	+			136			HMG box.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.407A>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.237941	0.79800	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000449335;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449213;ENST00000429270	D;D;D;D;D;D;D;D;D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64	6.03	6.03	0.97812	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98005	0.9343	L	0.46157	1.445	0.80722	D	1	D;D;P;P	0.76494	0.999;0.999;0.621;0.936	D;D;P;P	0.71656	0.959;0.974;0.727;0.694	D	0.99316	1.0905	10	0.72032	D	0.01	-10.1452	16.5582	0.84512	1.0:0.0:0.0:0.0	.	136;136;136;136	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	C	136	ENSP00000408358:Y136C;ENSP00000385317:Y136C;ENSP00000319974:Y136C;ENSP00000413320:Y136C;ENSP00000403860:Y136C;ENSP00000408297:Y136C;ENSP00000413274:Y136C;ENSP00000385518:Y136C;ENSP00000385530:Y136C;ENSP00000403806:Y136C;ENSP00000407662:Y136C;ENSP00000414673:Y136C	ENSP00000319974:Y136C	Y	+	2	0	BBX	108930303	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.711000	0.91396	2.308000	0.77769	0.533000	0.62120	TAT		PASS	0.378	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235	Missense_Mutation	72	202	72	202	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108133227	108133227	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:108133227C>A	ENST00000273353.3	-	31	4113	c.4057G>T	c.(4057-4059)Gac>Tac	p.D1353Y		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1353						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D1353Y(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CGTAGAAGGTCACAGTCACGC	0.507																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(4057-4059)GAC>TAC		myosin, heavy polypeptide 15							103.0	98.0	100.0					3																	108133227		2055	4206	6261	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108133227C>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4057G>T	3.37:g.108133227C>A	ENSP00000273353:p.Asp1353Tyr						p.D1353Y	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			31	4114	-			1353			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.4057G>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300311	0.81136	.	.	ENSG00000144821	ENST00000273353	D	0.82803	-1.65	5.62	4.75	0.60458	Myosin tail (1);	.	.	.	.	D	0.92051	0.7481	M	0.89840	3.065	0.58432	D	0.999992	D	0.56521	0.976	D	0.67382	0.951	D	0.93658	0.6979	9	0.87932	D	0	.	14.8767	0.70498	0.0:0.9308:0.0:0.0692	.	1353	Q9Y2K3	MYH15_HUMAN	Y	1353	ENSP00000273353:D1353Y	ENSP00000273353:D1353Y	D	-	1	0	MYH15	109615917	1.000000	0.71417	0.071000	0.20095	0.222000	0.24845	4.889000	0.63171	1.506000	0.48736	-0.140000	0.14226	GAC		PASS	0.507	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		25	79	25	79	---	---	---	---
BTLA	151888	broad.mit.edu	37	3	112198582	112198582	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:112198582C>A	ENST00000334529.5	-	2	325	c.123G>T	c.(121-123)aaG>aaT	p.K41N	BTLA_ENST00000383680.4_Missense_Mutation_p.K41N	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	41	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K41K(1)|p.K41N(1)		breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CAGATTGTCTCTTTATATAAA	0.368																																						uc003dza.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|breast(1)		0						c.(121-123)AAG>AAT		B and T lymphocyte associated isoform 1							75.0	72.0	73.0					3																	112198582		2203	4300	6503	SO:0001583	missense	151888				T cell costimulation		receptor activity	g.chr3:112198582C>A	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.123G>T	3.37:g.112198582C>A	ENSP00000333919:p.Lys41Asn					BTLA_uc003dzb.3_Missense_Mutation_p.K41N	p.K41N	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN			2	326	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	41			Extracellular (Potential).		Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	ENST00000334529.5	37	c.123G>T	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633370	0.47049	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.32988	1.79;1.43	3.27	3.27	0.37495	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.276491	0.25096	N	0.033168	T	0.43055	0.1230	L	0.54323	1.7	0.09310	N	0.999999	D;D	0.63046	0.992;0.989	P;P	0.60236	0.708;0.871	T	0.13442	-1.0509	10	0.66056	D	0.02	-0.9422	10.3039	0.43670	0.0:1.0:0.0:0.0	.	41;41	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	N	41	ENSP00000333919:K41N;ENSP00000373178:K41N	ENSP00000333919:K41N	K	-	3	2	BTLA	113681272	0.613000	0.27009	0.158000	0.22627	0.094000	0.18550	0.882000	0.28186	2.142000	0.66516	0.655000	0.94253	AAG		PASS	0.368	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1	NM_181780		43	118	43	118	---	---	---	---
GRAMD1C	54762	broad.mit.edu	37	3	113652396	113652397	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:113652396_113652397GG>TT	ENST00000358160.4	+	12	1740_1741	c.1248_1249GG>TT	c.(1246-1251)ttGGta>ttTTta	p.416_417LV>FL	GRAMD1C_ENST00000452134.2_Missense_Mutation_p.145_146LV>FL|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.249_250LV>FL|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.211_212LV>FL	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	416						integral component of membrane (GO:0016021)		p.L416F(1)|p.L416_V417>FL(1)|p.V417L(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GATTTTATTTGGTAGATTCAGA	0.356																																						uc003eaq.3																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|skin(1)	3						c.(1246-1248)TTG>TTT|c.(1249-1251)GTA>TTA		GRAM domain containing 1C																																				SO:0001583	missense	54762					integral to membrane		g.chr3:113652396G>T|g.chr3:113652397G>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	Exception_encountered	3.37:g.113652396_113652397delinsTT	ENSP00000350881:p.L416_V417delinsFL					GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.L249F|GRAMD1C_uc003eas.2_Missense_Mutation_p.L211F|GRAMD1C_uc003eat.2_Missense_Mutation_p.L75F|GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.V250L|GRAMD1C_uc003eas.2_Missense_Mutation_p.V212L|GRAMD1C_uc003eat.2_Missense_Mutation_p.V76L	p.L416F|p.V417L	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			12	1324|1325	+			416|417					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.1248G>T|c.1249G>T	CCDS33826.1																																																																																				PASS	0.356	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		59	193|194	59	193	---	---	---	---
LSAMP	4045	broad.mit.edu	37	3	115738364	115738364	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:115738364G>T	ENST00000490035.2	-	3	1011	c.512C>A	c.(511-513)aCt>aAt	p.T171N	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.T168N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	171	Ig-like C2-type 2.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T171N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TTGCTTACCAGTTGGTGTAAG	0.458																																						uc003ebt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)ACT>AAT		limbic system-associated membrane protein							126.0	99.0	108.0					3																	115738364		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115738364G>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.512C>A	3.37:g.115738364G>T	ENSP00000419000:p.Thr171Asn					LSAMP_uc011bis.1_Missense_Mutation_p.T171N	p.T171N	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	3	1012	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	171			Ig-like C2-type 2.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.512C>A	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962587	0.53400	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.64085	1.44;1.44;1.44;-0.08	5.92	4.1	0.47936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.155297	0.64402	D	0.000016	T	0.53546	0.1803	N	0.12611	0.24	0.36774	D	0.883988	P;P	0.49185	0.92;0.486	P;P	0.53224	0.721;0.484	T	0.61237	-0.7103	10	0.46703	T	0.11	-9.3639	10.438	0.44448	0.07:0.0:0.7951:0.1349	.	171;171	B2RCU8;Q13449	.;LSAMP_HUMAN	N	155;171;168;205	ENSP00000328455:T155N;ENSP00000419000:T171N;ENSP00000443429:T168N;ENSP00000418506:T205N	ENSP00000328455:T155N	T	-	2	0	LSAMP	117221054	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	3.008000	0.49544	0.810000	0.34279	0.655000	0.94253	ACT		PASS	0.458	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		20	77	20	77	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118621725	118621725	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:118621725G>A	ENST00000393775.2	-	7	1243	c.938C>T	c.(937-939)tCt>tTt	p.S313F	IGSF11_ENST00000489689.1_Missense_Mutation_p.S289F|IGSF11_ENST00000441144.2_Missense_Mutation_p.S288F|IGSF11_ENST00000354673.2_Missense_Mutation_p.S312F|IGSF11_ENST00000425327.2_Missense_Mutation_p.S312F|IGSF11_ENST00000491903.1_Missense_Mutation_p.S285F	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	313					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S313F(1)|p.S312F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCATTGGAAGAGGTTAGTGT	0.438																																						uc003ebw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(937-939)TCT>TTT		immunoglobulin superfamily, member 11 isoform b							126.0	131.0	129.0					3																	118621725		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621725G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.938C>T	3.37:g.118621725G>A	ENSP00000377370:p.Ser313Phe					IGSF11_uc011biv.1_Missense_Mutation_p.S285F|IGSF11_uc003ebx.2_Missense_Mutation_p.S289F|IGSF11_uc003eby.2_Missense_Mutation_p.S312F|IGSF11_uc003ebz.2_Missense_Mutation_p.S288F|IGSF11_uc010hqs.2_Missense_Mutation_p.S312F	p.S313F	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			7	1185	-			313			Cytoplasmic (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.938C>T	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392895	0.83011	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	D;D;D;D;D;D	0.90504	-1.54;-1.76;-2.66;-1.54;-2.68;-2.16	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.93083	0.7798	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.996;0.999;0.999;0.996;0.996	D	0.93545	0.6881	10	0.72032	D	0.01	.	18.2816	0.90099	0.0:0.0:1.0:0.0	.	285;288;312;289;313	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	F	312;313;289;312;288;285	ENSP00000406092:S312F;ENSP00000377370:S313F;ENSP00000420486:S289F;ENSP00000346700:S312F;ENSP00000401240:S288F;ENSP00000417413:S285F	ENSP00000346700:S312F	S	-	2	0	IGSF11	120104415	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.150000	0.94667	2.804000	0.96469	0.655000	0.94253	TCT		PASS	0.438	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			45	208	45	208	---	---	---	---
CASR	846	broad.mit.edu	37	3	121980430	121980430	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:121980430T>A	ENST00000490131.1	+	4	920	c.548T>A	c.(547-549)tTc>tAc	p.F183Y	CASR_ENST00000498619.1_Missense_Mutation_p.F183Y|CASR_ENST00000296154.5_Missense_Mutation_p.F183Y	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	183					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.F183Y(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTCAAGTCTTTCCTCCGAACC	0.507																																						uc003eev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(547-549)TTC>TAC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						128.0	135.0	133.0					3																	121980430		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980430T>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.548T>A	3.37:g.121980430T>A	ENSP00000418685:p.Phe183Tyr					CASR_uc003eew.3_Missense_Mutation_p.F183Y	p.F183Y	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	920	+			183			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.548T>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292099	0.80914	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.85556	-2.0;-2.0;-2.0	5.78	5.78	0.91487	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93223	0.7841	M	0.88512	2.96	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.987;0.995	D	0.93553	0.6888	10	0.48119	T	0.1	.	15.5859	0.76482	0.0:0.0:0.0:1.0	.	183;183	E7ENE0;P41180	.;CASR_HUMAN	Y	183	ENSP00000418685:F183Y;ENSP00000420194:F183Y;ENSP00000296154:F183Y	ENSP00000296154:F183Y	F	+	2	0	CASR	123463120	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.997000	0.88414	2.333000	0.79357	0.482000	0.46254	TTC		PASS	0.507	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		93	271	93	271	---	---	---	---
KBTBD12	166348	broad.mit.edu	37	3	127648994	127648994	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:127648994G>A	ENST00000405109.1	+	4	1827	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	KBTBD12_ENST00000405256.1_Missense_Mutation_p.E454K|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Missense_Mutation_p.E61K|KBTBD12_ENST00000343941.4_Missense_Mutation_p.E29K			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	454								p.E454K(1)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TCCTGATGAAGAACCTGATCG	0.393																																						uc010hsr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1360-1362)GAA>AAA		kelch domain containing 6							77.0	64.0	69.0					3																	127648994		2203	4298	6501	SO:0001583	missense	166348							g.chr3:127648994G>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1360G>A	3.37:g.127648994G>A	ENSP00000385957:p.Glu454Lys					KBTBD12_uc003ejy.3_Missense_Mutation_p.E61K|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Missense_Mutation_p.E29K	p.E454K	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN			3	1363	+			454			Kelch 2.		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1360G>A	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989823	0.93106	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;D	0.82711	-0.93;-0.74;-0.93;-1.64	5.81	4.93	0.64822	Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000020	D	0.87269	0.6135	L	0.39397	1.21	0.58432	D	0.999995	D;B	0.89917	1.0;0.054	D;B	0.87578	0.998;0.043	D	0.87981	0.2743	10	0.72032	D	0.01	.	15.2905	0.73862	0.0684:0.0:0.9316:0.0	.	454;29	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	K	454;61;454;29	ENSP00000385957:E454K;ENSP00000385830:E61K;ENSP00000385879:E454K;ENSP00000345478:E29K	ENSP00000345478:E29K	E	+	1	0	KBTBD12	129131684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.642000	0.83385	2.744000	0.94065	0.573000	0.79308	GAA		PASS	0.393	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		9	22	9	22	---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130437364	130437364	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:130437364G>A	ENST00000356763.3	-	8	2553	c.1996C>T	c.(1996-1998)Cat>Tat	p.H666Y		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	666					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H666Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAATTGGGATGACACAGGAAG	0.383																																						uc003enj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(1996-1998)CAT>TAT		phosphoinositide-3-kinase, regulatory subunit 4							90.0	85.0	86.0					3																	130437364		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130437364G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1996C>T	3.37:g.130437364G>A	ENSP00000349205:p.His666Tyr						p.H666Y	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			8	2577	-			666					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.1996C>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843650	0.91197	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87434	0.6176	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88133	0.2839	10	0.59425	D	0.04	-25.3522	19.2968	0.94126	0.0:0.0:1.0:0.0	.	666	Q99570	PI3R4_HUMAN	Y	666;25;25;25	ENSP00000349205:H666Y;ENSP00000427302:H25Y;ENSP00000424274:H25Y;ENSP00000422767:H25Y	ENSP00000349205:H666Y	H	-	1	0	PIK3R4	131920054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.281000	0.95811	2.562000	0.86427	0.555000	0.69702	CAT		PASS	0.383	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		41	137	41	137	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133098644	133098644	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:133098644A>G	ENST00000321871.6	+	4	299	c.89A>G	c.(88-90)cAg>cGg	p.Q30R	TMEM108_ENST00000515826.1_Missense_Mutation_p.Q30R|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.Q30R	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	30						integral component of membrane (GO:0016021)		p.Q30R(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTGCCATCCAGGAACCATCT	0.537																																						uc003eph.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(88-90)CAG>CGG		transmembrane protein 108 precursor							274.0	286.0	282.0					3																	133098644		2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133098644A>G	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.89A>G	3.37:g.133098644A>G	ENSP00000324651:p.Gln30Arg					TMEM108_uc003epi.2_Missense_Mutation_p.Q30R|TMEM108_uc003epj.1_Missense_Mutation_p.Q30R|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_5'UTR	p.Q30R	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	363	+			30			Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.89A>G	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	a	18.71	3.682118	0.68042	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000512137;ENST00000511555;ENST00000515826;ENST00000510183	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	4.26	4.26	0.50523	.	0.238103	0.21919	N	0.067198	T	0.47322	0.1439	L	0.44542	1.39	0.26040	N	0.981625	P;P	0.44139	0.827;0.728	P;B	0.46758	0.526;0.346	T	0.40365	-0.9567	10	0.41790	T	0.15	-1.1525	13.7164	0.62700	1.0:0.0:0.0:0.0	.	30;30	E9PB58;Q6UXF1	.;TM108_HUMAN	R	30	ENSP00000324651:Q30R;ENSP00000376838:Q30R;ENSP00000426301:Q30R;ENSP00000422196:Q30R;ENSP00000423338:Q30R;ENSP00000421486:Q30R	ENSP00000324651:Q30R	Q	+	2	0	TMEM108	134581334	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.118000	0.57884	1.710000	0.51325	0.454000	0.30748	CAG		PASS	0.537	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		165	631	165	631	---	---	---	---
CP	1356	broad.mit.edu	37	3	148928125	148928125	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:148928125C>A	ENST00000264613.6	-	3	698	c.436G>T	c.(436-438)Gat>Tat	p.D146Y		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	146	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.D146Y(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ACTTTGTCATCTGCTCTTTGA	0.418																																						uc003ewy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)GAT>TAT		ceruloplasmin precursor	Drotrecogin alfa(DB00055)						154.0	143.0	147.0					3																	148928125		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148928125C>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.436G>T	3.37:g.148928125C>A	ENSP00000264613:p.Asp146Tyr					CP_uc011bnr.1_RNA|CP_uc003ewx.3_5'Flank|CP_uc003ewz.2_Missense_Mutation_p.D146Y|CP_uc010hvf.1_5'Flank	p.D146Y	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		3	689	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	146			F5/8 type A 1.|Plastocyanin-like 1.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.436G>T	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148810	0.57151	.	.	ENSG00000047457	ENST00000264613	D	0.99369	-5.78	5.8	4.91	0.64330	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98650	1.0679	10	0.87932	D	0	-30.1146	16.1981	0.82043	0.1342:0.8657:0.0:0.0	.	146;146	A8K5A4;P00450	.;CERU_HUMAN	Y	146	ENSP00000264613:D146Y	ENSP00000264613:D146Y	D	-	1	0	CP	150410815	1.000000	0.71417	0.851000	0.33527	0.067000	0.16453	7.294000	0.78760	1.425000	0.47237	0.557000	0.71058	GAT		PASS	0.418	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		67	161	67	161	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167750315	167750315	+	Missense_Mutation	SNP	C	C	A	rs370361838		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:167750315C>A	ENST00000470487.1	-	9	1858	c.1169G>T	c.(1168-1170)cGt>cTt	p.R390L	GOLIM4_ENST00000309027.4_Missense_Mutation_p.R362L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	390	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R390L(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TACCTCAGCACGCGCGTGCCC	0.483																																						uc003ffe.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(1)	5						c.(1168-1170)CGT>CTT		golgi integral membrane protein 4							222.0	188.0	199.0					3																	167750315		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750315C>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1169G>T	3.37:g.167750315C>A	ENSP00000417354:p.Arg390Leu					GOLIM4_uc011bpe.1_Missense_Mutation_p.R390L|GOLIM4_uc011bpf.1_Missense_Mutation_p.R362L|GOLIM4_uc011bpg.1_Missense_Mutation_p.R362L	p.R390L	NM_014498	NP_055313	O00461	GOLI4_HUMAN			9	1513	-			390			Glu-rich.|Lumenal (Potential).			Missense_Mutation	SNP	ENST00000470487.1	37	c.1169G>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140528	0.37825	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.54	-11.1	0.00147	.	0.695127	0.14929	N	0.290197	T	0.13756	0.0333	N	0.22421	0.69	0.09310	N	1	B;B	0.28850	0.225;0.225	B;B	0.28011	0.085;0.085	T	0.03139	-1.1068	9	0.27785	T	0.31	1.7896	4.548	0.12090	0.0854:0.2221:0.4324:0.2601	.	362;390	F8W785;O00461	.;GOLI4_HUMAN	L	390;362	.	ENSP00000309893:R362L	R	-	2	0	GOLIM4	169233009	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.477000	0.06583	-1.935000	0.01049	-0.477000	0.04895	CGT		PASS	0.483	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			124	741	124	741	---	---	---	---
LRRIQ4	344657	broad.mit.edu	37	3	169539958	169539958	+	Silent	SNP	G	G	T	rs368657877		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:169539958G>T	ENST00000340806.6	+	1	249	c.249G>T	c.(247-249)ctG>ctT	p.L83L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	83								p.L83L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGAACAACCTGAGGAGCCTGT	0.527																																						uc003fgb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(247-249)CTG>CTT		leucine-rich repeats and IQ motif containing 4							69.0	75.0	73.0					3																	169539958		1895	4114	6009	SO:0001819	synonymous_variant	344657							g.chr3:169539958G>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.249G>T	3.37:g.169539958G>T							p.L83L	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	249	+			83			LRR 3.			Silent	SNP	ENST00000340806.6	37	c.249G>T	CCDS46951.1																																																																																				PASS	0.527	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		363	216	363	216	---	---	---	---
LRRIQ4	344657	broad.mit.edu	37	3	169548372	169548372	+	Silent	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:169548372G>A	ENST00000340806.6	+	3	1287	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	429								p.R429R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGATTGCCGGCACAATTTGC	0.443																																						uc003fgb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1285-1287)CGG>CGA		leucine-rich repeats and IQ motif containing 4							76.0	75.0	76.0					3																	169548372		1888	4110	5998	SO:0001819	synonymous_variant	344657							g.chr3:169548372G>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1287G>A	3.37:g.169548372G>A							p.R429R	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			3	1287	+			429			LRR 18.			Silent	SNP	ENST00000340806.6	37	c.1287G>A	CCDS46951.1																																																																																				PASS	0.443	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		20	119	20	119	---	---	---	---
GNB4	59345	broad.mit.edu	37	3	179119032	179119032	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:179119032G>T	ENST00000232564.3	-	10	1278	c.992C>A	c.(991-993)tCt>tAt	p.S331Y	AC007620.3_ENST00000598857.1_RNA|AC007620.3_ENST00000600539.1_RNA|AC007620.3_ENST00000495081.2_RNA|GNB4_ENST00000468623.1_Missense_Mutation_p.S331Y	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	331					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.S331Y(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ACTGTCCCAAGAGCCTGTTGC	0.398																																					Melanoma(105;1405 1491 7265 20440 33721)	uc003fjv.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(991-993)TCT>TAT		guanine nucleotide-binding protein, beta-4							70.0	65.0	67.0					3																	179119032		2203	4300	6503	SO:0001583	missense	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179119032G>T	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.992C>A	3.37:g.179119032G>T	ENSP00000232564:p.Ser331Tyr					GNB4_uc003fju.3_3'UTR	p.S331Y	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		10	1272	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		331			WD 7.		B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	c.992C>A	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762488	0.89932	.	.	ENSG00000114450	ENST00000232564;ENST00000468623	T;T	0.74421	-0.84;-0.84	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90625	0.7060	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93496	0.6840	10	0.87932	D	0	-1.4285	18.5626	0.91105	0.0:0.0:1.0:0.0	.	331	Q9HAV0	GBB4_HUMAN	Y	331	ENSP00000232564:S331Y;ENSP00000419693:S331Y	ENSP00000232564:S331Y	S	-	2	0	GNB4	180601726	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.718000	0.98758	2.436000	0.82500	0.644000	0.83932	TCT		PASS	0.398	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629		33	142	33	142	---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179292256	179292256	+	Splice_Site	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:179292256G>T	ENST00000429709.2	+	5	689		c.e5+1		ACTL6A_ENST00000450518.2_Splice_Site|ACTL6A_ENST00000392662.1_Splice_Site	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A						ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TTTTGACAGCGTATCCTTGAA	0.388																																						uc003fjw.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e5+1		actin-like 6A isoform 1							185.0	184.0	185.0					3																	179292256		2203	4300	6503	SO:0001630	splice_region_variant	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179292256G>T	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.476+1G>T	3.37:g.179292256G>T						ACTL6A_uc003fjx.2_Splice_Site_p.A117_splice|ACTL6A_uc003fjy.2_Splice_Site_p.A117_splice	p.A159_splice	NM_004301	NP_004292	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		5	649	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)							B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Splice_Site	SNP	ENST00000429709.2	37	c.476_splice	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716301	0.89205	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACTL6A	180774950	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.844000	0.99494	2.854000	0.98071	0.655000	0.94253	.		PASS	0.388	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301	Intron	100	557	100	557	---	---	---	---
ETV5	2119	broad.mit.edu	37	3	185769884	185769884	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:185769884C>A	ENST00000306376.5	-	12	1492	c.1246G>T	c.(1246-1248)Gcc>Tcc	p.A416S	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.A416S|ETV5_ENST00000537818.1_Missense_Mutation_p.A458S	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	416					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A416S(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TAGTTCATGGCTGGCCGGTTC	0.532			T	"""TMPRSS2, SCL45A3"""	Prostate																																	uc003fpz.2				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	TMPRSS2|SCL45A3		Prostate 		2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(1246-1248)GCC>TCC		ets variant gene 5 (ets-related molecule)							133.0	125.0	128.0					3																	185769884		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185769884C>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1246G>T	3.37:g.185769884C>A	ENSP00000306894:p.Ala416Ser					ETV5_uc003fpy.2_Missense_Mutation_p.A458S	p.A416S	NM_004454	NP_004445	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		12	1493	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		416			ETS.		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1246G>T	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113641	0.94339	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.52754	0.65;0.65;0.65	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	L	0.43923	1.385	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63175	-0.6696	10	0.59425	D	0.04	.	18.7291	0.91728	0.0:1.0:0.0:0.0	.	416;458	P41161;B7Z7D7	ETV5_HUMAN;.	S	416;416;458	ENSP00000306894:A416S;ENSP00000413755:A416S;ENSP00000441737:A458S	ENSP00000306894:A416S	A	-	1	0	ETV5	187252578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.706000	0.92434	0.591000	0.81541	GCC		PASS	0.532	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		82	111	82	111	---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186440291	186440291	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr3:186440291G>T	ENST00000265023.4	+	3	584	c.372G>T	c.(370-372)caG>caT	p.Q124H	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.Q124H|KNG1_ENST00000447445.1_Missense_Mutation_p.Q124H	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	124	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.|O-glycosylated at one site only.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.Q124H(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGGCTACCCAGACCTGCCAGA	0.493																																						uc011bsa.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(370-372)CAG>CAT		kininogen 1 isoform 1	Ouabain(DB01092)						113.0	101.0	105.0					3																	186440291		2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186440291G>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.372G>T	3.37:g.186440291G>T	ENSP00000265023:p.Gln124His					KNG1_uc003fqr.2_Missense_Mutation_p.Q124H	p.Q124H	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	3	584	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		124			Cystatin 1.|O-glycosylated at one site only.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.372G>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367758	0.42003	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.12879	2.64;2.64;2.64	4.67	4.67	0.58626	Proteinase inhibitor I25, cystatin (1);	0.000000	0.56097	D	0.000040	T	0.36690	0.0976	M	0.76328	2.33	0.43088	D	0.994753	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.10543	-1.0625	10	0.56958	D	0.05	-6.0015	13.7929	0.63152	0.0:0.0:1.0:0.0	.	124;124	P01042;P01042-2	KNG1_HUMAN;.	H	124;124;124;112	ENSP00000287611:Q124H;ENSP00000265023:Q124H;ENSP00000396025:Q124H	ENSP00000265023:Q124H	Q	+	3	2	KNG1	187922985	1.000000	0.71417	0.997000	0.53966	0.098000	0.18820	2.024000	0.41049	2.523000	0.85059	0.561000	0.74099	CAG		PASS	0.493	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		19	35	19	35	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4198988	4198988	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:4198988G>T	ENST00000296358.4	-	5	1597	c.1573C>A	c.(1573-1575)Cca>Aca	p.P525T		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	525					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.P525T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTGGGCTTGGGCTCCCTCCC	0.537																																						uc003ghp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1573-1575)CCA>ACA		otopetrin 1							54.0	59.0	57.0					4																	4198988		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4198988G>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1573C>A	4.37:g.4198988G>T	ENSP00000296358:p.Pro525Thr						p.P525T	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1603	-			525					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1573C>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	7.182	0.589732	0.13812	.	.	ENSG00000163982	ENST00000296358	T	0.08008	3.14	4.81	1.92	0.25849	.	28.869800	0.00649	N	0.000542	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.10450	0.005	T	0.34129	-0.9841	10	0.27785	T	0.31	-4.0635	1.7734	0.03016	0.2432:0.1376:0.4694:0.1498	.	525	Q7RTM1	OTOP1_HUMAN	T	525	ENSP00000296358:P525T	ENSP00000296358:P525T	P	-	1	0	OTOP1	4249889	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.181000	0.16880	0.125000	0.18397	0.508000	0.49915	CCA		PASS	0.537	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		44	72	44	72	---	---	---	---
ZBTB49	166793	broad.mit.edu	37	4	4304612	4304612	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:4304612G>T	ENST00000337872.4	+	3	1170	c.1049G>T	c.(1048-1050)aGc>aTc	p.S350I	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.S350I	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	350					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.S350I(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AAAGCTAGCAGCCAAAGTGCT	0.438																																						uc003ghu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1048-1050)AGC>ATC		zinc finger protein 509							49.0	50.0	49.0					4																	4304612		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4304612G>T	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1049G>T	4.37:g.4304612G>T	ENSP00000338807:p.Ser350Ile					ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.S50I	p.S350I	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			3	1224	+			350					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1049G>T	CCDS3375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.12|11.12	1.546011|1.546011	0.27652|0.27652	.|.	.|.	ENSG00000168826|ENSG00000168826	ENST00000504302|ENST00000355834;ENST00000337872	.|T;T	.|0.15952	.|2.38;2.77	5.35|5.35	4.45|4.45	0.53987|0.53987	.|.	.|0.545485	.|0.19271	.|N	.|0.118412	T|T	0.14657|0.14657	0.0354|0.0354	L|L	0.59436|0.59436	1.845|1.845	0.20873|0.20873	N|N	0.999839|0.999839	.|B;B	.|0.25955	.|0.065;0.138	.|B;B	.|0.23716	.|0.048;0.048	T|T	0.11690|0.11690	-1.0577|-1.0577	5|10	.|0.31617	.|T	.|0.26	.|.	3.9867|3.9867	0.09519|0.09519	0.085:0.1318:0.5762:0.207|0.085:0.1318:0.5762:0.207	.|.	.|350;350	.|Q6ZSB9-2;Q6ZSB9	.|.;ZBT49_HUMAN	S|I	87|350	.|ENSP00000348091:S350I;ENSP00000338807:S350I	.|ENSP00000338807:S350I	A|S	+|+	1|2	0|0	ZBTB49|ZBTB49	4355513|4355513	0.022000|0.022000	0.18835|0.18835	0.146000|0.146000	0.22360|0.22360	0.013000|0.013000	0.08279|0.08279	1.383000|1.383000	0.34385|0.34385	2.668000|2.668000	0.90789|0.90789	0.591000|0.591000	0.81541|0.81541	GCC|AGC		PASS	0.438	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		35	51	35	51	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5624376	5624376	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:5624376C>A	ENST00000344408.5	-	14	2442	c.2389G>T	c.(2389-2391)Gac>Tac	p.D797Y	EVC2_ENST00000344938.1_Missense_Mutation_p.D797Y|EVC2_ENST00000310917.2_Missense_Mutation_p.D717Y	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	797					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D797Y(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGGTCCCTGTCCCTCTCCTCC	0.662																																						uc003gij.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(2389-2391)GAC>TAC		limbin							77.0	52.0	60.0					4																	5624376		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5624376C>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2389G>T	4.37:g.5624376C>A	ENSP00000342144:p.Asp797Tyr					EVC2_uc011bwb.1_Missense_Mutation_p.D237Y|EVC2_uc003gik.2_Missense_Mutation_p.D717Y	p.D797Y	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			14	2443	-			797			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2389G>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937963	0.73557	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.75260	-0.92;-0.91;-0.91	5.44	5.44	0.79542	.	0.497453	0.24076	N	0.041779	T	0.75354	0.3838	L	0.47716	1.5	0.34392	D	0.69432	D	0.56521	0.976	P	0.47744	0.556	T	0.83283	-0.0037	10	0.62326	D	0.03	-7.5351	18.2385	0.89958	0.0:1.0:0.0:0.0	.	797	Q86UK5	LBN_HUMAN	Y	797;717;797	ENSP00000339954:D797Y;ENSP00000311683:D717Y;ENSP00000342144:D797Y	ENSP00000311683:D717Y	D	-	1	0	EVC2	5675277	0.032000	0.19561	0.799000	0.32177	0.776000	0.43924	2.049000	0.41288	2.549000	0.85964	0.462000	0.41574	GAC		PASS	0.662	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		18	53	18	53	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20555464	20555464	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:20555464C>A	ENST00000504154.1	+	26	2850	c.2598C>A	c.(2596-2598)aaC>aaA	p.N866K	SLIT2_ENST00000503823.1_Missense_Mutation_p.N858K|SLIT2_ENST00000273739.5_Missense_Mutation_p.N870K|SLIT2_ENST00000503837.1_Missense_Mutation_p.N862K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	866	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.N866K(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGATTGTAACATGCAGTGGT	0.453																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(2596-2598)AAC>AAA		slit homolog 2 precursor							151.0	135.0	140.0					4																	20555464		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20555464C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2598C>A	4.37:g.20555464C>A	ENSP00000422591:p.Asn866Lys					SLIT2_uc003gps.1_Missense_Mutation_p.N858K	p.N866K	NM_004787	NP_004778	O94813	SLIT2_HUMAN			26	2802	+			866			LRRCT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2598C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774923	0.49786	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;D	0.90197	1.85;1.85;1.85;1.85;-2.63	5.12	5.12	0.69794	Cysteine-rich flanking region, C-terminal (1);	0.091098	0.85682	D	0.000000	D	0.85839	0.5790	L	0.52126	1.63	0.58432	D	0.99999	B;B	0.12013	0.005;0.003	B;B	0.09377	0.004;0.004	T	0.79381	-0.1827	10	0.13470	T	0.59	.	11.9458	0.52928	0.0:0.873:0.0:0.127	.	858;866	O94813-3;O94813	.;SLIT2_HUMAN	K	858;866;870;862;862;67	ENSP00000427548:N858K;ENSP00000422591:N866K;ENSP00000273739:N870K;ENSP00000422261:N862K;ENSP00000421975:N67K	ENSP00000273739:N870K	N	+	3	2	SLIT2	20164562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.683000	0.37638	2.553000	0.86117	0.460000	0.39030	AAC		PASS	0.453	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			44	95	44	95	---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	21305524	21305524	+	Intron	SNP	G	G	C	rs543182795		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:21305524G>C	ENST00000382152.2	-	2	229				KCNIP4_ENST00000382150.4_Missense_Mutation_p.N2K|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000447367.2_Intron|RP11-120A1.1_ENST00000515680.2_RNA	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.N2K(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GCCCTTCCAAGTTCATGGTCA	0.433																																						uc003gqf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)AAC>AAG		Kv channel interacting protein 4 isoform 4							104.0	88.0	93.0					4																	21305524		2203	4300	6503	SO:0001627	intron_variant	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:21305524G>C	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.62-421192C>G	4.37:g.21305524G>C						KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron	p.N2K	NM_147183	NP_671712	Q6PIL6	KCIP4_HUMAN			1	6	-		Breast(46;0.134)	Error:Variant_position_missing_in_Q6PIL6_after_alignment					Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.6C>G	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268218	0.59540	.	.	ENSG00000185774	ENST00000382150	T	0.71341	-0.56	5.56	5.56	0.83823	.	.	.	.	.	T	0.64046	0.2563	L	0.38175	1.15	0.80722	D	1	B	0.24963	0.115	B	0.13407	0.009	T	0.59830	-0.7380	9	0.45353	T	0.12	.	19.5165	0.95167	0.0:0.0:1.0:0.0	.	2	Q3YAC0	.	K	2	ENSP00000371585:N2K	ENSP00000371585:N2K	N	-	3	2	KCNIP4	20914622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.075000	0.94004	2.615000	0.88500	0.655000	0.94253	AAC		PASS	0.433	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		22	42	22	42	---	---	---	---
TLR1	7096	broad.mit.edu	37	4	38798565	38798565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:38798565C>A	ENST00000502213.2	-	3	2117	c.1888G>T	c.(1888-1890)Gaa>Taa	p.E630*	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Nonsense_Mutation_p.E630*			Q15399	TLR1_HUMAN	toll-like receptor 1	630					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E630*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CTTTGGAGTTCTTCTAAGGGT	0.483																																					GBM(5;216 373 40795 46382)	uc003gtl.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(1888-1890)GAA>TAA		toll-like receptor 1 precursor							89.0	92.0	91.0					4																	38798565		2203	4300	6503	SO:0001587	stop_gained	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798565C>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1888G>T	4.37:g.38798565C>A	ENSP00000421259:p.Glu630*						p.E630*	NM_003263	NP_003254	Q15399	TLR1_HUMAN			4	2162	-			630			Cytoplasmic (Potential).		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Nonsense_Mutation	SNP	ENST00000502213.2	37	c.1888G>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	37	6.406815	0.97542	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	.	.	.	5.5	2.83	0.33086	.	0.635877	0.15080	N	0.281694	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.7965	0.34883	0.0:0.7139:0.0:0.2861	.	.	.	.	X	630	.	ENSP00000354932:E630X	E	-	1	0	TLR1	38474960	0.002000	0.14202	0.444000	0.26895	0.591000	0.36615	1.052000	0.30429	0.814000	0.34374	0.563000	0.77884	GAA		PASS	0.483	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			91	165	91	165	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72121047	72121047	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:72121047G>T	ENST00000264485.5	+	3	301	c.184G>T	c.(184-186)Gag>Tag	p.E62*	SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.E62*|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.E62*	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	62					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.E62*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GAGAATCTCTGAGAACTACTC	0.448																																						uc003hfy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|kidney(1)|skin(1)	5						c.(184-186)GAG>TAG		solute carrier family 4, sodium bicarbonate							140.0	145.0	143.0					4																	72121047		1930	4129	6059	SO:0001587	stop_gained	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72121047G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.184G>T	4.37:g.72121047G>T	ENSP00000264485:p.Glu62*					SLC4A4_uc010iic.2_Nonsense_Mutation_p.E62*|SLC4A4_uc010iib.2_Nonsense_Mutation_p.E62*|SLC4A4_uc003hfz.2_Nonsense_Mutation_p.E62*|SLC4A4_uc003hga.2_5'UTR	p.E62*	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		3	301	+			62			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Nonsense_Mutation	SNP	ENST00000264485.5	37	c.184G>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	40	8.205593	0.98704	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898	.	.	.	5.7	5.7	0.88788	.	0.189299	0.47093	D	0.000242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	19.8483	0.96728	0.0:0.0:1.0:0.0	.	.	.	.	X	62	.	ENSP00000264485:E62X	E	+	1	0	SLC4A4	72339911	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.416000	0.97383	2.690000	0.91761	0.650000	0.86243	GAG		PASS	0.448	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		59	116	59	116	---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87622436	87622436	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:87622436C>T	ENST00000411767.2	+	7	740	c.677C>T	c.(676-678)cCa>cTa	p.P226L	PTPN13_ENST00000427191.2_Missense_Mutation_p.P226L|PTPN13_ENST00000316707.6_Missense_Mutation_p.P226L|PTPN13_ENST00000436978.1_Missense_Mutation_p.P226L|PTPN13_ENST00000511467.1_Missense_Mutation_p.P226L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	226					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.P226L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAAAAGCCTCCACTCTCTCAT	0.338																																						uc003hpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(676-678)CCA>CTA		protein tyrosine phosphatase, non-receptor type							49.0	45.0	46.0					4																	87622436		1828	4089	5917	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87622436C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.677C>T	4.37:g.87622436C>T	ENSP00000407249:p.Pro226Leu					PTPN13_uc003hpy.2_Missense_Mutation_p.P226L|PTPN13_uc003hqa.2_Missense_Mutation_p.P226L|PTPN13_uc003hqb.2_Missense_Mutation_p.P226L	p.P226L	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1157	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	226					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.677C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940921	0.52972	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.55	5.55	0.83447	.	0.351455	0.21151	N	0.079340	T	0.38825	0.1055	L	0.57536	1.79	0.42344	D	0.992342	P;P;P;P	0.42337	0.776;0.692;0.565;0.692	P;B;B;B	0.46362	0.514;0.311;0.164;0.311	T	0.06807	-1.0806	10	0.30854	T	0.27	.	15.2347	0.73419	0.1491:0.8509:0.0:0.0	.	226;226;226;226	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	L	226;226;226;226;226;194	ENSP00000408368:P226L;ENSP00000394794:P226L;ENSP00000322675:P226L;ENSP00000407249:P226L;ENSP00000426626:P226L	ENSP00000322675:P226L	P	+	2	0	PTPN13	87841460	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.798000	0.47884	2.617000	0.88574	0.557000	0.71058	CCA		PASS	0.338	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			9	28	9	28	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111470932	111470932	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:111470932G>T	ENST00000265162.5	+	17	2733	c.2391G>T	c.(2389-2391)gaG>gaT	p.E797D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	797					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.E797D(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)		CTGGCAATGAGATTTCATGGA	0.403																																						uc003iab.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(2389-2391)GAG>GAT		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						121.0	116.0	118.0					4																	111470932		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.chr4:111470932G>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.2391G>T	4.37:g.111470932G>T	ENSP00000265162:p.Glu797Asp						p.E797D	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	17	2733	+		Hepatocellular(203;0.217)	797			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.2391G>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703490	0.68501	.	.	ENSG00000138792	ENST00000265162	T	0.06142	3.34	5.27	3.26	0.37387	.	0.144119	0.64402	D	0.000009	T	0.19565	0.0470	M	0.78637	2.42	0.46798	D	0.9992	D	0.58268	0.982	P	0.60949	0.881	T	0.00885	-1.1527	10	0.45353	T	0.12	.	10.9007	0.47049	0.2047:0.0:0.7953:0.0	.	797	Q07075	AMPE_HUMAN	D	797	ENSP00000265162:E797D	ENSP00000265162:E797D	E	+	3	2	ENPEP	111690381	0.786000	0.28738	0.963000	0.40424	0.991000	0.79684	1.101000	0.31037	1.229000	0.43630	0.655000	0.94253	GAG		PASS	0.403	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			47	122	47	122	---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113353197	113353198	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:113353197_113353198TC>AA	ENST00000458497.1	+	11	2773_2774	c.2494_2495TC>AA	c.(2494-2496)TCc>AAc	p.S832N	ALPK1_ENST00000504176.2_Missense_Mutation_p.S754N|ALPK1_ENST00000177648.9_Missense_Mutation_p.S832N	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	832							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S832Y(1)|p.S832N(1)|p.S832T(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AAATCCTGACTCCAGAAAAAGT	0.54																																						uc003iap.3																			3	Substitution - Missense(3)		lung(3)	ovary(5)	5						c.(2494-2496)TCC>ACC|c.(2494-2496)TCC>TAC		alpha-kinase 1																																				SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353197T>A|g.chr4:113353198C>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	Exception_encountered	4.37:g.113353197_113353198delinsAA	ENSP00000398048:p.Ser832Asn					ALPK1_uc003ian.3_Missense_Mutation_p.S832T|ALPK1_uc011cfx.1_Missense_Mutation_p.S754T|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.S660T|ALPK1_uc003ian.3_Missense_Mutation_p.S832Y|ALPK1_uc011cfx.1_Missense_Mutation_p.S754Y|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.S660Y	p.S832T|p.S832Y	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2773|2774	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	832					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2494T>A|c.2495C>A	CCDS3697.1																																																																																				PASS	0.540	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		19	33	19	33	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114120241	114120241	+	Silent	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:114120241A>T	ENST00000357077.4	+	4	413	c.360A>T	c.(358-360)ggA>ggT	p.G120G	ANK2_ENST00000394537.3_Silent_p.G120G|ANK2_ENST00000506722.1_Silent_p.G99G|ANK2_ENST00000264366.6_Silent_p.G120G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	120					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|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 heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G120G(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTAAGGAAGGAGCCAATATTA	0.343																																						uc003ibe.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(358-360)GGA>GGT		ankyrin 2 isoform 1							133.0	131.0	132.0					4																	114120241		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114120241A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.360A>T	4.37:g.114120241A>T						ANK2_uc003ibd.3_Silent_p.G99G|ANK2_uc003ibf.3_Silent_p.G120G|ANK2_uc003ibc.2_Silent_p.G96G|ANK2_uc011cgb.1_Silent_p.G135G	p.G120G	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	4	460	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	120			ANK 3.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.360A>T	CCDS3702.1																																																																																				PASS	0.343	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		31	67	31	67	---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122754443	122754443	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:122754443C>T	ENST00000264499.4	-	15	1802	c.1619G>A	c.(1618-1620)tGt>tAt	p.C540Y	BBS7_ENST00000506636.1_Missense_Mutation_p.C540Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	540					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.C540Y(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAATGTCACACATTCTCCTGC	0.388									Bardet-Biedl syndrome																													uc003ied.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1618-1620)TGT>TAT		Bardet-Biedl syndrome 7 protein isoform a							73.0	73.0	73.0					4																	122754443		2203	4300	6503	SO:0001583	missense	55212	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122754443C>T	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1619G>A	4.37:g.122754443C>T	ENSP00000264499:p.Cys540Tyr					BBS7_uc003iee.1_Missense_Mutation_p.C540Y	p.C540Y	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN			15	1793	-			540					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.1619G>A	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377296	0.42105	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.95035	-3.59;-3.59	5.92	5.06	0.68205	.	0.301676	0.40302	N	0.001130	D	0.90164	0.6926	L	0.36672	1.1	0.31361	N	0.681418	B	0.21520	0.057	B	0.15484	0.013	D	0.88159	0.2856	10	0.59425	D	0.04	-6.485	10.2847	0.43560	0.0:0.7934:0.1366:0.07	.	540	Q8IWZ6	BBS7_HUMAN	Y	540	ENSP00000264499:C540Y;ENSP00000423626:C540Y	ENSP00000264499:C540Y	C	-	2	0	BBS7	122973893	0.867000	0.29959	1.000000	0.80357	0.997000	0.91878	1.483000	0.35497	1.445000	0.47624	0.650000	0.86243	TGT		PASS	0.388	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			52	84	52	84	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151336617	151336617	+	Silent	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:151336617T>C	ENST00000357115.3	-	48	7443	c.7200A>G	c.(7198-7200)tcA>tcG	p.S2400S	LRBA_ENST00000507224.1_Silent_p.S2389S|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Silent_p.S2389S|LRBA_ENST00000510413.1_Silent_p.S2389S	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2400	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S2400S(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CAAATTCTTCTGAGGTTTTGG	0.378																																						uc010ipj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(7198-7200)TCA>TCG		LPS-responsive vesicle trafficking, beach and							114.0	106.0	109.0					4																	151336617		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151336617T>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7200A>G	4.37:g.151336617T>C						LRBA_uc010ipi.2_Intron|LRBA_uc003ils.3_Silent_p.S290S|LRBA_uc003ilt.3_Silent_p.S1048S|LRBA_uc003ilu.3_Silent_p.S2389S	p.S2400S	NM_006726	NP_006717	P50851	LRBA_HUMAN			48	7674	-	all_hematologic(180;0.151)		2400			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.7200A>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.288805	0.23478	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.82	-3.83	0.04269	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37820	-0.9689	4	.	.	.	.	1.5205	0.02514	0.44:0.1284:0.1136:0.318	.	.	.	.	R	1042	.	.	Q	-	2	0	LRBA	151556067	0.736000	0.28164	0.991000	0.47740	0.997000	0.91878	-0.201000	0.09464	-0.434000	0.07275	0.455000	0.32223	CAG		PASS	0.378	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			27	62	27	62	---	---	---	---
NPY2R	4887	broad.mit.edu	37	4	156135714	156135714	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:156135714C>T	ENST00000329476.3	+	2	1112	c.623C>T	c.(622-624)cCt>cTt	p.P208L	NPY2R_ENST00000506608.1_Missense_Mutation_p.P208L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	208					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.P208L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GAAAAGTGGCCTGGCGAGGAG	0.488																																						uc003ioq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(622-624)CCT>CTT		neuropeptide Y receptor Y2							121.0	124.0	123.0					4																	156135714		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135714C>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.623C>T	4.37:g.156135714C>T	ENSP00000332591:p.Pro208Leu					NPY2R_uc003ior.2_Missense_Mutation_p.P208L	p.P208L	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	1118	+	all_hematologic(180;0.24)	Renal(120;0.0854)	208			Extracellular (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.623C>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603501	0.66445	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.29917	1.55;1.55	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66760	-0.5842	10	0.54805	T	0.06	.	18.9139	0.92496	0.0:1.0:0.0:0.0	.	208	P49146	NPY2R_HUMAN	L	208	ENSP00000332591:P208L;ENSP00000426366:P208L	ENSP00000332591:P208L	P	+	2	0	NPY2R	156355164	1.000000	0.71417	0.973000	0.42090	0.611000	0.37282	6.089000	0.71384	2.709000	0.92574	0.643000	0.83706	CCT		PASS	0.488	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		34	140	34	140	---	---	---	---
RXFP1	59350	broad.mit.edu	37	4	159533290	159533290	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:159533290G>C	ENST00000307765.5	+	7	796	c.545G>C	c.(544-546)aGt>aCt	p.S182T	RXFP1_ENST00000343542.5_Missense_Mutation_p.S182T|RXFP1_ENST00000460056.2_Missense_Mutation_p.S101T|RXFP1_ENST00000470033.1_Missense_Mutation_p.S149T|RXFP1_ENST00000448688.2_Missense_Mutation_p.S101T	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	182					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.S182T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGGTATCTCAGTCATAACAGA	0.299																																						uc003ipz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)AGT>ACT		relaxin/insulin-like family peptide receptor 1							142.0	127.0	132.0					4																	159533290		1796	4062	5858	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159533290G>C	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.545G>C	4.37:g.159533290G>C	ENSP00000303248:p.Ser182Thr					RXFP1_uc010iqj.1_Missense_Mutation_p.S11T|RXFP1_uc011cja.1_Missense_Mutation_p.S101T|RXFP1_uc010iqo.2_Missense_Mutation_p.S182T|RXFP1_uc011cjb.1_Missense_Mutation_p.S128T|RXFP1_uc010iqk.2_Missense_Mutation_p.S50T|RXFP1_uc011cjc.1_Missense_Mutation_p.S101T|RXFP1_uc011cjd.1_Missense_Mutation_p.S101T|RXFP1_uc010iql.2_Missense_Mutation_p.S50T|RXFP1_uc011cje.1_Missense_Mutation_p.S209T|RXFP1_uc010iqm.2_Missense_Mutation_p.S149T|RXFP1_uc011cjf.1_Missense_Mutation_p.S52T|RXFP1_uc010iqn.2_Missense_Mutation_p.S128T	p.S182T	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	7	627	+	all_hematologic(180;0.24)	Renal(120;0.0854)	182			Extracellular (Potential).|LRR 2.		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.545G>C	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397434	0.62177	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.72353	2.195	0.44985	D	0.998006	P;P;P;B;B;P;B;D;P	0.55800	0.835;0.545;0.835;0.034;0.069;0.767;0.07;0.973;0.886	P;P;P;B;B;P;B;P;P	0.56612	0.641;0.609;0.728;0.128;0.202;0.588;0.297;0.802;0.788	T	0.68017	-0.5520	10	0.41790	T	0.15	.	12.2188	0.54423	0.0831:0.0:0.9169:0.0	.	193;209;101;182;149;101;52;119;182	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;.;RXFP1_HUMAN	T	101;182;101;182;149;52	ENSP00000423306:S101T;ENSP00000303248:S182T;ENSP00000414885:S101T;ENSP00000345889:S182T;ENSP00000420712:S149T	ENSP00000303248:S182T	S	+	2	0	RXFP1	159752740	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.943000	0.70211	2.624000	0.88883	0.655000	0.94253	AGT		PASS	0.299	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		15	151	15	151	---	---	---	---
ANXA10	11199	broad.mit.edu	37	4	169102890	169102890	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:169102890C>A	ENST00000359299.3	+	10	967	c.781C>A	c.(781-783)Cat>Aat	p.H261N		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	261						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.H261N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TAGTGCAATTCATGTAAGTAA	0.299																																						uc003irm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)CAT>AAT		annexin A10							111.0	113.0	113.0					4																	169102890		2202	4297	6499	SO:0001583	missense	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169102890C>A	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.781C>A	4.37:g.169102890C>A	ENSP00000352248:p.His261Asn					ANXA10_uc003irn.2_Missense_Mutation_p.H133N	p.H261N	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	10	926	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	261			Annexin 4.		Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	c.781C>A	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228641	0.58777	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.03035	4.07	5.82	4.96	0.65561	.	0.175595	0.40818	N	0.001003	T	0.03477	0.0100	N	0.11698	0.16	0.49483	D	0.999799	B;P	0.43231	0.003;0.801	B;B	0.39971	0.015;0.315	T	0.55010	-0.8207	10	0.87932	D	0	.	16.03	0.80572	0.1355:0.8645:0.0:0.0	.	133;261	Q6ITU8;Q9UJ72	.;ANX10_HUMAN	N	261	ENSP00000352248:H261N	ENSP00000352248:H261N	H	+	1	0	ANXA10	169339465	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.786000	0.55431	1.390000	0.46547	0.655000	0.94253	CAT		PASS	0.299	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		33	91	33	91	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175898963	175898963	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:175898963G>A	ENST00000359240.3	+	5	2957	c.2287G>A	c.(2287-2289)Gtg>Atg	p.V763M	ADAM29_ENST00000404450.4_Missense_Mutation_p.V763M|ADAM29_ENST00000514159.1_Missense_Mutation_p.V763M|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.V763M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	763	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V763M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCAACCTCCTGTGACACCCTC	0.567																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(2287-2289)GTG>ATG		ADAM metallopeptidase domain 29 preproprotein							171.0	149.0	156.0					4																	175898963		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898963G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2287G>A	4.37:g.175898963G>A	ENSP00000352177:p.Val763Met					ADAM29_uc003iud.2_Missense_Mutation_p.V763M|ADAM29_uc010irr.2_Missense_Mutation_p.V763M|ADAM29_uc011cki.1_Missense_Mutation_p.V763M	p.V763M	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2957	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	763			Cytoplasmic (Potential).|9 X 9 AA approximate repeats.|3.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2287G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	g	5.570	0.290004	0.10567	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	0.537	-0.478	0.12093	.	.	.	.	.	T	0.00936	0.0031	N	0.08118	0	0.09310	N	1	P	0.50819	0.939	B	0.33339	0.162	T	0.50162	-0.8860	8	.	.	.	.	3.7153	0.08435	0.6278:0.0:0.3722:0.0	.	763	Q9UKF5	ADA29_HUMAN	M	763	ENSP00000352177:V763M;ENSP00000414544:V763M;ENSP00000384229:V763M;ENSP00000423517:V763M	.	V	+	1	0	ADAM29	176135538	0.001000	0.12720	0.000000	0.03702	0.055000	0.15305	0.111000	0.15458	-0.273000	0.09246	0.297000	0.19635	GTG		PASS	0.567	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				7	217	7	217	---	---	---	---
UFSP2	55325	broad.mit.edu	37	4	186336339	186336339	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:186336339T>C	ENST00000264689.6	-	6	770	c.654A>G	c.(652-654)atA>atG	p.I218M	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'Flank	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	218						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)	p.I218M(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGCCATCTGGTATTCCTGAAG	0.323																																						uc003ixo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)ATA>ATG		UFM1-specific peptidase 2							67.0	69.0	69.0					4																	186336339		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186336339T>C	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.654A>G	4.37:g.186336339T>C	ENSP00000264689:p.Ile218Met					UFSP2_uc003ixn.2_Missense_Mutation_p.I108M|UFSP2_uc003ixq.2_Missense_Mutation_p.I108M|UFSP2_uc003ixp.2_RNA	p.I218M	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	6	771	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	218					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.654A>G	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.53|13.53	2.264424|2.264424	0.39995|0.39995	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000264689|ENST00000511485	T|.	0.31769|.	1.48|.	5.87|5.87	-0.63|-0.63	0.11530|0.11530	.|.	0.128174|.	0.53938|.	D|.	0.000055|.	T|T	0.35941|0.35941	0.0949|0.0949	L|L	0.36672|0.36672	1.1|1.1	0.33997|0.33997	D|D	0.649872|0.649872	P;B|.	0.41748|.	0.761;0.314|.	B;B|.	0.32864|.	0.154;0.056|.	T|T	0.41610|0.41610	-0.9499|-0.9499	10|5	0.29301|.	T|.	0.29|.	-23.4946|-23.4946	4.7282|4.7282	0.12952|0.12952	0.5142:0.0:0.1086:0.3772|0.5142:0.0:0.1086:0.3772	.|.	218;118|.	Q9NUQ7;B3KRI4|.	UFSP2_HUMAN;.|.	M|A	218|132	ENSP00000264689:I218M|.	ENSP00000264689:I218M|.	I|T	-|-	3|1	3|0	UFSP2|UFSP2	186573333|186573333	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.987000|0.987000	0.75469|0.75469	1.025000|1.025000	0.30090|0.30090	-0.298000|-0.298000	0.08921|0.08921	-0.347000|-0.347000	0.07816|0.07816	ATA|ACC		PASS	0.323	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		4	104	4	104	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189013004	189013004	+	Silent	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr4:189013004A>G	ENST00000512729.1	-	7	1061	c.687T>C	c.(685-687)gaT>gaC	p.D229D	TRIML2_ENST00000326754.3_Silent_p.D254D	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	229	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.D229D(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGCCAGCCCCATCCTGCTGCC	0.532																																						uc003izl.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(685-687)GAT>GAC		tripartite motif family-like 2							93.0	94.0	94.0					4																	189013004		2203	4300	6503	SO:0001819	synonymous_variant	205860						ligase activity	g.chr4:189013004A>G	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.687T>C	4.37:g.189013004A>G						TRIML2_uc003izj.1_Silent_p.D57D|TRIML2_uc003izk.1_Silent_p.D37D|TRIML2_uc011cle.1_Silent_p.D304D	p.D229D	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	723	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	229			B30.2/SPRY.		B7Z6J6	Silent	SNP	ENST00000512729.1	37	c.687T>C	CCDS3850.1																																																																																				PASS	0.532	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		10	143	10	143	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	878484	878484	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:878484C>A	ENST00000467963.1	-	11	1423	c.1257G>T	c.(1255-1257)gtG>gtT	p.V419V	BRD9_ENST00000323510.4_Silent_p.V323V|BRD9_ENST00000388890.4_Silent_p.V303V|BRD9_ENST00000483173.1_Silent_p.V366V|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000435709.2_3'UTR	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	419					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.V323V(1)|p.V419V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCGCACACTGCACGCCTGTCT	0.592																																						uc003jbq.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1255-1257)GTG>GTT		bromodomain containing 9 isoform 1							124.0	103.0	110.0					5																	878484		2203	4300	6503	SO:0001819	synonymous_variant	65980						nucleic acid binding	g.chr5:878484C>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1257G>T	5.37:g.878484C>A						BRD9_uc003jbl.2_Silent_p.V303V|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.V366V|BRD9_uc003jbo.2_Silent_p.V323V|BRD9_uc003jbp.2_Silent_p.V80V|BRD9_uc011cmc.1_RNA	p.V419V	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		11	1424	-			419					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	c.1257G>T	CCDS34127.2																																																																																				PASS	0.592	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		26	296	26	296	---	---	---	---
TRIP13	9319	broad.mit.edu	37	5	904320	904320	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:904320T>G	ENST00000166345.3	+	6	949	c.593T>G	c.(592-594)aTt>aGt	p.I198S		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	198					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)	p.I198S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			AAATTGACAATTAGACTTTCA	0.383																																						uc003jbr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)ATT>AGT		thyroid hormone receptor interactor 13							91.0	89.0	90.0					5																	904320		2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:904320T>G	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.593T>G	5.37:g.904320T>G	ENSP00000166345:p.Ile198Ser					TRIP13_uc010ite.1_Missense_Mutation_p.I198S	p.I198S	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		6	703	+			198					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.593T>G	CCDS3858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.40|15.40	2.823630|2.823630	0.50739|0.50739	.|.	.|.	ENSG00000071539|ENSG00000071539	ENST00000166345|ENST00000513435	D|.	0.92858|.	-3.12|.	5.14|5.14	5.14|5.14	0.70334|0.70334	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68339|0.68339	0.2990|0.2990	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.67007|0.67007	-0.5779|-0.5779	10|5	0.87932|.	D|.	0|.	-19.4884|-19.4884	14.6203|14.6203	0.68579|0.68579	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	198|.	Q15645|.	PCH2_HUMAN|.	S|V	198|194	ENSP00000166345:I198S|.	ENSP00000166345:I198S|.	I|L	+|+	2|1	0|2	TRIP13|TRIP13	957320|957320	1.000000|1.000000	0.71417|0.71417	0.887000|0.887000	0.34795|0.34795	0.038000|0.038000	0.13279|0.13279	7.134000|7.134000	0.77268|0.77268	1.946000|1.946000	0.56461|0.56461	0.402000|0.402000	0.26972|0.26972	ATT|TTA		PASS	0.383	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		123	132	123	132	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5463893	5463893	+	Silent	SNP	G	G	A	rs566445452		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:5463893G>A	ENST00000296564.7	+	13	4668	c.4446G>A	c.(4444-4446)gaG>gaA	p.E1482E		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1482					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.E1482E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CATTTCAGGAGGCTCCATGTG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		19530	0.001		0.0	False		,,,				2504	0.0					uc003jdm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4444-4446)GAG>GAA		hypothetical protein LOC23379							76.0	73.0	74.0					5																	5463893		1919	4128	6047	SO:0001819	synonymous_variant	23379							g.chr5:5463893G>A																												ENST00000296564.7:c.4446G>A	5.37:g.5463893G>A							p.E1482E	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	4668	+			1482					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.4446G>A	CCDS47187.1																																																																																				PASS	0.498	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			144	170	144	170	---	---	---	---
FASTKD3	79072	broad.mit.edu	37	5	7867909	7867909	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:7867909A>C	ENST00000264669.5	-	2	424	c.288T>G	c.(286-288)aaT>aaG	p.N96K	MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	96					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.N96K(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACTCTCCTCATTTTTAACAT	0.413																																						uc003jeb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(286-288)AAT>AAG		FAST kinase domains 3							64.0	62.0	63.0					5																	7867909		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867909A>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.288T>G	5.37:g.7867909A>C	ENSP00000264669:p.Asn96Lys					FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.N96K	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	425	-			96					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.288T>G	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	A	7.377	0.627984	0.14257	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.23552	1.9;1.9;1.9	4.43	-7.61	0.01299	.	1.360510	0.04627	N	0.402921	T	0.17704	0.0425	L	0.56769	1.78	0.09310	N	1	B	0.23806	0.091	B	0.19148	0.024	T	0.39820	-0.9595	10	0.02654	T	1	-0.6383	7.8026	0.29183	0.548:0.2002:0.2518:0.0	.	96	Q14CZ7	FAKD3_HUMAN	K	96;96;79	ENSP00000264669:N96K;ENSP00000426008:N96K;ENSP00000422443:N79K	ENSP00000264669:N96K	N	-	3	2	FASTKD3	7920909	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.652000	0.00856	-1.496000	0.01828	-0.250000	0.11733	AAT		PASS	0.413	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		28	167	28	167	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9054296	9054296	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:9054296C>A	ENST00000382496.5	-	19	3257	c.2592G>T	c.(2590-2592)agG>agT	p.R864S	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	864	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.R864S(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAGAGCGGGTCCTCATATAGT	0.582																																						uc003jek.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2590-2592)AGG>AGT		semaphorin 5A precursor							68.0	62.0	64.0					5																	9054296		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9054296C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2592G>T	5.37:g.9054296C>A	ENSP00000371936:p.Arg864Ser						p.R864S	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			19	3304	-			864			TSP type-1 6.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2592G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298681	0.81025	.	.	ENSG00000112902	ENST00000382496	T	0.80824	-1.42	5.59	3.75	0.43078	.	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	M	0.86178	2.8	0.58432	D	0.999999	P	0.49696	0.927	P	0.54706	0.759	D	0.86290	0.1673	10	0.87932	D	0	.	8.7823	0.34798	0.0:0.7626:0.1524:0.085	.	864	Q13591	SEM5A_HUMAN	S	864	ENSP00000371936:R864S	ENSP00000371936:R864S	R	-	3	2	SEMA5A	9107296	0.995000	0.38212	1.000000	0.80357	0.803000	0.45373	0.222000	0.17699	0.780000	0.33566	0.561000	0.74099	AGG		PASS	0.582	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			33	143	33	143	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19473548	19473548	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:19473548C>A	ENST00000507958.1	-	15	3150	c.2160G>T	c.(2158-2160)ctG>ctT	p.L720L	CDH18_ENST00000382275.1_Silent_p.L720L|CDH18_ENST00000274170.4_Silent_p.L720L|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	720					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.L720L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGCTTCTGCCAGTCTTTGCT	0.498																																						uc003jgc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(2158-2160)CTG>CTT		cadherin 18, type 2 preproprotein							191.0	175.0	181.0					5																	19473548		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473548C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2160G>T	5.37:g.19473548C>A						CDH18_uc003jgd.2_Silent_p.L720L|CDH18_uc011cnm.1_3'UTR	p.L720L	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2537	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		720			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.2160G>T	CCDS3889.1																																																																																				PASS	0.498	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		33	131	33	131	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19473613	19473613	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:19473613G>C	ENST00000507958.1	-	15	3085	c.2095C>G	c.(2095-2097)Ccc>Gcc	p.P699A	CDH18_ENST00000382275.1_Missense_Mutation_p.P699A|CDH18_ENST00000274170.4_Missense_Mutation_p.P699A|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	699					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.P699A(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGTGTCTGGGAGTGAGCTTC	0.502																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(2095-2097)CCC>GCC		cadherin 18, type 2 preproprotein							196.0	167.0	177.0					5																	19473613		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473613G>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2095C>G	5.37:g.19473613G>C	ENSP00000425093:p.Pro699Ala					CDH18_uc003jgd.2_Missense_Mutation_p.P699A|CDH18_uc011cnm.1_3'UTR	p.P699A	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2472	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		699			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2095C>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171814	0.57584	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.78003	-1.14;-1.14;-1.14	6.01	6.01	0.97437	Cadherin, cytoplasmic domain (1);	0.184686	0.49305	D	0.000142	T	0.78723	0.4328	M	0.73962	2.25	0.58432	D	0.999993	B	0.02656	0.0	B	0.09377	0.004	T	0.72027	-0.4414	9	.	.	.	.	19.085	0.93200	0.0:0.0:1.0:0.0	.	699	Q13634	CAD18_HUMAN	A	699	ENSP00000371710:P699A;ENSP00000425093:P699A;ENSP00000274170:P699A	.	P	-	1	0	CDH18	19509370	1.000000	0.71417	0.991000	0.47740	0.902000	0.53008	3.801000	0.55545	2.861000	0.98227	0.650000	0.86243	CCC		PASS	0.502	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		46	193	46	193	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32395264	32395264	+	Splice_Site	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:32395264C>T	ENST00000265069.8	-	11	2082		c.e11+1		MIR579_ENST00000385221.1_RNA	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein						multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AAAGATATTACCTCATTTCCA	0.403																																						uc003jhr.1																			1	Unknown(1)		lung(1)		0						c.e11+1		zinc finger RNA binding protein							218.0	200.0	206.0					5																	32395264		2203	4300	6503	SO:0001630	splice_region_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32395264C>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1979+1G>A	5.37:g.32395264C>T						MIR579_hsa-mir-579|MI0003586_5'Flank	p.R660_splice	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	11	2059	-								B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Splice_Site	SNP	ENST00000265069.8	37	c.1979_splice	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339411	0.81911	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFR	32431021	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	7.625000	0.83145	2.826000	0.97356	0.655000	0.94253	.		PASS	0.403	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		Intron	69	215	69	215	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35867558	35867558	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:35867558C>A	ENST00000303115.3	+	3	501	c.372C>A	c.(370-372)acC>acA	p.T124T	IL7R_ENST00000343305.4_Silent_p.T124T|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Silent_p.T124T|IL7R_ENST00000511982.1_Silent_p.T124T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	124					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.T124T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TAGACCTAACCACTATAGGTA	0.343			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2				Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(370-372)ACC>ACA		interleukin 7 receptor precursor							71.0	72.0	72.0					5																	35867558		2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35867558C>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.372C>A	5.37:g.35867558C>A						IL7R_uc011coo.1_Silent_p.T124T|IL7R_uc011cop.1_RNA	p.T124T	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		3	461	+	all_lung(31;0.00015)		124			Extracellular (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.372C>A	CCDS3911.1																																																																																				PASS	0.343	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			24	86	24	86	---	---	---	---
C9	735	broad.mit.edu	37	5	39306792	39306792	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:39306792G>T	ENST00000263408.4	-	9	1438	c.1343C>A	c.(1342-1344)aCc>aAc	p.T448N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	448	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.T448K(1)|p.T448N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATCAATCACGGTTCCTCGGAG	0.383																																						uc003jlv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1342-1344)ACC>AAC		complement component 9 precursor							149.0	126.0	134.0					5																	39306792		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39306792G>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1343C>A	5.37:g.39306792G>T	ENSP00000263408:p.Thr448Asn						p.T448N	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		9	1432	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	448			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.1343C>A	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.264273	0.01433	.	.	ENSG00000113600	ENST00000263408	T	0.29142	1.58	4.98	-2.9	0.05648	Membrane attack complex component/perforin (MACPF) domain (3);	1.078350	0.07019	N	0.826405	T	0.13628	0.0330	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.27905	-1.0060	10	0.15499	T	0.54	0.3968	3.0645	0.06210	0.1336:0.3944:0.1717:0.3002	.	448	P02748	CO9_HUMAN	N	448	ENSP00000263408:T448N	ENSP00000263408:T448N	T	-	2	0	C9	39342549	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.264000	0.08658	-0.915000	0.03823	-1.098000	0.02139	ACC		PASS	0.383	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			32	153	32	153	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40852457	40852457	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:40852457G>T	ENST00000254691.5	+	3	1222	c.1023G>T	c.(1021-1023)agG>agT	p.R341S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	341					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.R341S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGACCGCTAGGGATTCAATCC	0.453																																						uc003jmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1021-1023)AGG>AGT		caspase recruitment domain family, member 6							60.0	58.0	58.0					5																	40852457		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852457G>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1023G>T	5.37:g.40852457G>T	ENSP00000254691:p.Arg341Ser						p.R341S	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1098	+			341					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1023G>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024352	0.35701	.	.	ENSG00000132357	ENST00000254691;ENST00000509771	T	0.31769	1.48	5.4	0.108	0.14548	.	0.000000	0.64402	D	0.000005	T	0.52025	0.1709	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.51395	-0.8711	10	0.87932	D	0	-22.9316	8.4348	0.32780	0.6737:0.0:0.3263:0.0	.	341	Q9BX69	CARD6_HUMAN	S	341	ENSP00000254691:R341S	ENSP00000254691:R341S	R	+	3	2	CARD6	40888214	0.990000	0.36364	0.836000	0.33094	0.010000	0.07245	0.475000	0.22164	-0.064000	0.13043	-0.290000	0.09829	AGG		PASS	0.453	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			14	50	14	50	---	---	---	---
C7	730	broad.mit.edu	37	5	40979897	40979897	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:40979897C>A	ENST00000313164.9	+	17	2595	c.2236C>A	c.(2236-2238)Cat>Aat	p.H746N	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	746	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|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.H746N(1)					Ovarian(839;0.0112)				TTGCAAGATGCATGTTCTCCA	0.453																																						uc003jmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2236-2238)CAT>AAT		complement component 7 precursor							82.0	83.0	83.0					5																	40979897		1977	4157	6134	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40979897C>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2236C>A	5.37:g.40979897C>A	ENSP00000322061:p.His746Asn					C7_uc011cpn.1_RNA	p.H746N	NM_000587	NP_000578	P10643	CO7_HUMAN			17	2350	+		Ovarian(839;0.0112)	746			Complement control factor I module 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2236C>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843901	0.71488	.	.	ENSG00000112936	ENST00000313164	T	0.63580	-0.05	5.8	5.8	0.92144	Factor I / membrane attack complex (1);	0.476929	0.24081	N	0.041737	T	0.73776	0.3630	L	0.58669	1.825	0.36045	D	0.840347	D	0.54601	0.967	D	0.65010	0.931	T	0.76900	-0.2788	10	0.40728	T	0.16	-15.2479	14.2473	0.65997	0.0:0.9267:0.0:0.0733	.	746	P10643	CO7_HUMAN	N	746	ENSP00000322061:H746N	ENSP00000322061:H746N	H	+	1	0	C7	41015654	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.946000	0.29069	2.745000	0.94114	0.563000	0.77884	CAT		PASS	0.453	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			24	86	24	86	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41000864	41000864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:41000864C>T	ENST00000399564.4	-	38	4716	c.4266G>A	c.(4264-4266)tgG>tgA	p.W1422*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.W977*	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1422								p.W1422*(1)									AAAAAATCTTCCACCTTCTTC	0.453																																						uc003jmj.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(4264-4266)TGG>TGA		HEAT repeat family member 7B2							67.0	66.0	66.0					5																	41000864		1915	4150	6065	SO:0001587	stop_gained	133558						binding	g.chr5:41000864C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4266G>A	5.37:g.41000864C>T	ENSP00000382476:p.Trp1422*					HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.W977*	p.W1422*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			38	4756	-			1422					Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.4266G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	43	10.139895	0.99345	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	5.66	4.78	0.61160	.	0.531595	0.18128	N	0.150834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.8652	0.41138	0.0:0.9091:0.0:0.0909	.	.	.	.	X	977;1127;1422	.	ENSP00000296803:W1127X	W	-	3	0	HEATR7B2	41036621	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.405000	0.44548	2.840000	0.97914	0.655000	0.94253	TGG		PASS	0.453	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	33	7	33	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41019017	41019017	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:41019017C>A	ENST00000399564.4	-	25	2995	c.2545G>T	c.(2545-2547)Ggc>Tgc	p.G849C	MROH2B_ENST00000506092.2_Missense_Mutation_p.G404C	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	849								p.G849C(1)									TCTGTCTGGCCTTCACTTTTC	0.502																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(2545-2547)GGC>TGC		HEAT repeat family member 7B2							111.0	107.0	109.0					5																	41019017		2010	4180	6190	SO:0001583	missense	133558						binding	g.chr5:41019017C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2545G>T	5.37:g.41019017C>A	ENSP00000382476:p.Gly849Cys					HEATR7B2_uc003jmi.3_Missense_Mutation_p.G404C	p.G849C	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			25	3035	-			849					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2545G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012538	0.75161	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.01538	4.79;5.03	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.64402	D	0.000012	T	0.04003	0.0112	N	0.08118	0	0.40217	D	0.977695	D	0.89917	1.0	D	0.77557	0.99	T	0.63269	-0.6675	10	0.66056	D	0.02	.	16.0408	0.80680	0.0:1.0:0.0:0.0	.	849	Q7Z745	HTRB2_HUMAN	C	404;554;849	ENSP00000441504:G404C;ENSP00000382476:G849C	ENSP00000296803:G554C	G	-	1	0	HEATR7B2	41054774	0.847000	0.29606	0.492000	0.27490	0.893000	0.52053	3.817000	0.55668	2.865000	0.98341	0.655000	0.94253	GGC		PASS	0.502	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		24	64	24	64	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41057275	41057275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:41057275G>T	ENST00000399564.4	-	9	1305	c.855C>A	c.(853-855)tgC>tgA	p.C285*	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	285								p.C285*(1)									CTGGAGCTCTGCAGATCTGAA	0.413																																						uc003jmj.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(853-855)TGC>TGA		HEAT repeat family member 7B2							66.0	62.0	63.0					5																	41057275		1832	4097	5929	SO:0001587	stop_gained	133558						binding	g.chr5:41057275G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.855C>A	5.37:g.41057275G>T	ENSP00000382476:p.Cys285*					HEATR7B2_uc003jmi.3_Intron	p.C285*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			9	1345	-			285			HEAT 3.		Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.855C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	39	7.826374	0.98510	.	.	ENSG00000171495	ENST00000399564	.	.	.	5.1	3.31	0.37934	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1568	0.25643	0.1921:0.0:0.8079:0.0	.	.	.	.	X	285	.	ENSP00000382476:C285X	C	-	3	2	HEATR7B2	41093032	0.952000	0.32445	1.000000	0.80357	0.615000	0.37417	1.248000	0.32827	1.525000	0.49052	0.561000	0.74099	TGC		PASS	0.413	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		13	59	13	59	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45353210	45353210	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:45353210G>T	ENST00000303230.4	-	5	1426	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.L457M(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCTCTCTCAGAGGATCATTG	0.348																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1369-1371)CTG>ATG		hyperpolarization activated cyclic							112.0	103.0	106.0					5																	45353210		2202	4296	6498	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45353210G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1369C>A	5.37:g.45353210G>T	ENSP00000307342:p.Leu457Met						p.L457M	NM_021072	NP_066550	O60741	HCN1_HUMAN			5	1394	-			457			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1369C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713474	0.68730	.	.	ENSG00000164588	ENST00000303230	D	0.97959	-4.63	5.97	5.1	0.69264	Cyclic nucleotide-binding-like (1);	0.000000	0.51477	D	0.000093	D	0.98134	0.9384	M	0.79343	2.45	0.54753	D	0.999988	D	0.62365	0.991	P	0.61070	0.883	D	0.98512	1.0619	10	0.87932	D	0	.	11.1144	0.48252	0.1403:0.0:0.8597:0.0	.	457	O60741	HCN1_HUMAN	M	457	ENSP00000307342:L457M	ENSP00000307342:L457M	L	-	1	2	HCN1	45388967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.787000	0.75099	1.529000	0.49120	0.655000	0.94253	CTG		PASS	0.348	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		32	118	32	118	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86633842	86633842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:86633842G>A	ENST00000274376.6	+	5	1515	c.951G>A	c.(949-951)tgG>tgA	p.W317*	RASA1_ENST00000506290.1_Nonsense_Mutation_p.W151*|RASA1_ENST00000456692.2_Nonsense_Mutation_p.W140*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.W150*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	317	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.W140*(1)|p.W317*(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGATGGATGGATGTGGGTTA	0.279																																						uc003kiw.2																			2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5	GRCh37	CI084311	RASA1	I		c.(949-951)TGG>TGA		RAS p21 protein activator 1 isoform 1							111.0	118.0	115.0					5																	86633842		2203	4297	6500	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86633842G>A		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.951G>A	5.37:g.86633842G>A	ENSP00000274376:p.Trp317*					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.W140*|RASA1_uc011ctv.1_Nonsense_Mutation_p.W150*|RASA1_uc011ctw.1_Nonsense_Mutation_p.W151*|RASA1_uc010jaw.2_Nonsense_Mutation_p.W140*	p.W317*	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	5	1069	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	317			SH3.		B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.951G>A	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	45	11.475893	0.99566	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9024	0.96993	0.0:0.0:1.0:0.0	.	.	.	.	X	317;350;140;150;151	.	ENSP00000274376:W317X	W	+	3	0	RASA1	86669598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.576000	0.98192	2.775000	0.95449	0.650000	0.86243	TGG		PASS	0.279	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		39	101	39	101	---	---	---	---
SNX24	28966	broad.mit.edu	37	5	122337129	122337129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:122337129C>A	ENST00000261369.4	+	5	559	c.374C>A	c.(373-375)tCa>tAa	p.S125*	SNX24_ENST00000395451.4_Nonsense_Mutation_p.S158*|SNX24_ENST00000506996.1_Nonsense_Mutation_p.S125*|SNX24_ENST00000513881.1_Nonsense_Mutation_p.S125*	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	125	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.S125*(1)		lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		TCTGAAGAGTCAAGGTAAGGA	0.328																																						uc011cwo.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(373-375)TCA>TAA		SBBI31 protein							97.0	100.0	99.0					5																	122337129		2203	4300	6503	SO:0001587	stop_gained	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122337129C>A	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.374C>A	5.37:g.122337129C>A	ENSP00000261369:p.Ser125*					SNX24_uc003ktf.2_Nonsense_Mutation_p.S125*|SNX24_uc010jcy.2_Nonsense_Mutation_p.S125*	p.S125*	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	5	543	+		Prostate(80;0.0387)	125			PX.		Q6UY33	Nonsense_Mutation	SNP	ENST00000261369.4	37	c.374C>A	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847194	0.91277	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	.	.	.	5.87	5.87	0.94306	.	0.056306	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4359	18.7629	0.91860	0.0:1.0:0.0:0.0	.	.	.	.	X	125;125;158;125	.	ENSP00000261369:S125X	S	+	2	0	SNX24	122365028	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.942000	0.63547	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.328	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		17	59	17	59	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130834235	130834235	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:130834235T>C	ENST00000509018.1	-	12	1525	c.1320A>G	c.(1318-1320)atA>atG	p.I440M	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.I440M|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.I490M|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.I440M|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.I155M|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.I440M|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.I440M|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.I440M	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	440	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.I440M(3)|p.I490M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GAAAATCTTCTATATAAGTTG	0.348																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1																			4	Substitution - Missense(4)		lung(4)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1318-1320)ATA>ATG		PDZ domain-containing guanine nucleotide							74.0	79.0	77.0					5																	130834235		2203	4299	6502	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130834235T>C	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1320A>G	5.37:g.130834235T>C	ENSP00000421684:p.Ile440Met					RAPGEF6_uc003kvp.1_Missense_Mutation_p.I490M|RAPGEF6_uc003kvo.1_Missense_Mutation_p.I440M|RAPGEF6_uc010jdi.1_Missense_Mutation_p.I440M|RAPGEF6_uc010jdj.1_Missense_Mutation_p.I440M|RAPGEF6_uc003kvq.2_Missense_Mutation_p.I157M|RAPGEF6_uc003kvr.2_Missense_Mutation_p.I440M|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.I440M	p.I440M	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	12	1526	-			440			N-terminal Ras-GEF.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1320A>G	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146637	0.57044	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.46	4.24	0.50183	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.61476	0.2350	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D;D	0.64830	0.994;0.99;0.987;0.99;0.994;0.987;0.988	D;D;D;D;D;D;D	0.71414	0.965;0.951;0.936;0.948;0.965;0.913;0.973	T	0.61950	-0.6957	10	0.87932	D	0	.	6.8331	0.23921	0.2564:0.0:0.134:0.6096	.	440;440;440;155;490;440;440	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	M	440;440;440;440;440;155;440;440;490	ENSP00000421684:I440M;ENSP00000309298:I440M;ENSP00000426081:I440M;ENSP00000296859:I440M;ENSP00000426910:I155M;ENSP00000311419:I440M;ENSP00000425389:I440M;ENSP00000426948:I490M	ENSP00000426948:I490M	I	-	3	3	RAPGEF6;FNIP1	130862134	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.555000	0.23422	0.809000	0.34255	0.533000	0.62120	ATA		PASS	0.348	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		56	91	56	91	---	---	---	---
CAMLG	819	broad.mit.edu	37	5	134076787	134076787	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:134076787C>T	ENST00000297156.2	+	2	327	c.207C>T	c.(205-207)gaC>gaT	p.D69D	CAMLG_ENST00000514518.1_Intron	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	69					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D69D(1)		NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	AGCAGCAGGACAGTGATAAAC	0.423																																						uc003kzt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(205-207)GAC>GAT		calcium modulating ligand	Cyclosporine(DB00091)						78.0	77.0	77.0					5																	134076787		2203	4300	6503	SO:0001819	synonymous_variant	819				defense response	endoplasmic reticulum|integral to membrane		g.chr5:134076787C>T	AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"""calcium-modulating cyclophilin ligand"", ""calcium-signal modulating cyclophilin ligand"", ""cyclophilin B-binding protein"""	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.207C>T	5.37:g.134076787C>T						CAMLG_uc003kzu.2_Intron	p.D69D	NM_001745	NP_001736	P49069	CAMLG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	312	+			69			Cytoplasmic (Potential).		A1L3Y3	Silent	SNP	ENST00000297156.2	37	c.207C>T	CCDS4178.1																																																																																				PASS	0.423	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251161.1	NM_001745		35	65	35	65	---	---	---	---
HSPA9	3313	broad.mit.edu	37	5	137903390	137903390	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:137903390G>T	ENST00000297185.3	-	6	682	c.557C>A	c.(556-558)gCa>gAa	p.A186E	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	186					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.A186E(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCATTTTTTGCTGTGTGCCC	0.388																																						uc003ldf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)GCA>GAA		heat shock 70kDa protein 9 precursor							64.0	59.0	60.0					5																	137903390		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137903390G>T	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.557C>A	5.37:g.137903390G>T	ENSP00000297185:p.Ala186Glu					HSPA9_uc011cyw.1_Missense_Mutation_p.A117E	p.A186E	NM_004134	NP_004125	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	665	-			186					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.557C>A	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744687	0.89663	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.01005	5.45	5.22	5.22	0.72569	.	0.109197	0.64402	D	0.000007	T	0.02649	0.0080	L	0.32530	0.975	0.58432	D	0.999996	P;P	0.39131	0.6;0.661	P;P	0.52598	0.703;0.653	T	0.64322	-0.6435	10	0.87932	D	0	-14.4224	18.7585	0.91840	0.0:0.0:1.0:0.0	.	117;186	B7Z1V7;P38646	.;GRP75_HUMAN	E	186;139;172	ENSP00000297185:A186E	ENSP00000297185:A186E	A	-	2	0	HSPA9	137931289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.932000	0.70121	2.590000	0.87494	0.655000	0.94253	GCA		PASS	0.388	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		3	56	3	56	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140187880	140187880	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:140187880G>T	ENST00000530339.1	+	1	1108	c.1108G>T	c.(1108-1110)Gcc>Tcc	p.A370S	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A370S|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A370S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A370S(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGTCATCGCCCTGATCAG	0.493																																						uc003lhi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1108-1110)GCC>TCC		protocadherin alpha 4 isoform 1 precursor							97.0	94.0	95.0					5																	140187880		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140187880G>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1108G>T	5.37:g.140187880G>T	ENSP00000435300:p.Ala370Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A370S|PCDHA4_uc011daa.1_Missense_Mutation_p.A370S	p.A370S	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1209	+			370			Cadherin 4.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1108G>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	13.71	2.318526	0.40996	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.53423	0.62;0.62;0.62	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.000000	0.40302	U	0.001121	T	0.70736	0.3258	M	0.83012	2.62	0.28031	N	0.934113	D;D;D	0.65815	0.962;0.992;0.995	P;D;D	0.65684	0.702;0.937;0.937	T	0.69094	-0.5236	10	0.87932	D	0	.	18.0295	0.89278	0.0:0.0:1.0:0.0	.	370;370;370	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	S	370	ENSP00000423470:A370S;ENSP00000349344:A370S;ENSP00000435300:A370S	ENSP00000349344:A370S	A	+	1	0	PCDHA4	140168064	1.000000	0.71417	0.553000	0.28255	0.264000	0.26372	4.379000	0.59575	2.341000	0.79615	0.591000	0.81541	GCC		PASS	0.493	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		41	88	41	88	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140563000	140563000	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:140563000G>T	ENST00000361016.2	+	1	2021	c.866G>T	c.(865-867)aGt>aTt	p.S289I		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.S289I(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)			GAGGATATTAGTAAAACTTTG	0.468																																						uc003liv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(865-867)AGT>ATT		protocadherin beta 16 precursor							67.0	73.0	71.0					5																	140563000		2203	4300	6503	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.chr5:140563000G>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.866G>T	5.37:g.140563000G>T	ENSP00000354293:p.Ser289Ile					PCDHB16_uc010jfw.1_Intron	p.S289I	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2021	+			289			Extracellular (Potential).|Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.866G>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	G	1.225	-0.625800	0.03610	.	.	ENSG00000196963	ENST00000361016	T	0.03124	4.04	4.75	2.96	0.34315	Cadherin (4);Cadherin-like (1);	0.182934	0.26642	N	0.023246	T	0.05547	0.0146	M	0.63843	1.955	0.09310	N	1	B	0.34399	0.452	B	0.39299	0.296	T	0.29274	-1.0017	10	0.33940	T	0.23	.	5.1381	0.14945	0.26:0.2726:0.4673:0.0	.	289	Q9NRJ7	PCDBG_HUMAN	I	289	ENSP00000354293:S289I	ENSP00000354293:S289I	S	+	2	0	PCDHB16	140543184	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.021000	0.13489	0.425000	0.26087	0.591000	0.81541	AGT		PASS	0.468	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		38	111	38	111	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140603567	140603567	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:140603567A>T	ENST00000239449.4	+	1	490	c.490A>T	c.(490-492)Agc>Tgc	p.S164C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S11C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	164	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.S164C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATGTCGGAAGCAACAGTCT	0.403																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(490-492)AGC>TGC		protocadherin beta 14 precursor							77.0	79.0	79.0					5																	140603567		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603567A>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.490A>T	5.37:g.140603567A>T	ENSP00000239449:p.Ser164Cys					PCDHB14_uc011dal.1_Missense_Mutation_p.S11C	p.S164C	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	490	+			164			Cadherin 2.|Extracellular (Potential).		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.490A>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	15.02	2.708063	0.48412	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.53206	0.63;0.63	5.02	3.78	0.43462	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72630	0.3484	H	0.96633	3.855	0.23487	N	0.997571	D	0.65815	0.995	P	0.55545	0.778	T	0.68213	-0.5468	9	0.59425	D	0.04	.	11.3821	0.49763	0.8498:0.1502:0.0:0.0	.	164	Q9Y5E9	PCDBE_HUMAN	C	11;164	ENSP00000444518:S11C;ENSP00000239449:S164C	ENSP00000239449:S164C	S	+	1	0	PCDHB14	140583751	0.000000	0.05858	0.873000	0.34254	0.870000	0.49936	0.300000	0.19156	2.016000	0.59253	0.528000	0.53228	AGC		PASS	0.403	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		47	98	47	98	---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140763975	140763975	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:140763975C>A	ENST00000518325.1	+	1	1509	c.1509C>A	c.(1507-1509)tcC>tcA	p.S503S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S503S(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGTCCTCCTATGTCTCCA	0.488																																						uc003lka.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1507-1509)TCC>TCA		protocadherin gamma subfamily A, 7 isoform 1							44.0	48.0	46.0					5																	140763975		1979	4186	6165	SO:0001819	synonymous_variant	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763975C>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1509C>A	5.37:g.140763975C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.S503S	p.S503S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1509	+			503			Extracellular (Potential).|Cadherin 5.		B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.1509C>A	CCDS54927.1																																																																																				PASS	0.488	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		24	45	24	45	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153030074	153030074	+	Splice_Site	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:153030074G>T	ENST00000285900.5	+	4	988	c.645G>T	c.(643-645)caG>caT	p.Q215H	GRIA1_ENST00000340592.5_Splice_Site_p.Q215H|GRIA1_ENST00000518142.1_Splice_Site_p.Q135H|GRIA1_ENST00000521843.2_Splice_Site_p.Q146H|GRIA1_ENST00000448073.4_Splice_Site_p.Q225H|GRIA1_ENST00000518783.1_Splice_Site_p.Q225H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	215					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.Q215H(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCTTGGGCCAGGTAGTGAAAG	0.522																																						uc003lva.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(643-645)CAG>CAT		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						68.0	61.0	63.0					5																	153030074		2203	4300	6503	SO:0001630	splice_region_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153030074G>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.645+1G>T	5.37:g.153030074G>T						GRIA1_uc003luy.3_Missense_Mutation_p.Q215H|GRIA1_uc003luz.3_Missense_Mutation_p.Q120H|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.Q135H|GRIA1_uc011dcx.1_Missense_Mutation_p.Q146H|GRIA1_uc011dcy.1_Missense_Mutation_p.Q225H|GRIA1_uc011dcz.1_Missense_Mutation_p.Q225H|GRIA1_uc010jia.1_Missense_Mutation_p.Q195H	p.Q215H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	1010	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	215			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.645G>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808677	0.50421	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.6	3.81	0.43845	Extracellular ligand-binding receptor (1);	0.158994	0.56097	D	0.000032	D	0.84388	0.5461	L	0.52011	1.625	0.58432	D	0.99999	B;B;B;B;B;B	0.32653	0.285;0.285;0.379;0.285;0.081;0.035	B;B;B;B;B;B	0.42995	0.118;0.118;0.404;0.118;0.044;0.024	T	0.82824	-0.0266	10	0.87932	D	0	.	10.5155	0.44887	0.0722:0.134:0.7938:0.0	.	225;225;135;225;215;215	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	215;215;135;169;215;146;146;225;225	ENSP00000285900:Q215H;ENSP00000427920:Q135H;ENSP00000339343:Q215H;ENSP00000427864:Q146H;ENSP00000442108:Q146H;ENSP00000428994:Q225H;ENSP00000415569:Q225H	ENSP00000285900:Q215H	Q	+	3	2	GRIA1	153010267	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.082000	0.94059	0.720000	0.32209	0.650000	0.86243	CAG		PASS	0.522	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		Missense_Mutation	32	49	32	49	---	---	---	---
FNDC9	408263	broad.mit.edu	37	5	156770220	156770220	+	Missense_Mutation	SNP	G	G	T	rs140164881	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr5:156770220G>T	ENST00000312349.4	-	2	512	c.325C>A	c.(325-327)Ccc>Acc	p.P109T	CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000541131.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	109						integral component of membrane (GO:0016021)		p.P109T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GAGATCTGGGGGTCTACCAGG	0.572											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lwu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)CCC>ACC		hypothetical protein LOC408263							79.0	82.0	81.0					5																	156770220		2203	4300	6503	SO:0001583	missense	408263					integral to membrane		g.chr5:156770220G>T	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.325C>A	5.37:g.156770220G>T	ENSP00000310594:p.Pro109Thr		OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	p.P109T	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	513	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	109					A8K0Y6	Missense_Mutation	SNP	ENST00000312349.4	37	c.325C>A	CCDS4337.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177363	0.38413	.	.	ENSG00000172568	ENST00000312349;ENST00000520782	T;T	0.22134	1.97;2.0	4.98	4.98	0.66077	.	0.177480	0.36740	N	0.002424	T	0.12220	0.0297	N	0.12182	0.205	0.33215	D	0.553938	P	0.42518	0.782	B	0.37650	0.255	T	0.12837	-1.0532	10	0.48119	T	0.1	-18.026	12.2704	0.54702	0.0:0.0:0.8312:0.1688	.	109	Q8TBE3	FNDC9_HUMAN	T	109	ENSP00000310594:P109T;ENSP00000429434:P109T	ENSP00000310594:P109T	P	-	1	0	FNDC9	156702798	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.476000	0.35420	2.312000	0.78011	0.491000	0.48974	CCC		PASS	0.572	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		24	98	24	98	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7584884	7584884	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:7584884G>T	ENST00000379802.3	+	24	7730	c.7389G>T	c.(7387-7389)aaG>aaT	p.K2463N	DSP_ENST00000418664.2_Missense_Mutation_p.K1864N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2463	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K2463N(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCCTCAGGAAGCGTAGAGTGG	0.418																																						uc003mxp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(7387-7389)AAG>AAT		desmoplakin isoform I							115.0	121.0	119.0					6																	7584884		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584884G>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7389G>T	6.37:g.7584884G>T	ENSP00000369129:p.Lys2463Asn					DSP_uc003mxq.1_Missense_Mutation_p.K1864N	p.K2463N	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7668	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2463			Plectin 12.|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.7389G>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794309	0.50102	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.73469	-0.75;-0.75	5.7	4.73	0.59995	.	0.000000	0.64402	D	0.000003	T	0.77725	0.4173	M	0.73962	2.25	0.25907	N	0.983283	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69702	-0.5074	10	0.49607	T	0.09	.	7.5692	0.27898	0.2444:0.0:0.7556:0.0	.	1911;2463	Q4LE79;P15924	.;DESP_HUMAN	N	2463;1864	ENSP00000369129:K2463N;ENSP00000396591:K1864N	ENSP00000369129:K2463N	K	+	3	2	DSP	7529883	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.417000	0.44653	2.688000	0.91661	0.655000	0.94253	AAG		PASS	0.418	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		73	118	73	118	---	---	---	---
GMNN	51053	broad.mit.edu	37	6	24786002	24786002	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:24786002C>T	ENST00000230056.3	+	7	937	c.605C>T	c.(604-606)tCt>tTt	p.S202F	GMNN_ENST00000356509.3_Missense_Mutation_p.S202F	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	202					mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)	p.S202F(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						GTATCTTCCTCTACGGATGCA	0.388																																						uc003nem.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(604-606)TCT>TTT		geminin							128.0	131.0	130.0					6																	24786002		2203	4300	6503	SO:0001583	missense	51053				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding	g.chr6:24786002C>T	AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.605C>T	6.37:g.24786002C>T	ENSP00000230056:p.Ser202Phe					GMNN_uc003nen.2_Missense_Mutation_p.S202F	p.S202F	NM_015895	NP_056979	O75496	GEMI_HUMAN			7	812	+			202					B3KMM8|Q9H1Z1	Missense_Mutation	SNP	ENST00000230056.3	37	c.605C>T	CCDS4560.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367179	0.61513	.	.	ENSG00000112312	ENST00000356509;ENST00000230056	T;T	0.13307	2.6;2.6	5.93	4.07	0.47477	.	0.778909	0.12426	N	0.469962	T	0.05960	0.0155	M	0.62723	1.935	0.09310	N	1	B	0.26120	0.142	B	0.17433	0.018	T	0.24512	-1.0158	10	0.66056	D	0.02	-13.8609	6.7963	0.23727	0.1744:0.7389:0.0:0.0867	.	202	O75496	GEMI_HUMAN	F	202	ENSP00000348902:S202F;ENSP00000230056:S202F	ENSP00000230056:S202F	S	+	2	0	GMNN	24893981	0.006000	0.16342	0.861000	0.33841	0.809000	0.45718	0.637000	0.24659	1.535000	0.49220	0.655000	0.94253	TCT		PASS	0.388	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895		93	169	93	169	---	---	---	---
HIST1H3D	8351	broad.mit.edu	37	6	26197080	26197080	+	Silent	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:26197080C>G	ENST00000356476.2	-	1	398	c.399G>C	c.(397-399)ggG>ggC	p.G133G	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Silent_p.G133G			P68431	H31_HUMAN	histone cluster 1, H3d	133					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.G133G(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				ACGCCCTCTCCCCACGAATGC	0.502																																					GBM(108;3816 4467)	uc003ngv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(397-399)GGG>GGC		histone cluster 1, H3d							96.0	91.0	93.0					6																	26197080		2203	4300	6503	SO:0001819	synonymous_variant	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197080C>G	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.399G>C	6.37:g.26197080C>G						HIST1H2BF_uc003ngx.2_5'Flank	p.G133G	NM_003530	NP_003521	P68431	H31_HUMAN			2	796	-		all_hematologic(11;0.196)	133					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000356476.2	37	c.399G>C	CCDS4590.1																																																																																				PASS	0.502	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		7	110	7	110	---	---	---	---
HIST1H2AL	8332	broad.mit.edu	37	6	27833365	27833365	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:27833365G>T	ENST00000357320.2	+	1	332	c.233G>T	c.(232-234)cGc>cTc	p.R78L		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	78						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R78L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						AAGAAGACCCGCATTATCCCG	0.662																																						uc003njw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CGC>CTC		histone cluster 1, H2al							103.0	106.0	105.0					6																	27833365		2203	4300	6503	SO:0001583	missense	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833365G>T	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.233G>T	6.37:g.27833365G>T	ENSP00000349873:p.Arg78Leu						p.R78L	NM_003511	NP_003502	P0C0S8	H2A1_HUMAN			1	259	+			78					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000357320.2	37	c.233G>T	CCDS4634.1	.	.	.	.	.	.	.	.	.	.	.	19.25	3.790469	0.70337	.	.	ENSG00000198374	ENST00000357320	T	0.69306	-0.39	4.57	4.57	0.56435	.	0.000000	0.31472	U	0.007587	T	0.71264	0.3319	.	.	.	0.33289	D	0.563243	.	.	.	.	.	.	T	0.76049	-0.3101	7	0.72032	D	0.01	.	16.7188	0.85405	0.0:0.0:1.0:0.0	.	.	.	.	L	78	ENSP00000349873:R78L	ENSP00000349873:R78L	R	+	2	0	HIST1H2AL	27941344	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.120000	0.64685	2.263000	0.75096	0.563000	0.77884	CGC		PASS	0.662	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		84	151	84	151	---	---	---	---
SLC44A4	80736	broad.mit.edu	37	6	31833676	31833676	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:31833676T>G	ENST00000229729.6	-	14	1481	c.1461A>C	c.(1459-1461)ttA>ttC	p.L487F	SLC44A4_ENST00000375562.4_Missense_Mutation_p.L445F|SLC44A4_ENST00000544672.1_Missense_Mutation_p.L411F|NEU1_ENST00000375631.4_5'Flank	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	487					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L487F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGGCAGAGATTAAGGGGAAGG	0.612																																						uc010jti.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(1459-1461)TTA>TTC		choline transporter-like protein 4	Choline(DB00122)						60.0	60.0	60.0					6																	31833676		2203	4300	6503	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31833676T>G	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1461A>C	6.37:g.31833676T>G	ENSP00000229729:p.Leu487Phe					NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	p.L487F	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			14	1527	-			487			Cytoplasmic (Potential).		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.1461A>C	CCDS4724.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.07|13.07	2.126574|2.126574	0.37533|0.37533	.|.	.|.	ENSG00000204385|ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672|ENST00000414427	T;T;T|.	0.25912|.	1.77;1.77;1.77|.	5.21|5.21	4.3|4.3	0.51218|0.51218	.|.	0.183482|.	0.36628|.	N|.	0.002493|.	T|.	0.67078|.	0.2855|.	M|M	0.81682|0.81682	2.555|2.555	0.45427|0.45427	D|D	0.998408|0.998408	D|.	0.71674|.	0.998|.	D|.	0.79784|.	0.993|.	T|.	0.70644|.	-0.4815|.	10|.	0.87932|.	D|.	0|.	-5.4476|-5.4476	12.7031|12.7031	0.57045|0.57045	0.0:0.9184:0.0:0.0816|0.0:0.9184:0.0:0.0816	.|.	487|.	Q53GD3|.	CTL4_HUMAN|.	F|S	487;445;411|371	ENSP00000229729:L487F;ENSP00000364712:L445F;ENSP00000444109:L411F|.	ENSP00000229729:L487F|.	L|X	-|-	3|2	2|2	SLC44A4|SLC44A4	31941655|31941655	0.017000|0.017000	0.18338|0.18338	0.687000|0.687000	0.30102|0.30102	0.601000|0.601000	0.36947|0.36947	0.219000|0.219000	0.17641|0.17641	1.413000|1.413000	0.46997|0.46997	-0.177000|-0.177000	0.13119|0.13119	TTA|TAA		PASS	0.612	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			61	83	61	83	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32064567	32064567	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:32064567C>T	ENST00000479795.1	-	3	1203	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	TNXB_ENST00000375247.2_Missense_Mutation_p.G355S|TNXB_ENST00000375244.3_Missense_Mutation_p.G355S			P22105	TENX_HUMAN	tenascin XB	355	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.G355S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACGCAGCGGCCGTCCACGCAG	0.731																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1063-1065)GGC>AGC		tenascin XB isoform 1 precursor							8.0	10.0	9.0					6																	32064567		2084	4150	6234	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32064567C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.1063G>A	6.37:g.32064567C>T	ENSP00000418248:p.Gly355Ser						p.G355S	NM_019105	NP_061978	P22105	TENX_HUMAN			3	1265	-			355			EGF-like 7.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.1063G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.090551	0.94149	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.14022	2.54;2.54;2.54	4.58	4.58	0.56647	.	0.000000	0.47093	D	0.000248	T	0.28896	0.0717	M	0.73430	2.235	0.49582	D	0.999808	D	0.89917	1.0	D	0.91635	0.999	T	0.07139	-1.0788	10	0.87932	D	0	.	14.864	0.70401	0.0:1.0:0.0:0.0	.	355	P22105-3	.	S	355	ENSP00000364393:G355S;ENSP00000364396:G355S;ENSP00000418248:G355S	ENSP00000364393:G355S	G	-	1	0	TNXB	32172545	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	3.849000	0.55910	2.079000	0.62486	0.467000	0.42956	GGC		PASS	0.731	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		2	1	2	1	---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34004071	34004071	+	Missense_Mutation	SNP	C	C	A	rs373035413		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:34004071C>A	ENST00000538487.2	-	9	2259	c.1816G>T	c.(1816-1818)Gtg>Ttg	p.V606L	GRM4_ENST00000374177.3_Missense_Mutation_p.V490L|GRM4_ENST00000544773.2_Missense_Mutation_p.V437L|GRM4_ENST00000374181.4_Missense_Mutation_p.V606L|GRM4_ENST00000609222.1_Missense_Mutation_p.V473L|GRM4_ENST00000535756.1_Missense_Mutation_p.V473L|GRM4_ENST00000455714.2_Missense_Mutation_p.V466L|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	606					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.V606L(2)|p.V490L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AAGGTGATCACCACGAACAAC	0.637																																						uc003oir.3																			3	Substitution - Missense(3)		lung(3)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1816-1818)GTG>TTG		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						82.0	69.0	74.0					6																	34004071		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004071C>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1816G>T	6.37:g.34004071C>A	ENSP00000440556:p.Val606Leu					GRM4_uc011dsn.1_Missense_Mutation_p.V559L|GRM4_uc010jvh.2_Missense_Mutation_p.V606L|GRM4_uc010jvi.2_Missense_Mutation_p.V298L|GRM4_uc003oio.2_Missense_Mutation_p.V298L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.V466L|GRM4_uc003oiq.2_Missense_Mutation_p.V473L|GRM4_uc011dsm.1_Missense_Mutation_p.V437L	p.V606L	NM_000841	NP_000832	Q14833	GRM4_HUMAN			8	1986	-			606			Helical; Name=1; (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1816G>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581474	0.46006	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	4.81	3.94	0.45596	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	N	0.12887	0.27	0.50039	D	0.999846	B;B;D;D;B	0.69078	0.003;0.001;0.996;0.997;0.004	B;B;D;D;B	0.80764	0.017;0.006;0.987;0.994;0.02	T	0.76282	-0.3016	10	0.05436	T	0.98	.	12.996	0.58646	0.0:0.9204:0.0:0.0796	.	559;437;466;606;473	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	L	606;490;298;473;437;606;466	ENSP00000363296:V606L;ENSP00000363292:V490L;ENSP00000445533:V298L;ENSP00000437925:V473L;ENSP00000437730:V437L;ENSP00000440556:V606L;ENSP00000398456:V466L	ENSP00000363292:V490L	V	-	1	0	GRM4	34112049	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	2.614000	0.46359	1.245000	0.43885	0.448000	0.29417	GTG		PASS	0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			17	33	17	33	---	---	---	---
TMEM63B	55362	broad.mit.edu	37	6	44119705	44119705	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:44119705G>C	ENST00000259746.9	+	19	1979	c.1796G>C	c.(1795-1797)tGc>tCc	p.C599S	TMEM63B_ENST00000323267.6_Missense_Mutation_p.C599S			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	599					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.C599S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ATCCGGCTCTGCCTGGCGCGC	0.667											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003owr.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(1795-1797)TGC>TCC		transmembrane protein 63B							40.0	29.0	33.0					6																	44119705		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44119705G>C	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1796G>C	6.37:g.44119705G>C	ENSP00000259746:p.Cys599Ser		OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	TMEM63B_uc003ows.2_Missense_Mutation_p.C502S|TMEM63B_uc010jyz.2_RNA	p.C599S	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		19	1860	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		599					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.1796G>C	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.72|19.72	3.879950|3.879950	0.72294|0.72294	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000371893|ENST00000259746;ENST00000323267	.|T;T	.|0.28255	.|1.62;1.62	5.03|5.03	4.12|4.12	0.48240|0.48240	.|Domain of unknown function DUF221 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22205|0.22205	0.0535|0.0535	L|L	0.54323|0.54323	1.7|1.7	0.46701|0.46701	D|D	0.999166|0.999166	.|B	.|0.24317	.|0.101	.|B	.|0.33121	.|0.158	T|T	0.09707|0.09707	-1.0662|-1.0662	5|10	.|0.56958	.|D	.|0.05	.|.	14.0984|14.0984	0.65039|0.65039	0.0:0.0:0.8498:0.1502|0.0:0.0:0.8498:0.1502	.|.	.|599	.|Q5T3F8	.|TM63B_HUMAN	P|S	528|599	.|ENSP00000259746:C599S;ENSP00000327154:C599S	.|ENSP00000259746:C599S	A|C	+|+	1|2	0|0	TMEM63B|TMEM63B	44227683|44227683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.223000|5.223000	0.65283|0.65283	2.611000|2.611000	0.88343|0.88343	0.557000|0.557000	0.71058|0.71058	GCC|TGC		PASS	0.667	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		3	51	3	51	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50740556	50740556	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:50740556C>A	ENST00000008391.3	+	8	1566	c.1338C>A	c.(1336-1338)ggC>ggA	p.G446G		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.G446G(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TGAAAGAGGGCAAAACAGAAA	0.458																																						uc003paf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(1)	7						c.(1336-1338)GGC>GGA		transcription factor AP-2 beta-like 1							43.0	40.0	41.0					6																	50740556		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740556C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1338C>A	6.37:g.50740556C>A						TFAP2D_uc011dwt.1_RNA	p.G446G	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			8	1850	+	Lung NSC(77;0.0334)		446						Silent	SNP	ENST00000008391.3	37	c.1338C>A	CCDS4933.1																																																																																				PASS	0.458	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		12	34	12	34	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51882241	51882241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:51882241G>T	ENST00000371117.3	-	34	5842	c.5567C>A	c.(5566-5568)tCa>tAa	p.S1856*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1856*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1856					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.S1856*(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)					TGGAAACATTGACTCTGCCCA	0.502																																						uc003pah.1																			2	Substitution - Nonsense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(5566-5568)TCA>TAA		fibrocystin isoform 1							152.0	136.0	141.0					6																	51882241		2203	4300	6503	SO:0001587	stop_gained	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.chr6:51882241G>T	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.5567C>A	6.37:g.51882241G>T	ENSP00000360158:p.Ser1856*					PKHD1_uc003pai.2_Nonsense_Mutation_p.S1856*	p.S1856*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			34	5843	-	Lung NSC(77;0.0605)		1856			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.5567C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	45	11.653466	0.99587	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.48	5.48	0.80851	.	0.644464	0.15756	N	0.246186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	16.6061	0.84830	0.0:0.0:1.0:0.0	.	.	.	.	X	1856	.	ENSP00000341097:S1856X	S	-	2	0	PKHD1	51990200	0.940000	0.31905	0.139000	0.22197	0.051000	0.14879	4.282000	0.58971	2.727000	0.93392	0.655000	0.94253	TCA		PASS	0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		55	180	55	180	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55216069	55216069	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:55216069C>A	ENST00000340465.2	+	5	475	c.389C>A	c.(388-390)tCc>tAc	p.S130Y		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	130					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S130Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGGATGTGGTCCTGTTTGGAA	0.443																																						uc003pcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(388-390)TCC>TAC		GDNF family receptor alpha like precursor							244.0	212.0	223.0					6																	55216069		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216069C>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.389C>A	6.37:g.55216069C>A	ENSP00000343636:p.Ser130Tyr						p.S130Y	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	475	+	Lung NSC(77;0.0875)|Renal(3;0.122)		130			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.389C>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541820	0.65198	.	.	ENSG00000187871	ENST00000340465	T	0.33865	1.39	5.59	5.59	0.84812	.	0.060359	0.64402	D	0.000003	T	0.50034	0.1592	M	0.63843	1.955	0.37704	D	0.924333	D	0.89917	1.0	D	0.68621	0.959	T	0.51220	-0.8733	10	0.66056	D	0.02	-19.0169	16.9017	0.86115	0.0:0.8723:0.1277:0.0	.	130	Q6UXV0	GFRAL_HUMAN	Y	130	ENSP00000343636:S130Y	ENSP00000343636:S130Y	S	+	2	0	GFRAL	55324028	1.000000	0.71417	0.986000	0.45419	0.960000	0.62799	3.090000	0.50191	2.763000	0.94921	0.655000	0.94253	TCC		PASS	0.443	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		74	310	74	310	---	---	---	---
DST	667	broad.mit.edu	37	6	56434790	56434790	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:56434790C>A	ENST00000361203.3	-	50	13116	c.13109G>T	c.(13108-13110)tGt>tTt	p.C4370F	DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.C1958F|DST_ENST00000370788.2_Missense_Mutation_p.C2284F|DST_ENST00000370769.4_Missense_Mutation_p.C4372F|DST_ENST00000446842.2_Missense_Mutation_p.C4046F|DST_ENST00000370754.5_Missense_Mutation_p.C4550F|DST_ENST00000421834.2_Missense_Mutation_p.C2284F			Q03001	DYST_HUMAN	dystonin	4370					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.C4372F(1)|p.C1958F(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGTTCTTGACAAGAAGTTAC	0.299																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(7384-7386)TGT>TTT		dystonin isoform 2							61.0	57.0	58.0					6																	56434790		1813	4066	5879	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56434790C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13109G>T	6.37:g.56434790C>A	ENSP00000354508:p.Cys4370Phe					DST_uc003pcz.3_Missense_Mutation_p.C2284F|DST_uc011dxj.1_Missense_Mutation_p.C2313F|DST_uc011dxk.1_Missense_Mutation_p.C2324F|DST_uc003pcy.3_Missense_Mutation_p.C1958F	p.C2462F	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		48	7413	-	Lung NSC(77;0.103)		4370					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.7385G>T		.	.	.	.	.	.	.	.	.	.	C	16.72	3.202733	0.58234	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.66	5.66	0.87406	.	0.000000	0.53938	D	0.000055	T	0.56949	0.2020	M	0.73962	2.25	0.31059	N	0.714379	D;D;D;D;D	0.89917	0.998;0.999;1.0;0.995;0.998	D;D;D;D;D	0.97110	0.991;0.999;1.0;0.986;0.988	T	0.57780	-0.7752	9	0.56958	D	0.05	.	19.7534	0.96277	0.0:1.0:0.0:0.0	.	2284;4372;4550;4370;1958	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	F	1958;4550;4372;2284;4046;2284;4370	ENSP00000244364:C1958F;ENSP00000359790:C4550F;ENSP00000359805:C4372F;ENSP00000400883:C2284F;ENSP00000393645:C4046F;ENSP00000359824:C2284F;ENSP00000354508:C4370F	ENSP00000244364:C1958F	C	-	2	0	DST	56542749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.144000	0.71762	2.673000	0.90976	0.650000	0.86243	TGT		PASS	0.299	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		33	71	33	71	---	---	---	---
FAM135A	57579	broad.mit.edu	37	6	71238128	71238128	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:71238128C>G	ENST00000418814.2	+	16	4362	c.3748C>G	c.(3748-3750)Ctg>Gtg	p.L1250V	FAM135A_ENST00000505868.1_Missense_Mutation_p.L1250V|FAM135A_ENST00000370479.3_Missense_Mutation_p.L1037V|FAM135A_ENST00000505769.1_Missense_Mutation_p.L830V|FAM135A_ENST00000361499.3_Missense_Mutation_p.L1054V|FAM135A_ENST00000457062.2_Missense_Mutation_p.L1037V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1250								p.L1250V(1)|p.L1037V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGGAGTACATCTGATTGTCTG	0.388																																						uc003pfj.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(3748-3750)CTG>GTG		hypothetical protein LOC57579 isoform c							222.0	192.0	202.0					6																	71238128		2203	4300	6503	SO:0001583	missense	57579							g.chr6:71238128C>G	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3748C>G	6.37:g.71238128C>G	ENSP00000410768:p.Leu1250Val					FAM135A_uc003pfi.2_Missense_Mutation_p.L1054V|FAM135A_uc003pfh.2_Missense_Mutation_p.L1037V|FAM135A_uc003pfl.2_Missense_Mutation_p.L917V|FAM135A_uc003pfn.2_Missense_Mutation_p.L456V|FAM135A_uc003pfo.1_Missense_Mutation_p.L621V|FAM135A_uc010kan.1_Missense_Mutation_p.L29V	p.L1250V	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			14	3881	+			1250					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.3748C>G	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885325	0.72410	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.14	5.14	0.70334	Domain of unknown function DUF676, lipase-like (1);	0.121275	0.64402	D	0.000016	T	0.72898	0.3518	L	0.57130	1.785	0.80722	D	1	P;D;D;P;D	0.76494	0.689;0.999;0.999;0.675;0.999	P;D;D;P;D	0.91635	0.863;0.998;0.999;0.55;0.998	T	0.74003	-0.3804	10	0.56958	D	0.05	.	18.9733	0.92724	0.0:1.0:0.0:0.0	.	830;1250;1250;1054;1037	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	V	1250;1037;830;1037;1054;1250	ENSP00000410768:L1250V;ENSP00000359510:L1037V;ENSP00000423785:L830V;ENSP00000409201:L1037V;ENSP00000354913:L1054V;ENSP00000423307:L1250V	ENSP00000354913:L1054V	L	+	1	2	FAM135A	71294849	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	7.776000	0.85560	2.546000	0.85860	0.591000	0.81541	CTG		PASS	0.388	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		42	162	42	162	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75861915	75861915	+	Missense_Mutation	SNP	T	T	G	rs199692759		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:75861915T>G	ENST00000322507.8	-	19	4076	c.3767A>C	c.(3766-3768)cAc>cCc	p.H1256P	COL12A1_ENST00000483888.2_Missense_Mutation_p.H1256P|COL12A1_ENST00000345356.6_Missense_Mutation_p.H92P|COL12A1_ENST00000416123.2_Missense_Mutation_p.H1256P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1256	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.H1256P(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						CTTGTCTCTGTGTGCATTTAA	0.448																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(3766-3768)CAC>CCC		collagen, type XII, alpha 1 long isoform							84.0	79.0	80.0					6																	75861915		1946	4148	6094	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.chr6:75861915T>G	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.3767A>C	6.37:g.75861915T>G	ENSP00000325146:p.His1256Pro					COL12A1_uc003pht.2_Missense_Mutation_p.H92P	p.H1256P	NM_004370	NP_004361	Q99715	COCA1_HUMAN			19	3933	-			1256			VWFA 3.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.3767A>C	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216547	0.58452	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.98	4.79	0.61399	von Willebrand factor, type A (3);	0.138274	0.50627	D	0.000106	D	0.86768	0.6012	M	0.75085	2.285	0.41548	D	0.988551	P;D	0.63880	0.927;0.993	P;D	0.65573	0.847;0.936	D	0.87769	0.2604	10	0.54805	T	0.06	.	13.2934	0.60284	0.0:0.0:0.1321:0.8679	.	92;1256	Q99715-2;Q99715	.;COCA1_HUMAN	P	1256;1256;92;1256;1256	ENSP00000325146:H1256P;ENSP00000305147:H92P;ENSP00000412864:H1256P;ENSP00000421216:H1256P	ENSP00000325146:H1256P	H	-	2	0	COL12A1	75918635	1.000000	0.71417	0.969000	0.41365	0.575000	0.36095	7.698000	0.84413	1.041000	0.40125	0.528000	0.53228	CAC		PASS	0.448	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		21	107	21	107	---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84368748	84368748	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:84368748C>T	ENST00000439399.2	-	6	832	c.516G>A	c.(514-516)caG>caA	p.Q172Q	SNAP91_ENST00000195649.6_Silent_p.Q172Q|SNAP91_ENST00000437520.1_Silent_p.Q172Q|SNAP91_ENST00000520302.1_Silent_p.Q172Q|SNAP91_ENST00000521485.1_Silent_p.Q172Q|SNAP91_ENST00000428679.2_Silent_p.Q172Q|SNAP91_ENST00000369694.2_Silent_p.Q172Q|SNAP91_ENST00000521743.1_Silent_p.Q172Q|SNAP91_ENST00000520213.1_Silent_p.Q172Q	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	172					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.Q172Q(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CAATTTGTCCCTGTAGTATTG	0.363																																						uc011dze.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(514-516)CAG>CAA		synaptosomal-associated protein, 91kDa homolog							96.0	99.0	98.0					6																	84368748		1893	4103	5996	SO:0001819	synonymous_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84368748C>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.516G>A	6.37:g.84368748C>T						SNAP91_uc003pkb.2_Silent_p.Q137Q|SNAP91_uc003pkc.2_Silent_p.Q172Q|SNAP91_uc003pkd.2_Silent_p.Q172Q|SNAP91_uc003pka.2_Silent_p.Q172Q|SNAP91_uc011dzf.1_Silent_p.Q53Q	p.Q172Q	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	6	833	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	172					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	c.516G>A	CCDS47455.1																																																																																				PASS	0.363	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			14	15	14	15	---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91263279	91263279	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:91263279C>A	ENST00000369329.3	-	7	795	c.634G>T	c.(634-636)Gtc>Ttc	p.V212F	MAP3K7_ENST00000369332.3_Missense_Mutation_p.V212F|MAP3K7_ENST00000369327.3_Missense_Mutation_p.V212F|MAP3K7_ENST00000369320.1_5'Flank|MAP3K7_ENST00000369325.3_Missense_Mutation_p.V212F	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	212	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.V212F(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGCTGAAGACGTCACATTTT	0.378																																						uc003pnz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(634-636)GTC>TTC		mitogen-activated protein kinase kinase kinase 7							86.0	88.0	88.0					6																	91263279		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91263279C>A	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.634G>T	6.37:g.91263279C>A	ENSP00000358335:p.Val212Phe					MAP3K7_uc003poa.1_Missense_Mutation_p.V212F|MAP3K7_uc003pob.1_Missense_Mutation_p.V212F|MAP3K7_uc003poc.1_Missense_Mutation_p.V212F	p.V212F	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	7	796	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	212			Protein kinase.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.634G>T	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072127	0.93950	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.61	5.61	0.85477	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.126285	0.52532	D	0.000065	D	0.95862	0.8653	M	0.93016	3.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.992;0.996;1.0	D	0.96309	0.9227	10	0.87932	D	0	.	19.6349	0.95726	0.0:1.0:0.0:0.0	.	212;212;212;212	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	F	212;212;212;212;139	ENSP00000358338:V212F;ENSP00000358335:V212F;ENSP00000358331:V212F;ENSP00000358333:V212F	ENSP00000358331:V212F	V	-	1	0	MAP3K7	91320000	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.703000	0.84585	2.643000	0.89663	0.460000	0.39030	GTC		PASS	0.378	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		43	147	43	147	---	---	---	---
MMS22L	253714	broad.mit.edu	37	6	97597879	97597879	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:97597879T>C	ENST00000275053.4	-	24	3765	c.3500A>G	c.(3499-3501)tAt>tGt	p.Y1167C	MMS22L_ENST00000369251.2_Missense_Mutation_p.Y1127C	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1167					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.Y1167C(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCTCATACCATAATCCTGGAT	0.403																																						uc003ppb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3499-3501)TAT>TGT		hypothetical protein LOC253714							96.0	93.0	94.0					6																	97597879		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97597879T>C		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3500A>G	6.37:g.97597879T>C	ENSP00000275053:p.Tyr1167Cys					C6orf167_uc011eaf.1_Missense_Mutation_p.Y1127C	p.Y1167C	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	24	3766	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	1167					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.3500A>G	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616342	0.46736	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.37752	1.18;1.18	5.97	3.52	0.40303	.	0.249766	0.39759	N	0.001265	T	0.39886	0.1095	M	0.65975	2.015	0.32433	N	0.547814	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.964	T	0.44483	-0.9325	10	0.72032	D	0.01	-11.4442	7.8446	0.29419	0.1239:0.0667:0.0:0.8093	.	1127;1167	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	C	1167;1127	ENSP00000275053:Y1167C;ENSP00000358254:Y1127C	ENSP00000275053:Y1167C	Y	-	2	0	MMS22L	97704600	0.996000	0.38824	0.909000	0.35828	0.590000	0.36582	2.461000	0.45040	0.475000	0.27415	0.528000	0.53228	TAT		PASS	0.403	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		19	81	19	81	---	---	---	---
MMS22L	253714	broad.mit.edu	37	6	97715858	97715858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:97715858G>A	ENST00000275053.4	-	8	983	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	MMS22L_ENST00000506256.1_5'UTR|MMS22L_ENST00000369251.2_Nonsense_Mutation_p.Q240*	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	240					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.Q240*(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCATAAACTGATGACCATAT	0.303																																						uc003ppb.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(718-720)CAG>TAG		hypothetical protein LOC253714							73.0	69.0	70.0					6																	97715858		2203	4299	6502	SO:0001587	stop_gained	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97715858G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.718C>T	6.37:g.97715858G>A	ENSP00000275053:p.Gln240*					C6orf167_uc011eaf.1_Nonsense_Mutation_p.Q240*|C6orf167_uc010kcn.1_Nonsense_Mutation_p.Q14*|C6orf167_uc010kco.1_Nonsense_Mutation_p.Q14*|C6orf167_uc003ppc.2_Nonsense_Mutation_p.Q240*	p.Q240*	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	8	984	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	240					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Nonsense_Mutation	SNP	ENST00000275053.4	37	c.718C>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	37	6.050532	0.97236	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018	.	.	.	5.26	4.38	0.52667	.	0.067366	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-5.0291	10.2419	0.43316	0.0:0.277:0.5799:0.1431	.	.	.	.	X	240;240;166	.	ENSP00000275053:Q240X	Q	-	1	0	MMS22L	97822579	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.178000	0.50879	1.202000	0.43218	-0.283000	0.09986	CAG		PASS	0.303	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		14	50	14	50	---	---	---	---
DCBLD1	285761	broad.mit.edu	37	6	117866736	117866736	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:117866736G>A	ENST00000338728.5	+	14	1711	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	DCBLD1_ENST00000368503.4_Missense_Mutation_p.D332N|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D531N|DCBLD1_ENST00000534777.1_3'UTR|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	531					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.D531N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ACAAAAGTTAGATCTCATCAC	0.428																																						uc003pxs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1591-1593)GAT>AAT		discoidin, CUB and LCCL domain containing 1							161.0	145.0	151.0					6																	117866736		2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117866736G>A	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1591G>A	6.37:g.117866736G>A	ENSP00000342422:p.Asp531Asn					GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_3'UTR|DCBLD1_uc003pxt.1_Missense_Mutation_p.D186N	p.D531N	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	14	1716	+		all_cancers(87;0.171)	531			Cytoplasmic (Potential).		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.1591G>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.774539	0.90108	.	.	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000392504;ENST00000338728	D;T;D	0.94232	-3.38;1.04;-2.92	5.23	5.23	0.72850	.	0.128943	0.49916	D	0.000128	D	0.94588	0.8256	L	0.46157	1.445	0.35260	D	0.779507	D	0.76494	0.999	D	0.65443	0.935	D	0.95197	0.8313	10	0.87932	D	0	-29.0655	18.9955	0.92810	0.0:0.0:1.0:0.0	.	531	Q8N8Z6-2	.	N	531;332;186;531	ENSP00000296955:D531N;ENSP00000357489:D332N;ENSP00000342422:D531N	ENSP00000296955:D531N	D	+	1	0	DCBLD1	117973429	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.751000	0.68720	2.728000	0.93425	0.591000	0.81541	GAT		PASS	0.428	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		44	143	44	143	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132189172	132189172	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:132189172G>C	ENST00000360971.2	+	12	1199	c.1179G>C	c.(1177-1179)ttG>ttC	p.L393F		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	393	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.L341F(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCAAAGCCTTGCAGAGGGTTG	0.398																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)	4						c.(1177-1179)TTG>TTC		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						230.0	203.0	212.0					6																	132189172		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132189172G>C	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1179G>C	6.37:g.132189172G>C	ENSP00000354238:p.Leu393Phe					ENPP1_uc003qcy.2_Missense_Mutation_p.L23F	p.L393F	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	12	1199	+	Breast(56;0.0505)		393			Phosphodiesterase.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.1179G>C	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	13.49	2.254142	0.39896	.	.	ENSG00000197594	ENST00000360971	T	0.77358	-1.09	5.76	4.87	0.63330	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.151275	0.46145	D	0.000312	D	0.89574	0.6754	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90987	0.4832	10	0.87932	D	0	-11.7153	12.8556	0.57884	0.1442:0.0:0.8558:0.0	.	393;23	P22413;Q7Z3P5	ENPP1_HUMAN;.	F	393	ENSP00000354238:L393F	ENSP00000354238:L393F	L	+	3	2	ENPP1	132230865	1.000000	0.71417	0.998000	0.56505	0.123000	0.20343	1.407000	0.34657	2.882000	0.98803	0.655000	0.94253	TTG		PASS	0.398	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			38	161	38	161	---	---	---	---
TAAR1	134864	broad.mit.edu	37	6	132966668	132966668	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:132966668T>G	ENST00000275216.1	-	1	474	c.475A>C	c.(475-477)Atc>Ctc	p.I159L		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	159					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.I159L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TCCAGAAAGATCATTCCAAAT	0.393																																						uc003qdm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)ATC>CTC		trace amine associated receptor 1	Amphetamine(DB00182)						63.0	65.0	65.0					6																	132966668		2203	4299	6502	SO:0001583	missense	134864					plasma membrane		g.chr6:132966668T>G	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.475A>C	6.37:g.132966668T>G	ENSP00000275216:p.Ile159Leu						p.I159L	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	475	-	Breast(56;0.135)		159			Extracellular (Potential).		Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.475A>C	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304626	0.40795	.	.	ENSG00000146399	ENST00000275216	T	0.33438	1.41	5.93	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.172233	0.49916	D	0.000137	T	0.11452	0.0279	N	0.17872	0.535	0.32695	N	0.513656	P	0.40302	0.712	P	0.46275	0.51	T	0.09100	-1.0690	10	0.32370	T	0.25	-17.2472	8.1935	0.31383	0.0:0.2127:0.0:0.7873	.	159	Q96RJ0	TAAR1_HUMAN	L	159	ENSP00000275216:I159L	ENSP00000275216:I159L	I	-	1	0	TAAR1	133008361	0.995000	0.38212	1.000000	0.80357	0.866000	0.49608	0.518000	0.22847	1.066000	0.40716	0.454000	0.30748	ATC		PASS	0.393	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		29	112	29	112	---	---	---	---
VNN2	8875	broad.mit.edu	37	6	133065517	133065517	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:133065517G>T	ENST00000326499.6	-	7	1609	c.1485C>A	c.(1483-1485)acC>acA	p.T495T	VNN2_ENST00000525289.1_Silent_p.T274T|VNN2_ENST00000525270.1_Silent_p.T442T	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	495					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.T495T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTGAATTGCTGGTCCCACATG	0.393																																						uc003qdt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1483-1485)ACC>ACA		vanin 2 isoform 1 precursor							149.0	140.0	143.0					6																	133065517		2203	4300	6503	SO:0001819	synonymous_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133065517G>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1485C>A	6.37:g.133065517G>T						VNN2_uc003qds.2_Silent_p.T204T|VNN2_uc010kgb.2_Silent_p.T274T|VNN2_uc003qdv.2_Silent_p.T442T	p.T495T	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	7	1496	-			495					A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	c.1485C>A	CCDS5161.1																																																																																				PASS	0.393	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			23	143	23	143	---	---	---	---
IL20RA	53832	broad.mit.edu	37	6	137330606	137330606	+	Missense_Mutation	SNP	C	C	T	rs368638679		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:137330606C>T	ENST00000316649.5	-	4	662	c.427G>A	c.(427-429)Gca>Aca	p.A143T	IL20RA_ENST00000367748.1_Missense_Mutation_p.A32T|IL20RA_ENST00000541547.1_Missense_Mutation_p.A94T|IL20RA_ENST00000367746.3_Missense_Mutation_p.A143T|IL20RA_ENST00000468393.1_5'UTR	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	143	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.A143T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GTAGTCAGTGCCACCTCTGGT	0.418																																						uc003qhj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(427-429)GCA>ACA		interleukin 20 receptor, alpha precursor							91.0	87.0	88.0					6																	137330606		2203	4300	6503	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137330606C>T	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.427G>A	6.37:g.137330606C>T	ENSP00000314976:p.Ala143Thr					IL20RA_uc011edl.1_Missense_Mutation_p.A94T|IL20RA_uc003qhk.2_Missense_Mutation_p.A32T|IL20RA_uc010kgy.1_Intron|IL20RA_uc003qhi.2_5'Flank	p.A143T	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	4	860	-	Colorectal(23;0.24)		143			Extracellular (Potential).|Fibronectin type-III 2.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.427G>A	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	3.046	-0.196333	0.06259	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547;ENST00000367746	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.79	3.07	0.35406	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.388855	0.28865	N	0.013892	T	0.08179	0.0204	L	0.59436	1.845	0.26895	N	0.967236	P;B	0.35628	0.513;0.211	B;B	0.34873	0.191;0.11	T	0.37454	-0.9705	10	0.02654	T	1	-7.1596	7.8202	0.29284	0.0:0.6758:0.0:0.3242	.	32;143	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	T	143;32;94;143	ENSP00000314976:A143T;ENSP00000356722:A32T;ENSP00000437843:A94T;ENSP00000356720:A143T	ENSP00000314976:A143T	A	-	1	0	IL20RA	137372299	0.980000	0.34600	0.832000	0.32986	0.025000	0.11179	1.412000	0.34714	0.380000	0.24823	0.655000	0.94253	GCA		PASS	0.418	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		37	135	37	135	---	---	---	---
CITED2	10370	broad.mit.edu	37	6	139694413	139694413	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:139694413G>C	ENST00000367651.2	-	2	884	c.669C>G	c.(667-669)atC>atG	p.I223M	CITED2_ENST00000536159.1_Missense_Mutation_p.I223M|CITED2_ENST00000537332.1_Missense_Mutation_p.I223M	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	223	Asp/Glu-rich (acidic).				adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.I223M(1)		large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CTTCCTCGTCGATGAAATCAG	0.572																																					NSCLC(98;1219 1550 33720 43229 49330)	uc003qip.1																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)ATC>ATG		Cbp/p300-interacting transactivator, with							71.0	72.0	72.0					6																	139694413		2203	4300	6503	SO:0001583	missense	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139694413G>C	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.669C>G	6.37:g.139694413G>C	ENSP00000356623:p.Ile223Met						p.I223M	NM_006079	NP_006070	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	913	-	Breast(32;0.226)		223			Asp/Glu-rich (acidic).		O95426|Q5VTF4	Missense_Mutation	SNP	ENST00000367651.2	37	c.669C>G	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893222	0.33442	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.73047	-0.71;-0.71;-0.71	5.41	3.45	0.39498	.	0.000000	0.64402	D	0.000001	T	0.65637	0.2710	L	0.43152	1.355	0.48975	D	0.999737	D	0.61697	0.99	D	0.65684	0.937	T	0.65882	-0.6060	9	.	.	.	-7.0359	8.6843	0.34227	0.0843:0.0:0.6578:0.258	.	223	Q99967	CITE2_HUMAN	M	223;223;223;167	ENSP00000356623:I223M;ENSP00000442831:I223M;ENSP00000444198:I223M	.	I	-	3	3	CITED2	139736106	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	0.374000	0.20501	1.293000	0.44690	-0.136000	0.14681	ATC		PASS	0.572	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			45	134	45	134	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144860477	144860477	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:144860477G>T	ENST00000367545.3	+	44	6417	c.6417G>T	c.(6415-6417)ctG>ctT	p.L2139L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2139					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L2139L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCAAATGGCTGAATAGAACTG	0.348																																						uc003qkt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(6415-6417)CTG>CTT		utrophin							99.0	97.0	98.0					6																	144860477		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144860477G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.6417G>T	6.37:g.144860477G>T							p.L2139L	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	44	6509	+		Ovarian(120;0.218)	2139					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.6417G>T	CCDS34547.1																																																																																				PASS	0.348	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			35	125	35	125	---	---	---	---
KATNA1	11104	broad.mit.edu	37	6	149916342	149916342	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:149916342G>A	ENST00000335647.5	-	10	1350	c.1306C>T	c.(1306-1308)Cgc>Tgc	p.R436C	KATNA1_ENST00000494504.1_5'Flank|KATNA1_ENST00000335643.8_3'UTR|SNORA2_ENST00000365473.1_RNA|KATNA1_ENST00000367411.2_Missense_Mutation_p.R436C|RP1-12G14.7_ENST00000419134.1_RNA					katanin p60 (ATPase containing) subunit A 1									p.R436C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CCTTCAATGCGCCTTCTCATT	0.378																																						uc003qmr.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1306-1308)CGC>TGC		katanin p60 subunit A 1							91.0	83.0	86.0					6																	149916342		2203	4300	6503	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149916342G>A	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.1306C>T	6.37:g.149916342G>A	ENSP00000335106:p.Arg436Cys					KATNA1_uc003qms.2_Missense_Mutation_p.R436C|KATNA1_uc003qmt.2_3'UTR	p.R436C	NM_007044	NP_008975	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	10	1351	-		Ovarian(120;0.0164)	436						Missense_Mutation	SNP	ENST00000335647.5	37	c.1306C>T	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191290	0.78902	.	.	ENSG00000186625	ENST00000335647;ENST00000367411	D;D	0.94862	-3.54;-3.54	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.94072	0.7336	9	.	.	.	-20.1289	20.0015	0.97412	0.0:0.0:1.0:0.0	.	436	O75449	KTNA1_HUMAN	C	436	ENSP00000335106:R436C;ENSP00000356381:R436C	.	R	-	1	0	KATNA1	149958035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.216000	0.65246	2.803000	0.96430	0.655000	0.94253	CGC		PASS	0.378	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		26	88	26	88	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152651009	152651010	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:152651009_152651010GC>CT	ENST00000367255.5	-	78	15411_15412	c.14810_14811GC>AG	c.(14809-14811)aGC>aAG	p.S4937K	SYNE1_ENST00000265368.4_Missense_Mutation_p.S4937K|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4684K|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4866K|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4866K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4937					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S4937N(2)|p.S4937K(2)|p.S4937R(2)|p.S4866N(1)|p.S4866K(1)|p.S4866R(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGATTCTCAAGCTGGACTGGAC	0.49										HNSCC(10;0.0054)																												uc010kiw.2																			9	Substitution - Missense(9)		lung(9)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(14809-14811)AGC>AGG|c.(14809-14811)AGC>AAC		spectrin repeat containing, nuclear envelope 1																																				SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651009G>C|g.chr6:152651010C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14810_14811delinsCT	6.37:g.152651009_152651010delinsCT	ENSP00000356224:p.Ser4937Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.S4866R|SYNE1_uc003qou.3_Missense_Mutation_p.S4937R|SYNE1_uc010kiz.2_Missense_Mutation_p.S692R|SYNE1_uc003qot.3_Missense_Mutation_p.S4866N|SYNE1_uc003qou.3_Missense_Mutation_p.S4937N|SYNE1_uc010kiz.2_Missense_Mutation_p.S692N	p.S4937R|p.S4937N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15413|15412	-		Ovarian(120;0.0955)	4937			Cytoplasmic (Potential).|Potential.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14811C>G|c.14810G>A	CCDS5236.2																																																																																				PASS	0.490	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		100|99	368|359	99	359	---	---	---	---
MYCT1	80177	broad.mit.edu	37	6	153042970	153042970	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:153042970G>T	ENST00000367245.5	+	2	298	c.290G>T	c.(289-291)aGa>aTa	p.R97I	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	97						nucleus (GO:0005634)		p.R97I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TCTCGAAGAAGAAGAGCCAGT	0.493																																						uc003qpd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(289-291)AGA>ATA		myc target 1							155.0	140.0	145.0					6																	153042970		2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153042970G>T	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.290G>T	6.37:g.153042970G>T	ENSP00000356214:p.Arg97Ile					MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Missense_Mutation_p.R97I	p.R97I	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	298	+		Ovarian(120;0.0654)	97			Bipartite nuclear localization signal (Potential).		Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.290G>T	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	26.2|26.2	4.709970|4.709970	0.89018|0.89018	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000532295|ENST00000367245	.|T	.|0.39592	.|1.07	5.77|5.77	4.91|4.91	0.64330|0.64330	.|.	.|0.145674	.|0.64402	.|D	.|0.000014	.|T	.|0.31979	.|0.0814	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|D	.|0.65874	.|0.939	.|T	.|0.51513	.|-0.8696	.|10	.|0.87932	.|D	.|0	-17.7433|-17.7433	15.0917|15.0917	0.72201|0.72201	0.0682:0.0:0.9318:0.0|0.0682:0.0:0.9318:0.0	.|.	.|97	.|Q8N699	.|MYCT1_HUMAN	X|I	78|97	.|ENSP00000356214:R97I	.|ENSP00000356214:R97I	E|R	+|+	1|2	0|0	MYCT1|MYCT1	153084663|153084663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	0.437000|0.437000	0.21543|0.21543	1.443000|1.443000	0.47586|0.47586	0.573000|0.573000	0.79308|0.79308	GAA|AGA		PASS	0.493	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		47	152	47	152	---	---	---	---
GPR31	2853	broad.mit.edu	37	6	167570656	167570656	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:167570656C>T	ENST00000366834.1	-	1	1161	c.664G>A	c.(664-666)Gca>Aca	p.A222T		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	222					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A222T(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GTGACCAGTGCCTGGGCCCGC	0.582																																						uc011egq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(664-666)GCA>ACA		G protein-coupled receptor 31							69.0	78.0	75.0					6																	167570656		2203	4300	6503	SO:0001583	missense	2853					integral to plasma membrane	G-protein coupled receptor activity	g.chr6:167570656C>T	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.664G>A	6.37:g.167570656C>T	ENSP00000355799:p.Ala222Thr						p.A222T	NM_005299	NP_005290	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	1	664	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	222			Helical; Name=6; (Potential).		B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	c.664G>A	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	C	6.070	0.381254	0.11466	.	.	ENSG00000120436	ENST00000366834	T	0.37235	1.21	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.450089	0.16246	U	0.222925	T	0.15565	0.0375	L	0.39020	1.185	0.20873	N	0.999837	B	0.26708	0.157	B	0.33568	0.166	T	0.13442	-1.0509	10	0.35671	T	0.21	-18.9626	10.967	0.47418	0.0:0.8084:0.1916:0.0	.	222	O00270	GPR31_HUMAN	T	222	ENSP00000355799:A222T	ENSP00000355799:A222T	A	-	1	0	GPR31	167490646	0.019000	0.18553	0.810000	0.32431	0.497000	0.33675	0.224000	0.17738	1.854000	0.53819	0.196000	0.17591	GCA		PASS	0.582	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		30	161	30	161	---	---	---	---
TTLL2	83887	broad.mit.edu	37	6	167752259	167752259	+	Nonsense_Mutation	SNP	C	C	T	rs547856286	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr6:167752259C>T	ENST00000239587.5	+	2	260	c.172C>T	c.(172-174)Cga>Tga	p.R58*		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	58					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.R58*(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCTCCCAGGCGAGGCCGCCC	0.567													c|||	3	0.000599042	0.0023	0.0	5008	,	,		18453	0.0		0.0	False		,,,				2504	0.0					uc003qvs.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(172-174)CGA>TGA		tubulin tyrosine ligase-like family, member 2							97.0	68.0	78.0					6																	167752259		2203	4300	6503	SO:0001587	stop_gained	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167752259C>T	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.172C>T	6.37:g.167752259C>T	ENSP00000239587:p.Arg58*					TTLL2_uc011egr.1_RNA	p.R58*	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	260	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	58					B2RB11|B3KS77|Q7Z6R8|Q86X22	Nonsense_Mutation	SNP	ENST00000239587.5	37	c.172C>T	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	c	9.890	1.203941	0.22121	.	.	ENSG00000120440	ENST00000239587	.	.	.	1.42	0.441	0.16577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	4.6479	0.12580	0.3722:0.6278:0.0:0.0	.	.	.	.	X	58	.	ENSP00000239587:R58X	R	+	1	2	TTLL2	167672249	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.372000	0.00494	0.131000	0.18576	0.299000	0.19835	CGA		PASS	0.567	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		15	41	15	41	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18688287	18688287	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:18688287A>C	ENST00000432645.2	+	10	1439	c.1439A>C	c.(1438-1440)cAg>cCg	p.Q480P	HDAC9_ENST00000441542.2_Missense_Mutation_p.Q483P|HDAC9_ENST00000456174.2_Missense_Mutation_p.Q452P|HDAC9_ENST00000524023.1_Missense_Mutation_p.Q403P|HDAC9_ENST00000406451.4_Missense_Mutation_p.Q480P|HDAC9_ENST00000401921.1_Missense_Mutation_p.Q439P|HDAC9_ENST00000406072.1_Missense_Mutation_p.Q467P|HDAC9_ENST00000417496.2_Missense_Mutation_p.Q478P|HDAC9_ENST00000405010.3_Missense_Mutation_p.Q480P|HDAC9_ENST00000428307.2_Missense_Mutation_p.Q436P	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	480					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q483P(2)|p.Q480P(1)|p.Q478P(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAATACCAGCAGCAGATCCAC	0.473																																						uc003suh.2																			4	Substitution - Missense(4)		lung(4)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1438-1440)CAG>CCG		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						41.0	43.0	42.0					7																	18688287		2046	4192	6238	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18688287A>C	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1439A>C	7.37:g.18688287A>C	ENSP00000410337:p.Gln480Pro					HDAC9_uc003sue.2_Missense_Mutation_p.Q480P|HDAC9_uc011jyd.1_Missense_Mutation_p.Q480P|HDAC9_uc003sui.2_Missense_Mutation_p.Q483P|HDAC9_uc003suj.2_Missense_Mutation_p.Q439P|HDAC9_uc011jya.1_Missense_Mutation_p.Q477P|HDAC9_uc003sua.1_Missense_Mutation_p.Q458P|HDAC9_uc011jyb.1_Missense_Mutation_p.Q436P|HDAC9_uc003sud.1_Missense_Mutation_p.Q480P|HDAC9_uc011jyc.1_Missense_Mutation_p.Q439P|HDAC9_uc003suf.1_Missense_Mutation_p.Q511P|HDAC9_uc010kud.1_Missense_Mutation_p.Q483P|HDAC9_uc011jye.1_Missense_Mutation_p.Q452P|HDAC9_uc011jyf.1_Missense_Mutation_p.Q403P|HDAC9_uc010kue.1_Missense_Mutation_p.Q223P	p.Q480P	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			10	1480	+	all_lung(11;0.187)		480					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1439A>C	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141940	0.77775	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.65364	0.33;0.37;-0.13;0.34;0.32;-0.09;-0.15;-0.13;0.38;0.32	5.28	5.28	0.74379	.	0.000000	0.36200	N	0.002730	T	0.75671	0.3881	L	0.58428	1.81	0.80722	D	1	D;P;D;P;D;D;B;D;D;D;B;D;D;P	0.71674	0.995;0.924;0.997;0.947;0.995;0.997;0.371;0.981;0.998;0.996;0.371;0.998;0.974;0.936	D;P;D;P;D;D;B;P;P;P;B;P;P;B	0.78314	0.969;0.462;0.991;0.454;0.979;0.991;0.17;0.714;0.862;0.731;0.17;0.862;0.663;0.369	T	0.77694	-0.2492	10	0.59425	D	0.04	-9.8317	15.2052	0.73173	1.0:0.0:0.0:0.0	.	403;452;480;467;478;480;483;439;483;480;452;480;480;458	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	P	478;481;480;480;436;467;439;480;483;452;403;480	ENSP00000401669:Q478P;ENSP00000384382:Q480P;ENSP00000384657:Q480P;ENSP00000395655:Q436P;ENSP00000384017:Q467P;ENSP00000383912:Q439P;ENSP00000410337:Q480P;ENSP00000408617:Q483P;ENSP00000388568:Q452P;ENSP00000430036:Q403P	ENSP00000262069:Q481P	Q	+	2	0	HDAC9	18654812	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.730000	0.91510	2.005000	0.58758	0.455000	0.32223	CAG		PASS	0.473	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			5	25	5	25	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18914192	18914192	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:18914192C>A	ENST00000432645.2	+	21	2767	c.2767C>A	c.(2767-2769)Cta>Ata	p.L923I	HDAC9_ENST00000441542.2_Missense_Mutation_p.L926I|HDAC9_ENST00000406451.4_Missense_Mutation_p.L923I|HDAC9_ENST00000401921.1_Missense_Mutation_p.L882I	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	923	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L926I(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CACCCCTCCTCTAGGAGGGTA	0.458																																						uc003suh.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2767-2769)CTA>ATA		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						69.0	64.0	65.0					7																	18914192		1882	4116	5998	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18914192C>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2767C>A	7.37:g.18914192C>A	ENSP00000410337:p.Leu923Ile					HDAC9_uc003sue.2_Missense_Mutation_p.L923I|HDAC9_uc003sui.2_Missense_Mutation_p.L926I|HDAC9_uc003suj.2_Missense_Mutation_p.L882I|HDAC9_uc003suk.2_Missense_Mutation_p.L171I	p.L923I	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			21	2808	+	all_lung(11;0.187)		923			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2767C>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471045	0.63625	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.63	3.56	0.40772	Histone deacetylase domain (2);	0.000000	0.45361	D	0.000368	D	0.84497	0.5485	M	0.81239	2.535	0.80722	D	1	D;P;P;D;P	0.89917	1.0;0.952;0.952;0.961;0.952	D;D;D;D;D	0.83275	0.996;0.989;0.989;0.994;0.989	D	0.85203	0.1016	10	0.87932	D	0	-34.5197	9.5483	0.39295	0.0:0.745:0.0:0.255	.	171;882;926;923;923	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	I	923;882;923;926;835	ENSP00000384657:L923I;ENSP00000383912:L882I;ENSP00000410337:L923I;ENSP00000408617:L926I	ENSP00000339165:L835I	L	+	1	2	HDAC9	18880717	0.666000	0.27475	0.998000	0.56505	0.997000	0.91878	1.109000	0.31135	1.129000	0.42072	0.591000	0.81541	CTA		PASS	0.458	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			10	12	10	12	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31848707	31848708	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:31848707_31848708CC>AA	ENST00000396191.1	-	16	2283_2284	c.1828_1829GG>TT	c.(1828-1830)GGt>TTt	p.G610F	PDE1C_ENST00000396193.1_Missense_Mutation_p.G670F|PDE1C_ENST00000321453.7_Missense_Mutation_p.G610F|PDE1C_ENST00000396184.3_Missense_Mutation_p.G610F|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396182.2_Missense_Mutation_p.G610F	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	610					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.G610V(2)|p.G610F(2)|p.G610C(2)|p.G670C(1)|p.G670F(1)|p.G670V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CTTATTTTTACCATCTTTGAAG	0.322																																						uc003tcm.1																			9	Substitution - Missense(9)		lung(9)	skin(3)|central_nervous_system(1)	4						c.(1828-1830)GGT>GTT|c.(1828-1830)GGT>TGT		phosphodiesterase 1C																																				SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31848707C>A|g.chr7:31848708C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1828_1829delinsAA	7.37:g.31848707_31848708delinsAA	ENSP00000379494:p.Gly610Phe					PDE1C_uc003tcn.1_Missense_Mutation_p.G610V|PDE1C_uc003tco.1_Missense_Mutation_p.G670V|PDE1C_uc003tcr.2_Missense_Mutation_p.G610V|PDE1C_uc003tcs.2_Missense_Mutation_p.G610V|PDE1C_uc003tcn.1_Missense_Mutation_p.G610C|PDE1C_uc003tco.1_Missense_Mutation_p.G670C|PDE1C_uc003tcr.2_Missense_Mutation_p.G610C|PDE1C_uc003tcs.2_Missense_Mutation_p.G610C	p.G610V|p.G610C	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		16	2298|2297	-			610					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1829G>T|c.1828G>T	CCDS55099.1																																																																																				PASS	0.322	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			8	83|81	8	81	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48353926	48353926	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:48353926C>A	ENST00000435803.1	+	26	9803	c.9779C>A	c.(9778-9780)tCt>tAt	p.S3260Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3260					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S3260Y(2)|p.S3205Y(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTAGCGATTCTAATATGTTT	0.363																																						uc003toq.2																			4	Substitution - Missense(4)		lung(2)|kidney(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(9778-9780)TCT>TAT		ATP binding cassette, sub-family A (ABC1),							77.0	71.0	73.0					7																	48353926		1812	4084	5896	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48353926C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9779C>A	7.37:g.48353926C>A	ENSP00000411096:p.Ser3260Tyr					ABCA13_uc010kys.1_Missense_Mutation_p.S334Y|ABCA13_uc003tos.1_Missense_Mutation_p.S86Y	p.S3260Y	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			26	9804	+			3260					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.9779C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574111	0.45902	.	.	ENSG00000179869	ENST00000435803	D	0.86432	-2.12	5.7	5.7	0.88788	.	0.141719	0.32918	N	0.005493	D	0.91971	0.7457	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.68192	0.885;0.956	D	0.92103	0.5690	10	0.72032	D	0.01	.	17.353	0.87329	0.0:1.0:0.0:0.0	.	962;3260	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	Y	3260	ENSP00000411096:S3260Y	ENSP00000411096:S3260Y	S	+	2	0	ABCA13	48324472	0.002000	0.14202	0.092000	0.20876	0.211000	0.24417	1.600000	0.36762	2.848000	0.98002	0.655000	0.94253	TCT		PASS	0.363	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		14	38	14	38	---	---	---	---
ZNF713	349075	broad.mit.edu	37	7	56007350	56007350	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:56007350C>G	ENST00000429591.2	+	4	982	c.944C>G	c.(943-945)tCc>tGc	p.S315C	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	315					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.S315C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGCATTCATCCTTTACTCAA	0.403																																						uc003trc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(943-945)TCC>TGC		zinc finger protein 713							95.0	101.0	99.0					7																	56007350		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007350C>G	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.944C>G	7.37:g.56007350C>G	ENSP00000416662:p.Ser315Cys					ZNF713_uc003tra.1_Missense_Mutation_p.S328C|MRPS17_uc003trb.2_Intron	p.S315C	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	982	+	Breast(14;0.214)		315			C2H2-type 2.			Missense_Mutation	SNP	ENST00000429591.2	37	c.944C>G	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	C	8.682	0.905457	0.17760	.	.	ENSG00000178665	ENST00000429591	T	0.37058	1.22	3.26	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38663	N	0.001606	T	0.53351	0.1791	M	0.64630	1.985	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.38243	-0.9670	10	0.39692	T	0.17	.	12.8046	0.57605	0.0:1.0:0.0:0.0	.	315	Q8N859	ZN713_HUMAN	C	315	ENSP00000416662:S315C	ENSP00000416662:S315C	S	+	2	0	ZNF713	55974844	0.000000	0.05858	1.000000	0.80357	0.405000	0.30901	-1.713000	0.01883	2.129000	0.65627	0.467000	0.42956	TCC		PASS	0.403	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		59	221	59	221	---	---	---	---
ELN	2006	broad.mit.edu	37	7	73466304	73466304	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:73466304G>T	ENST00000252034.7	+	17	1339	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	ELN_ENST00000429192.1_Missense_Mutation_p.A319S|ELN_ENST00000414324.1_Missense_Mutation_p.A309S|ELN_ENST00000445912.1_Missense_Mutation_p.A314S|ELN_ENST00000320492.7_Missense_Mutation_p.A278S|ELN_ENST00000380575.4_Missense_Mutation_p.A304S|ELN_ENST00000320399.6_Missense_Mutation_p.A314S|ELN_ENST00000380584.4_Missense_Mutation_p.A300S|ELN_ENST00000380553.4_Missense_Mutation_p.A197S|ELN_ENST00000380562.4_Missense_Mutation_p.A314S|ELN_ENST00000357036.5_Missense_Mutation_p.A319S|ELN_ENST00000380576.5_Missense_Mutation_p.A314S|ELN_ENST00000458204.1_Missense_Mutation_p.A304S|ELN_ENST00000358929.4_Missense_Mutation_p.A314S	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	314	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.A314S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CGCTAAGGCAGCCAAGTATGG	0.622			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tzw.2				Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(940-942)GCC>TCC		elastin isoform a precursor	Rofecoxib(DB00533)						36.0	42.0	40.0					7																	73466304		2203	4296	6499	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73466304G>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.940G>T	7.37:g.73466304G>T	ENSP00000252034:p.Ala314Ser		OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1145	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Missense_Mutation_p.A283S|ELN_uc003tzn.2_Missense_Mutation_p.A314S|ELN_uc003tzz.2_Missense_Mutation_p.A278S|ELN_uc003tzo.2_Missense_Mutation_p.A300S|ELN_uc003tzp.2_Missense_Mutation_p.A270S|ELN_uc003tzq.2_Missense_Mutation_p.A197S|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.A314S|ELN_uc003tzt.2_Missense_Mutation_p.A319S|ELN_uc003tzu.2_Missense_Mutation_p.A319S|ELN_uc003tzv.2_Missense_Mutation_p.A304S|ELN_uc003tzx.2_Missense_Mutation_p.A304S|ELN_uc011kff.1_Missense_Mutation_p.A314S|ELN_uc003tzy.2_Missense_Mutation_p.A309S	p.A314S	NM_000501	NP_001075224	P15502	ELN_HUMAN			17	1031	+		Lung NSC(55;0.159)	314			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.940G>T	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783126	0.31593	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000438906;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61627	0.73;0.71;0.81;0.49;0.09;0.74;0.76;0.64;0.82;0.77;0.75;0.8;0.85;0.77;0.69	4.76	4.76	0.60689	.	.	.	.	.	T	0.65913	0.2737	L	0.35854	1.095	0.38682	D	0.952556	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.77557	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	T	0.69423	-0.5149	9	0.51188	T	0.08	.	13.3478	0.60584	0.0:0.0:1.0:0.0	.	314;283;278;309;304;314;304;319;319;314;197;270;300;314	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	314;314;314;278;292;309;314;304;300;304;319;319;283;197;314;314	ENSP00000389857:A314S;ENSP00000252034:A314S;ENSP00000351807:A314S;ENSP00000315607:A278S;ENSP00000406949:A292S;ENSP00000392575:A309S;ENSP00000369936:A314S;ENSP00000369949:A304S;ENSP00000369958:A300S;ENSP00000403162:A304S;ENSP00000349540:A319S;ENSP00000391129:A319S;ENSP00000369926:A197S;ENSP00000369950:A314S;ENSP00000313565:A314S	ENSP00000252034:A314S	A	+	1	0	ELN	73104240	1.000000	0.71417	0.998000	0.56505	0.271000	0.26615	5.080000	0.64437	2.208000	0.71279	0.456000	0.33151	GCC		PASS	0.622	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		13	45	13	45	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81355244	81355244	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:81355244C>A	ENST00000222390.5	-	9	1356	c.1130G>T	c.(1129-1131)tGc>tTc	p.C377F	HGF_ENST00000457544.2_Missense_Mutation_p.C372F	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	377	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.C377F(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AATTTGGGAGCAGTAGCCAAC	0.453																																						uc003uhl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1129-1131)TGC>TTC		hepatocyte growth factor isoform 1							159.0	146.0	150.0					7																	81355244		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81355244C>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1130G>T	7.37:g.81355244C>A	ENSP00000222390:p.Cys377Phe					HGF_uc003uhm.2_Missense_Mutation_p.C372F	p.C377F	NM_000601	NP_000592	P14210	HGF_HUMAN			9	1295	-			377			Kringle 3.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1130G>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230701	0.79688	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.93906	-3.31;-3.31	5.51	5.51	0.81932	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.98832	1.0751	10	0.46703	T	0.11	.	19.4111	0.94673	0.0:1.0:0.0:0.0	.	372;377	P14210-3;P14210	.;HGF_HUMAN	F	377;372	ENSP00000222390:C377F;ENSP00000391238:C372F	ENSP00000222390:C377F	C	-	2	0	HGF	81193180	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.921000	0.75805	2.580000	0.87095	0.591000	0.81541	TGC		PASS	0.453	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		81	272	81	272	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93116264	93116264	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:93116264C>T	ENST00000394441.1	-	2	345	c.30G>A	c.(28-30)ttG>ttA	p.L10L	CALCR_ENST00000426151.1_Silent_p.L10L|CALCR_ENST00000360249.4_Silent_p.L10L|CALCR_ENST00000359558.2_Silent_p.L28L|CALCR_ENST00000421592.1_Silent_p.L10L|MIR489_ENST00000384923.1_RNA	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	28					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L10L(1)|p.L28L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GAAACAGTGCCAAGCACCGGC	0.303																																						uc003umv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(82-84)TTG>TTA		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						111.0	119.0	116.0					7																	93116264		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93116264C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.30G>A	7.37:g.93116264C>T						CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.L10L|CALCR_uc003umw.2_Silent_p.L10L|MIR489_hsa-mir-489|MI0003124_5'Flank	p.L28L	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		3	345	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		10					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.84G>A	CCDS5631.1																																																																																				PASS	0.303	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		48	190	48	190	---	---	---	---
PPP1R9A	55607	broad.mit.edu	37	7	94540608	94540608	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:94540608G>A	ENST00000433881.1	+	2	1715	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V395M|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V395M|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.V395M|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V395M|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V395M			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	395					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.V395M(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGGTTCCCATGTGTACATGCA	0.438										HNSCC(28;0.073)																												uc003unp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1183-1185)GTG>ATG		protein phosphatase 1, regulatory (inhibitor)							72.0	71.0	71.0					7																	94540608		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540608G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1183G>A	7.37:g.94540608G>A	ENSP00000398870:p.Val395Met	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.V395M|PPP1R9A_uc011kif.1_Missense_Mutation_p.V395M|PPP1R9A_uc003unq.2_Missense_Mutation_p.V395M|PPP1R9A_uc011kig.1_Missense_Mutation_p.V395M	p.V395M	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1465	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		395					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1183G>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	9.104	1.004884	0.19199	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.54	3.65	0.41850	.	0.570211	0.18281	N	0.146002	D	0.94725	0.8298	M	0.63428	1.95	0.34033	D	0.654088	D;D;D;B;B	0.76494	0.989;0.998;0.999;0.039;0.007	P;D;D;B;B	0.71184	0.726;0.942;0.972;0.022;0.009	D	0.94302	0.7538	9	.	.	.	.	7.2508	0.26148	0.156:0.1365:0.7075:0.0	.	395;395;395;395;395	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	M	395	ENSP00000405514:V395M;ENSP00000344524:V395M;ENSP00000411342:V395M;ENSP00000398870:V395M;ENSP00000289495:V395M;ENSP00000402893:V395M	.	V	+	1	0	PPP1R9A	94378544	0.984000	0.35163	1.000000	0.80357	0.049000	0.14656	1.181000	0.32017	0.748000	0.32831	-0.355000	0.07637	GTG		PASS	0.438	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		18	95	18	95	---	---	---	---
ACN9	57001	broad.mit.edu	37	7	96810378	96810378	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:96810378G>C	ENST00000432641.2	+	2	1363	c.229G>C	c.(229-231)Gga>Cga	p.G77R	ACN9_ENST00000479853.1_3'UTR|ACN9_ENST00000360382.4_3'UTR	NM_020186.2	NP_064571.1			ACN9 homolog (S. cerevisiae)									p.G77R(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					AAATTCAACTGGAAAAGCATG	0.363																																						uc003uoo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GGA>CGA		ACN9 homolog precursor							79.0	79.0	79.0					7																	96810378		2203	4300	6503	SO:0001583	missense	57001				regulation of gluconeogenesis	mitochondrial intermembrane space		g.chr7:96810378G>C	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000432641.2:c.229G>C	7.37:g.96810378G>C	ENSP00000414066:p.Gly77Arg						p.G77R	NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN			2	1360	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)		77						Missense_Mutation	SNP	ENST00000432641.2	37	c.229G>C	CCDS5648.1	.	.	.	.	.	.	.	.	.	.	G	9.847	1.192721	0.21954	.	.	ENSG00000196636	ENST00000432641	.	.	.	4.99	4.99	0.66335	.	0.750392	0.13052	N	0.417632	T	0.58552	0.2130	L	0.54323	1.7	0.80722	D	1	B	0.15930	0.015	B	0.17722	0.019	T	0.51395	-0.8711	9	0.26408	T	0.33	-5.831	14.131	0.65253	0.0:0.0:1.0:0.0	.	77	Q9NRP4	ACN9_HUMAN	R	77	.	ENSP00000414066:G77R	G	+	1	0	ACN9	96648314	0.909000	0.30893	0.847000	0.33407	0.568000	0.35870	2.604000	0.46274	2.460000	0.83146	0.591000	0.81541	GGA		PASS	0.363	ACN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333685.3	NM_020186		22	77	22	77	---	---	---	---
ZSCAN25	221785	broad.mit.edu	37	7	99226964	99226964	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:99226964G>A	ENST00000394152.2	+	8	1283	c.956G>A	c.(955-957)gGc>gAc	p.G319D	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.G319D|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.G247D	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	319					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G319D(1)									GGCCCTGCAGGCAGTGCGCCT	0.652																																						uc003url.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(955-957)GGC>GAC		zinc finger and SCAN domain containing 25							60.0	57.0	58.0					7																	99226964		2203	4300	6503	SO:0001583	missense	221785				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99226964G>A	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.956G>A	7.37:g.99226964G>A	ENSP00000377708:p.Gly319Asp					ZNF498_uc003urm.1_Missense_Mutation_p.G155D|ZNF498_uc010lge.1_Missense_Mutation_p.G155D|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.G247D|ZNF498_uc003uro.1_Missense_Mutation_p.G103D	p.G319D	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN			8	1283	+	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		319					A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.956G>A	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.576368	0.00887	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.08720	3.1;3.1;3.06	4.42	2.56	0.30785	.	0.361448	0.20572	N	0.089713	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B;P	0.38195	0.275;0.622	B;B	0.31686	0.082;0.134	T	0.42310	-0.9459	10	0.11485	T	0.65	-7.6045	6.0739	0.19905	0.1056:0.1999:0.6945:0.0	.	247;319	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	D	319;319;247	ENSP00000377708:G319D;ENSP00000334800:G319D;ENSP00000262941:G247D	ENSP00000262941:G247D	G	+	2	0	ZNF498	99064900	0.015000	0.18098	0.027000	0.17364	0.001000	0.01503	0.624000	0.24462	0.575000	0.29434	-0.254000	0.11334	GGC		PASS	0.652	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		37	87	37	87	---	---	---	---
AP4M1	9179	broad.mit.edu	37	7	99699370	99699370	+	Silent	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:99699370G>A	ENST00000359593.4	+	1	191	c.33G>A	c.(31-33)aaG>aaA	p.K11K	AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000421755.1_Silent_p.K11K|MCM7_ENST00000303887.5_5'UTR|MCM7_ENST00000354230.3_5'Flank|AP4M1_ENST00000429084.1_Silent_p.K11K|MCM7_ENST00000343023.6_5'UTR	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	11					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.K11K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTCCTCCAAGGGGGACCCGC	0.647																																					Pancreas(174;1182 2812 29595 49511)	uc003utb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)AAG>AAA		adaptor-related protein complex 4, mu 1 subunit							65.0	75.0	72.0					7																	99699370		2203	4300	6503	SO:0001819	synonymous_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99699370G>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.33G>A	7.37:g.99699370G>A						MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_Silent_p.K11K|AP4M1_uc010lgl.1_Silent_p.K11K|AP4M1_uc003utc.3_Silent_p.K11K|AP4M1_uc010lgm.2_5'UTR|AP4M1_uc003utd.2_Silent_p.K11K|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank	p.K11K	NM_004722	NP_004713	O00189	AP4M1_HUMAN			1	241	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		11					D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	c.33G>A	CCDS5685.1																																																																																				PASS	0.647	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		8	68	8	68	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106509321	106509321	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:106509321C>T	ENST00000359195.3	+	2	1625	c.1315C>T	c.(1315-1317)Cca>Tca	p.P439S	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P439S|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P439S	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	439	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P439S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGGTAAAGCTCCAGCACTGTC	0.512																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1315-1317)CCA>TCA		phosphoinositide-3-kinase, catalytic, gamma							62.0	65.0	64.0					7																	106509321		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509321C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1315C>T	7.37:g.106509321C>T	ENSP00000352121:p.Pro439Ser					PIK3CG_uc003vdu.2_Missense_Mutation_p.P439S|PIK3CG_uc003vdw.2_Missense_Mutation_p.P439S	p.P439S	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1400	+			439					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1315C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	5.806	0.333096	0.11013	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69306	-0.39;-0.39;-0.39	5.73	4.82	0.62117	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.343044	0.33938	N	0.004403	T	0.53706	0.1813	L	0.29908	0.895	0.31857	N	0.621451	B	0.13594	0.008	B	0.21360	0.034	T	0.50742	-0.8792	10	0.11794	T	0.64	-10.3107	16.1265	0.81400	0.1341:0.8658:0.0:0.0	.	439	P48736	PK3CG_HUMAN	S	439	ENSP00000392258:P439S;ENSP00000419260:P439S;ENSP00000352121:P439S	ENSP00000352121:P439S	P	+	1	0	PIK3CG	106296557	0.338000	0.24775	0.050000	0.19076	0.009000	0.06853	2.703000	0.47110	2.706000	0.92434	0.655000	0.94253	CCA		PASS	0.512	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			49	152	49	152	---	---	---	---
DLD	1738	broad.mit.edu	37	7	107557360	107557360	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:107557360C>T	ENST00000205402.5	+	10	1278	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	DLD_ENST00000440410.1_Missense_Mutation_p.P310S|DLD_ENST00000437604.2_Missense_Mutation_p.P285S|DLD_ENST00000537148.1_Missense_Mutation_p.P234S	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	333					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)	p.P333S(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TGAACTAGATCCCAGAGGTAG	0.353																																						uc003vet.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(997-999)CCC>TCC		dihydrolipoamide dehydrogenase precursor	NADH(DB00157)						101.0	102.0	102.0					7																	107557360		2203	4300	6503	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107557360C>T	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.997C>T	7.37:g.107557360C>T	ENSP00000205402:p.Pro333Ser					DLD_uc011kmg.1_Missense_Mutation_p.P285S|DLD_uc011kmh.1_Missense_Mutation_p.P310S|DLD_uc011kmi.1_Missense_Mutation_p.P234S	p.P333S	NM_000108	NP_000099	P09622	DLDH_HUMAN			10	1107	+			333					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.997C>T	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199485	0.38806	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.7	1.66	0.24008	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.458353	0.27424	N	0.019436	T	0.21227	0.0511	N	0.08118	0	0.28746	N	0.901689	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.001	T	0.07539	-1.0767	10	0.46703	T	0.11	-0.0218	2.3193	0.04207	0.3828:0.3642:0.1054:0.1476	.	310;285;333	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	S	333;333;234;310;285;283	ENSP00000205402:P333S;ENSP00000390667:P333S;ENSP00000442399:P234S;ENSP00000417016:P310S;ENSP00000387542:P285S	ENSP00000205402:P333S	P	+	1	0	DLD	107344596	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	2.248000	0.43160	0.341000	0.23771	0.460000	0.39030	CCC		PASS	0.353	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		50	167	50	167	---	---	---	---
C7orf66	154907	broad.mit.edu	37	7	108524507	108524507	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:108524507C>A	ENST00000379007.2	-	1	137	c.83G>T	c.(82-84)aGt>aTt	p.S28I		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	28						integral component of membrane (GO:0016021)		p.S28I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGCAAGGCAACTGAGGCTCCA	0.393																																						uc003vfo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(82-84)AGT>ATT		hypothetical protein LOC154907							151.0	128.0	136.0					7																	108524507		2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524507C>A	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.83G>T	7.37:g.108524507C>A	ENSP00000368292:p.Ser28Ile						p.S28I	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			1	131	-			28			Helical; (Potential).			Missense_Mutation	SNP	ENST00000379007.2	37	c.83G>T	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	C	7.165	0.586482	0.13749	.	.	ENSG00000205174	ENST00000379007	.	.	.	2.81	-3.39	0.04868	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.28208	0.203	B	0.24006	0.05	T	0.23297	-1.0192	7	.	.	.	.	4.0748	0.09899	0.1761:0.2702:0.0:0.5537	.	28	A4D0T2	CG066_HUMAN	I	28	.	.	S	-	2	0	C7orf66	108311743	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.624000	0.05540	-0.943000	0.03691	-0.391000	0.06502	AGT		PASS	0.393	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		17	77	17	77	---	---	---	---
SND1	27044	broad.mit.edu	37	7	127569298	127569298	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:127569298G>T	ENST00000354725.3	+	15	1779	c.1585G>T	c.(1585-1587)Gct>Tct	p.A529S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	529	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.A529S(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TCGTTCTGAAGCTGTGGTGGA	0.428																																						uc003vmi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1585-1587)GCT>TCT		staphylococcal nuclease domain containing 1							243.0	219.0	227.0					7																	127569298		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127569298G>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1585G>T	7.37:g.127569298G>T	ENSP00000346762:p.Ala529Ser					SND1_uc010lle.2_Missense_Mutation_p.A182S	p.A529S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			15	1811	+			529			TNase-like 4.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.1585G>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308019	0.95629	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T;T	0.43688	0.94;0.94	4.96	4.96	0.65561	Staphylococcal nuclease (SNase-like) (3);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.050625	0.85682	D	0.000000	T	0.69433	0.3110	M	0.88105	2.93	0.80722	D	1	D	0.63880	0.993	D	0.71414	0.973	T	0.76200	-0.3046	10	0.72032	D	0.01	-12.2162	16.0521	0.80772	0.0:0.0:1.0:0.0	.	529	Q7KZF4	SND1_HUMAN	S	529;519;78	ENSP00000346762:A529S;ENSP00000419327:A78S	ENSP00000346762:A529S	A	+	1	0	SND1	127356534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.181000	0.94874	2.461000	0.83175	0.561000	0.74099	GCT		PASS	0.428	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		62	187	62	187	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128485140	128485140	+	Missense_Mutation	SNP	C	C	A	rs117864464	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:128485140C>A	ENST00000325888.8	+	21	3882	c.3621C>A	c.(3619-3621)aaC>aaA	p.N1207K	FLNC_ENST00000346177.6_Missense_Mutation_p.N1207K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1207					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.N1207K(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						TCCACAACAACGCGGATGGCA	0.607																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(3619-3621)AAC>AAA		gamma filamin isoform a							67.0	78.0	74.0					7																	128485140		2197	4286	6483	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128485140C>A	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.3621C>A	7.37:g.128485140C>A	ENSP00000327145:p.Asn1207Lys					FLNC_uc003voa.3_Missense_Mutation_p.N1207K	p.N1207K	NM_001458	NP_001449	Q14315	FLNC_HUMAN			21	3830	+			1207			Filamin 10.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.3621C>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365320	0.24684	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86230	-2.09;-2.09	5.56	-9.69	0.00524	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.049342	0.85682	D	0.000000	D	0.91640	0.7358	M	0.78801	2.425	0.25008	N	0.991421	P;D	0.58970	0.938;0.984	P;D	0.65684	0.692;0.937	D	0.87339	0.2330	10	0.48119	T	0.1	.	24.7376	0.99991	0.0:0.8005:0.0:0.1995	.	1207;1207	Q14315-2;Q14315	.;FLNC_HUMAN	K	1207	ENSP00000327145:N1207K;ENSP00000344002:N1207K	ENSP00000327145:N1207K	N	+	3	2	FLNC	128272376	0.000000	0.05858	0.031000	0.17742	0.019000	0.09904	-0.562000	0.05950	-2.609000	0.00446	-2.110000	0.00354	AAC		PASS	0.607	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			30	74	30	74	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135279324	135279324	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:135279324A>T	ENST00000285968.6	+	13	1886	c.1860A>T	c.(1858-1860)gaA>gaT	p.E620D	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	620					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.E620D(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CACTCTGTGAACACCCTCAGT	0.428																																						uc003vsw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1858-1860)GAA>GAT		nucleoporin 205kDa							102.0	103.0	102.0					7																	135279324		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135279324A>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1860A>T	7.37:g.135279324A>T	ENSP00000285968:p.Glu620Asp						p.E620D	NM_015135	NP_055950	Q92621	NU205_HUMAN			13	1891	+			620					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.1860A>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.030861	0.75504	.	.	ENSG00000155561	ENST00000285968	T	0.32023	1.47	5.36	-2.89	0.05665	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.45581	1.43	0.80722	D	1	D	0.52996	0.957	D	0.63283	0.913	T	0.14420	-1.0473	10	0.30854	T	0.27	-7.3718	14.6328	0.68668	0.2882:0.0:0.7118:0.0	.	620	Q92621	NU205_HUMAN	D	620	ENSP00000285968:E620D	ENSP00000285968:E620D	E	+	3	2	NUP205	134929864	0.910000	0.30920	0.977000	0.42913	0.758000	0.43043	0.041000	0.13927	-0.474000	0.06862	0.533000	0.62120	GAA		PASS	0.428	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			49	115	49	115	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700605	136700605	+	Silent	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:136700605C>G	ENST00000445907.2	+	3	1521	c.993C>G	c.(991-993)acC>acG	p.T331T	CHRM2_ENST00000402486.3_Silent_p.T331T|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.T331T|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Silent_p.T331T|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Silent_p.T331T|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.T331T|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	331					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.T331T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCACCAAGACCCCAAAAAGTG	0.453																																						uc003vtf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(991-993)ACC>ACG		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						104.0	105.0	104.0					7																	136700605		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700605C>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.993C>G	7.37:g.136700605C>G						CHRM2_uc003vtg.1_Silent_p.T331T|CHRM2_uc003vtj.1_Silent_p.T331T|CHRM2_uc003vtk.1_Silent_p.T331T|CHRM2_uc003vtl.1_Silent_p.T331T|CHRM2_uc003vtm.1_Silent_p.T331T|CHRM2_uc003vti.1_Silent_p.T331T|CHRM2_uc003vto.1_Silent_p.T331T|CHRM2_uc003vtn.1_Silent_p.T331T|uc003vtp.1_Intron	p.T331T	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1616	+			331			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.993C>G	CCDS5843.1																																																																																				PASS	0.453	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			35	102	35	102	---	---	---	---
C7orf55	154791	broad.mit.edu	37	7	139026191	139026191	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:139026191C>G	ENST00000297534.6	+	1	314	c.61C>G	c.(61-63)Ctg>Gtg	p.L21V	C7orf55_ENST00000481123.1_Intron|C7orf55-LUC7L2_ENST00000541170.3_Intron|LUC7L2_ENST00000541515.3_Missense_Mutation_p.L21V	NM_197964.4	NP_932068.2	Q96HJ9	CG055_HUMAN	chromosome 7 open reading frame 55	21						mitochondrion (GO:0005739)		p.L21V(1)		breast(1)|lung(2)	3						GTTGCGCTACCTGAGCGCGGC	0.652											OREG0018357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kqt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)CTG>GTG		LUC7-like 2							61.0	66.0	64.0					7																	139026191		2203	4300	6503	SO:0001583	missense	51631						enzyme binding|metal ion binding	g.chr7:139026191C>G	AF161386	CCDS5853.1	7q34	2009-01-22	2009-01-22	2009-01-22	ENSG00000164898	ENSG00000164898			26946	protein-coding gene	gene with protein product	"""formation of mitochondrial complexes 1 homolog (S. cerevisiae)"""					12477932	Standard	NM_197964		Approved	HSPC268, FMC1		Q96HJ9	OTTHUMG00000151719	ENST00000297534.6:c.61C>G	7.37:g.139026191C>G	ENSP00000297534:p.Leu21Val		OREG0018357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1645	LUC7L2_uc011kqs.1_Intron|C7orf55_uc003vuw.3_Missense_Mutation_p.L21V	p.L21V	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN			1	295	+	Melanoma(164;0.242)		Error:Variant_position_missing_in_Q9Y383_after_alignment					B7Z4Q3|Q75M90|Q9P0B3	Missense_Mutation	SNP	ENST00000297534.6	37	c.61C>G	CCDS5853.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855985	0.51376	.	.	ENSG00000164898;ENSG00000146963	ENST00000297534;ENST00000541515	T;T	0.39592	1.07;1.62	5.25	-5.48	0.02592	.	0.991253	0.08192	N	0.983664	T	0.12347	0.0300	N	0.05124	-0.11	0.19945	N	0.999942	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.29640	-1.0005	10	0.02654	T	1	0.0017	0.6811	0.00875	0.2552:0.1272:0.2811:0.3365	.	21;21	B7Z4Q3;Q96HJ9	.;CG055_HUMAN	V	21	ENSP00000297534:L21V;ENSP00000440222:L21V	ENSP00000297534:L21V	L	+	1	2	LUC7L2;C7orf55	138676731	0.522000	0.26266	0.833000	0.33012	0.915000	0.54546	-0.686000	0.05161	-0.963000	0.03600	-0.195000	0.12781	CTG		PASS	0.652	C7orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323626.1	NM_197964		31	71	31	71	---	---	---	---
RAB19	401409	broad.mit.edu	37	7	140125917	140125917	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:140125917G>C	ENST00000356407.3	+	3	689	c.621G>C	c.(619-621)caG>caC	p.Q207H	RAB19_ENST00000275874.5_Missense_Mutation_p.Q254H|RAB19_ENST00000537763.1_Missense_Mutation_p.Q207H			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	207					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.Q254H(1)		breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TTATGGCCCAGGGTCCAAGTG	0.577																																						uc010lni.2																			1	Substitution - Missense(1)		lung(1)		0						c.(619-621)CAG>CAC		RAB19, member RAS oncogene family							61.0	54.0	57.0					7																	140125917		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140125917G>C		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.621G>C	7.37:g.140125917G>C	ENSP00000348778:p.Gln207His					RAB19_uc011krc.1_Missense_Mutation_p.Q207H	p.Q207H	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN			4	819	+	Melanoma(164;0.0142)		207					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.621G>C	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	G	5.227	0.227436	0.09916	.	.	ENSG00000146955	ENST00000275874;ENST00000537763;ENST00000356407	T;T;T	0.65916	-0.18;-0.06;-0.06	5.69	1.24	0.21308	.	0.687923	0.14426	N	0.320345	T	0.33147	0.0853	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13656	-1.0501	9	.	.	.	.	3.76	0.08601	0.1924:0.1311:0.5433:0.1332	.	207	A4D1S5	RAB19_HUMAN	H	254;207;207	ENSP00000275874:Q254H;ENSP00000440167:Q207H;ENSP00000348778:Q207H	.	Q	+	3	2	RAB19	139772386	0.551000	0.26497	0.175000	0.22980	0.049000	0.14656	1.069000	0.30641	0.320000	0.23234	0.561000	0.74099	CAG		PASS	0.577	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			33	86	33	86	---	---	---	---
FAM131B	9715	broad.mit.edu	37	7	143054027	143054027	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:143054027T>A	ENST00000409408.1	-	6	2323	c.615A>T	c.(613-615)gaA>gaT	p.E205D	FAM131B_ENST00000409222.3_Missense_Mutation_p.E205D|FAM131B_ENST00000409346.1_Missense_Mutation_p.E205D|FAM131B_ENST00000443739.2_Missense_Mutation_p.E233D|FAM131B_ENST00000409578.1_Missense_Mutation_p.E221D			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	205								p.E233D(1)|p.E205D(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GATCGCTGGCTTCCCAGGCAT	0.552																																						uc003wct.2																			2	Substitution - Missense(2)		lung(2)		0						c.(613-615)GAA>GAT		hypothetical protein LOC9715 isoform b							63.0	58.0	60.0					7																	143054027		2203	4300	6503	SO:0001583	missense	9715							g.chr7:143054027T>A	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.615A>T	7.37:g.143054027T>A	ENSP00000387017:p.Glu205Asp					FAM131B_uc010loz.2_Missense_Mutation_p.E173D|FAM131B_uc003wcu.3_Missense_Mutation_p.E205D|FAM131B_uc010lpa.2_Missense_Mutation_p.E233D	p.E205D	NM_014690	NP_055505	Q86XD5	F131B_HUMAN			6	2321	-	Melanoma(164;0.205)		205					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	c.615A>T	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.097739	0.37048	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.46	4.33	0.51752	.	0.099060	0.64402	D	0.000001	T	0.37019	0.0988	L	0.55481	1.735	0.37254	D	0.906703	D;B	0.64830	0.994;0.009	P;B	0.57720	0.826;0.016	T	0.46582	-0.9181	10	0.48119	T	0.1	-20.4498	2.3967	0.04392	0.0:0.1925:0.3128:0.4948	.	221;205	Q86XD5-2;Q86XD5	.;F131B_HUMAN	D	233;221;205;209;205;205	ENSP00000410603:E233D;ENSP00000386568:E221D;ENSP00000386984:E205D;ENSP00000387017:E205D;ENSP00000387147:E205D	ENSP00000387147:E205D	E	-	3	2	FAM131B	142764149	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.024000	0.30077	2.072000	0.62099	0.533000	0.62120	GAA		PASS	0.552	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		32	64	32	64	---	---	---	---
EPHA1	2041	broad.mit.edu	37	7	143098452	143098452	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:143098452C>A	ENST00000275815.3	-	3	483	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	133	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.V133L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGAATGCCCACATCCTGGTCA	0.607																																						uc003wcz.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|breast(1)	5						c.(397-399)GTG>TTG		ephrin receptor EphA1 precursor							102.0	105.0	104.0					7																	143098452		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143098452C>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.397G>T	7.37:g.143098452C>A	ENSP00000275815:p.Val133Leu						p.V133L	NM_005232	NP_005223	P21709	EPHA1_HUMAN			3	484	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	133			Extracellular (Potential).		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.397G>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754694	0.49362	.	.	ENSG00000146904	ENST00000275815	T	0.09255	3.0	4.61	4.61	0.57282	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.48767	D	0.000161	T	0.20740	0.0499	L	0.31664	0.95	0.47949	D	0.999551	D	0.69078	0.997	D	0.80764	0.994	T	0.02844	-1.1103	10	0.27082	T	0.32	.	15.8045	0.78483	0.0:1.0:0.0:0.0	.	133	P21709	EPHA1_HUMAN	L	133	ENSP00000275815:V133L	ENSP00000275815:V133L	V	-	1	0	EPHA1	142808574	0.996000	0.38824	0.999000	0.59377	0.998000	0.95712	3.386000	0.52492	2.393000	0.81446	0.643000	0.83706	GTG		PASS	0.607	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			102	179	102	179	---	---	---	---
ZNF783	100289678	broad.mit.edu	37	7	148964026	148964026	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:148964026G>T	ENST00000434415.1	+	3	700	c.537G>T	c.(535-537)ctG>ctT	p.L179L		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	179	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L179L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ACGAGACGCTGGTCTCCCTGG	0.562																																						uc003wfr.3																			1	Substitution - coding silent(1)		lung(1)										Homo sapiens cDNA FLJ36716 fis, clone UTERU2010651.							208.0	168.0	181.0					7																	148964026		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr7:148964026G>T	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.537G>T	7.37:g.148964026G>T														3		+								C9J9J2	RNA	SNP	ENST00000434415.1	37	c.700G>T	CCDS56519.1																																																																																				PASS	0.562	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		52	139	52	139	---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149129236	149129236	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:149129236C>A	ENST00000247930.4	-	6	2450	c.2127G>T	c.(2125-2127)ctG>ctT	p.L709L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	709					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.L709L(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGTGGCGCAGCAGGTGCGAGG	0.637																																						uc003wfv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2125-2127)CTG>CTT		zinc finger protein 777							47.0	58.0	54.0					7																	149129236		2195	4298	6493	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129236C>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.2127G>T	7.37:g.149129236C>A							p.L709L	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2290	-	Melanoma(164;0.165)		709			C2H2-type 5.		Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.2127G>T	CCDS43675.1																																																																																				PASS	0.637	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		35	75	35	75	---	---	---	---
ZNF746	155061	broad.mit.edu	37	7	149174139	149174139	+	Splice_Site	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:149174139C>A	ENST00000340622.3	-	6	993		c.e6-1		ZNF746_ENST00000458143.2_Splice_Site			Q6NUN9	ZN746_HUMAN	zinc finger protein 746						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAATGGACACCTGCGGTAAGG	0.617																																						uc003wfw.2																			1	Unknown(1)		lung(1)	ovary(2)|breast(1)	3						c.e6-1		zinc finger protein 746 isoform 2							102.0	77.0	85.0					7																	149174139		2203	4300	6503	SO:0001630	splice_region_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149174139C>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.713-1G>T	7.37:g.149174139C>A						ZNF746_uc010lpi.2_Splice_Site_p.G238_splice	p.G238_splice	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	984	-	Melanoma(164;0.165)							A8K6Z9|Q6ZRF9	Splice_Site	SNP	ENST00000340622.3	37	c.713_splice	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	C	8.446	0.851987	0.17034	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0958	0.53755	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF746	148805072	0.993000	0.37304	0.747000	0.31113	0.138000	0.21146	2.224000	0.42945	2.226000	0.72624	0.561000	0.74099	.		PASS	0.617	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557	Intron	21	43	21	43	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9592555	9592555	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:9592555G>T	ENST00000310430.6	+	16	2520	c.2494G>T	c.(2494-2496)Gac>Tac	p.D832Y	TNKS_ENST00000518281.1_Missense_Mutation_p.D595Y	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	832					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.D832Y(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CAACTGCAGAGACACCCAGGG	0.542																																						uc003wss.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|kidney(1)	7						c.(2494-2496)GAC>TAC		tankyrase, TRF1-interacting ankyrin-related							74.0	74.0	74.0					8																	9592555		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9592555G>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2494G>T	8.37:g.9592555G>T	ENSP00000311579:p.Asp832Tyr					TNKS_uc011kww.1_Missense_Mutation_p.D595Y|TNKS_uc010lrt.1_RNA	p.D832Y	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	16	2499	+			832					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.2494G>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770015	0.90020	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.75477	-0.94;2.4	5.46	5.46	0.80206	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.87030	0.6076	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87600	0.2496	10	0.59425	D	0.04	.	19.315	0.94208	0.0:0.0:1.0:0.0	.	832	O95271	TNKS1_HUMAN	Y	832;595	ENSP00000311579:D832Y;ENSP00000429890:D595Y	ENSP00000311579:D832Y	D	+	1	0	TNKS	9629965	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.954000	0.87848	2.577000	0.86979	0.655000	0.94253	GAC		PASS	0.542	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		35	94	35	94	---	---	---	---
PINX1	54984	broad.mit.edu	37	8	10690487	10690488	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:10690487_10690488CC>AA	ENST00000314787.3	-	3	255_256	c.136_137GG>TT	c.(136-138)GGg>TTg	p.G46L	PINX1_ENST00000519088.1_Missense_Mutation_p.G46L|PINX1_ENST00000426190.2_Missense_Mutation_p.G44L|PINX1_ENST00000520018.2_5'UTR|SOX7_ENST00000554914.1_Missense_Mutation_p.G46L|SOX7_ENST00000553390.1_Missense_Mutation_p.G46L	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	46	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)	p.G46W(1)|p.G46V(1)|p.G46L(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		CTCCTGAGCCCCTAAACCCTGT	0.46																																						uc011kwz.1																			3	Substitution - Missense(3)		lung(3)	breast(1)	1						c.(136-138)GGG>GTG|c.(136-138)GGG>TGG		SRY-box 7																																				SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10690487C>A|g.chr8:10690488C>A	AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.136_137delinsAA	8.37:g.10690487_10690488delinsAA	ENSP00000318966:p.Gly46Leu					PINX1_uc003wth.2_Missense_Mutation_p.G46V|PINX1_uc003wti.2_Missense_Mutation_p.G46V|PINX1_uc003wth.2_Missense_Mutation_p.G46W|PINX1_uc003wti.2_Missense_Mutation_p.G46W	p.G46V|p.G46W	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	3	170|169	-			Error:Variant_position_missing_in_Q9BT81_after_alignment					B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	c.137G>T|c.136G>T	CCDS47801.1																																																																																				PASS	0.460	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		7	13	7	13	---	---	---	---
MICU3	286097	broad.mit.edu	37	8	16962001	16962001	+	Splice_Site	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:16962001G>A	ENST00000318063.5	+	10	1127		c.e10+1		MICU3_ENST00000519866.1_Splice_Site	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.?(1)									ATTTTTATAGGTGAGCttatt	0.308																																						uc003wxd.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e10+1		EF-hand domain family, member A2							36.0	37.0	37.0					8																	16962001		2203	4288	6491	SO:0001630	splice_region_variant	286097					integral to membrane	calcium ion binding	g.chr8:16962001G>A	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1085+1G>A	8.37:g.16962001G>A							p.R362_splice	NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN		Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)	10	1127	+								Q8IYZ3	Splice_Site	SNP	ENST00000318063.5	37	c.1085_splice	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005048	0.74932	.	.	ENSG00000155970	ENST00000318063;ENST00000519044	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7285	0.91724	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFHA2	17006372	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.219000	0.95173	2.591000	0.87537	0.650000	0.86243	.		PASS	0.308	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723	Intron	19	50	19	50	---	---	---	---
STC1	6781	broad.mit.edu	37	8	23708999	23708999	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:23708999C>A	ENST00000290271.2	-	3	590	c.307G>T	c.(307-309)Gtc>Ttc	p.V103F	STC1_ENST00000524323.1_Missense_Mutation_p.V34F	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	103					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.V103F(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TTGGAGGTGACCCCGTTGGCG	0.512																																						uc003xdw.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(307-309)GTC>TTC		stanniocalcin 1 precursor							139.0	120.0	126.0					8																	23708999		2203	4300	6503	SO:0001583	missense	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23708999C>A		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.307G>T	8.37:g.23708999C>A	ENSP00000290271:p.Val103Phe						p.V103F	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	591	-		Prostate(55;0.055)|Breast(100;0.116)	103					B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	c.307G>T	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646466	0.47258	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.75	1.19	0.21007	.	0.278962	0.41712	D	0.000832	T	0.37865	0.1019	L	0.29908	0.895	0.35674	D	0.813533	P	0.37101	0.582	B	0.37267	0.245	T	0.47911	-0.9080	9	0.72032	D	0.01	-24.3981	9.3585	0.38182	0.0:0.5409:0.0:0.4591	.	103	P52823	STC1_HUMAN	F	103;34;34	.	ENSP00000290271:V103F	V	-	1	0	STC1	23764944	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.483000	0.35497	0.296000	0.22592	0.655000	0.94253	GTC		PASS	0.512	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			29	85	29	85	---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24771526	24771526	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:24771526A>T	ENST00000221166.5	+	1	1002	c.220A>T	c.(220-222)Agc>Tgc	p.S74C	RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.S74C|NEFM_ENST00000437366.2_Missense_Mutation_p.S74C|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_5'Flank			P07197	NFM_HUMAN	neurofilament, medium polypeptide	74	Head.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.S74C(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGCCGAGAGCAGCCTTGACTT	0.682																																						uc003xed.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(220-222)AGC>TGC		neurofilament, medium polypeptide 150kDa isoform							32.0	36.0	34.0					8																	24771526		2169	4259	6428	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771526A>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.220A>T	8.37:g.24771526A>T	ENSP00000221166:p.Ser74Cys					NEFM_uc011lac.1_Missense_Mutation_p.S74C|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	p.S74C	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	253	+		Prostate(55;0.157)	74			Head.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.220A>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478024	0.63849	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.84516	-1.86;-1.86;-1.86	3.82	3.82	0.43975	Intermediate filament head, DNA-binding domain (1);	0.000000	0.46758	D	0.000274	D	0.90875	0.7133	M	0.70595	2.14	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.91872	0.5508	10	0.87932	D	0	.	13.0401	0.58895	1.0:0.0:0.0:0.0	.	74;74	E7EMV2;P07197	.;NFM_HUMAN	C	74	ENSP00000221166:S74C;ENSP00000427872:S74C;ENSP00000410137:S74C	ENSP00000221166:S74C	S	+	1	0	NEFM	24827431	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	5.501000	0.66950	1.722000	0.51474	0.383000	0.25322	AGC		PASS	0.682	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		17	15	17	15	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30999085	30999085	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:30999085A>G	ENST00000298139.5	+	25	3356	c.3107A>G	c.(3106-3108)aAa>aGa	p.K1036R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1036					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.K1036R(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CGGTATAACAAATTTATGAAG	0.408			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(3106-3108)AAA>AGA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							103.0	102.0	102.0					8																	30999085		2203	4300	6503	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30999085A>G		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3107A>G	8.37:g.30999085A>G	ENSP00000298139:p.Lys1036Arg					WRN_uc010lvk.2_Missense_Mutation_p.K503R	p.K1036R	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	25	3895	+		Breast(100;0.195)	1036					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.3107A>G	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.611614	0.46631	.	.	ENSG00000165392	ENST00000298139	T	0.30448	1.53	5.9	3.54	0.40534	RQC domain (2);	0.108230	0.64402	N	0.000011	T	0.37265	0.0997	L	0.60957	1.885	0.40136	D	0.976772	B;B	0.22541	0.071;0.071	B;B	0.39531	0.24;0.302	T	0.21518	-1.0243	10	0.48119	T	0.1	-23.4533	9.9289	0.41510	0.8622:0.0:0.1378:0.0	.	446;1036	Q59F09;Q14191	.;WRN_HUMAN	R	1036	ENSP00000298139:K1036R	ENSP00000298139:K1036R	K	+	2	0	WRN	31118627	0.997000	0.39634	0.028000	0.17463	0.025000	0.11179	1.187000	0.32090	0.498000	0.27948	0.528000	0.53228	AAA		PASS	0.408	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			36	151	36	151	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35579763	35579763	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:35579763G>T	ENST00000404895.2	+	9	1481	c.1153G>T	c.(1153-1155)Ggc>Tgc	p.G385C	UNC5D_ENST00000453357.2_Missense_Mutation_p.G380C|UNC5D_ENST00000420357.1_Missense_Mutation_p.G318C|UNC5D_ENST00000287272.2_Missense_Mutation_p.G329C|UNC5D_ENST00000416672.1_Missense_Mutation_p.G390C|UNC5D_ENST00000449677.1_5'Flank	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	385					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G380C(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTTGTACTCGGGCTTGGGTGC	0.522																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1153-1155)GGC>TGC		unc-5 homolog D precursor							250.0	221.0	231.0					8																	35579763		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35579763G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1153G>T	8.37:g.35579763G>T	ENSP00000385143:p.Gly385Cys					UNC5D_uc003xjs.1_Missense_Mutation_p.G380C|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.G143C	p.G385C	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1481	+			385			Helical; (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1153G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982971	0.74474	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.69685	0.12;0.07;0.26;-0.42;0.1	5.71	5.71	0.89125	.	0.043513	0.85682	D	0.000000	D	0.83677	0.5306	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85156	0.0989	10	0.87932	D	0	-22.8605	19.4428	0.94827	0.0:0.0:1.0:0.0	.	390;380;385	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	C	385;318;329;390;380	ENSP00000385143:G385C;ENSP00000392739:G318C;ENSP00000287272:G329C;ENSP00000412652:G390C;ENSP00000394303:G380C	ENSP00000287272:G329C	G	+	1	0	UNC5D	35699305	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	7.526000	0.81920	2.694000	0.91930	0.650000	0.86243	GGC		PASS	0.522	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			81	252	81	252	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39521396	39521396	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:39521396C>T	ENST00000265707.5	+	13	1358	c.1313C>T	c.(1312-1314)aCa>aTa	p.T438I	ADAM18_ENST00000379866.1_Missense_Mutation_p.T414I|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	438	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T438I(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CCATGTTGTACATCAAAGTGT	0.328																																						uc003xni.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(1312-1314)ACA>ATA		a disintegrin and metalloprotease domain 18							87.0	82.0	84.0					8																	39521396		2203	4299	6502	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39521396C>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1313C>T	8.37:g.39521396C>T	ENSP00000265707:p.Thr438Ile					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.T414I	p.T438I	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		13	1313	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	438			Disintegrin.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1313C>T	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052969	0.55218	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.12039	2.72;2.72	5.19	4.3	0.51218	Disintegrin, conserved site (1);Blood coagulation inhibitor, Disintegrin (5);	0.152498	0.31188	N	0.008100	T	0.32615	0.0835	M	0.85197	2.74	0.80722	D	1	D;D	0.55172	0.963;0.97	P;P	0.56788	0.706;0.806	T	0.10753	-1.0616	10	0.42905	T	0.14	.	10.2724	0.43491	0.0:0.9091:0.0:0.0909	.	414;438	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	I	438;414;370	ENSP00000265707:T438I;ENSP00000369195:T414I	ENSP00000265707:T438I	T	+	2	0	ADAM18	39640553	0.029000	0.19370	0.603000	0.28903	0.948000	0.59901	0.754000	0.26390	1.537000	0.49254	0.563000	0.77884	ACA		PASS	0.328	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		29	104	29	104	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52323863	52323863	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:52323863T>A	ENST00000356297.4	-	16	2109	c.2009A>T	c.(2008-2010)cAg>cTg	p.Q670L	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q670L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	670					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Q670L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCGTATCAGCTGCAGCGTGTG	0.522																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2008-2010)CAG>CTG		peroxidasin homolog-like precursor							58.0	59.0	59.0					8																	52323863		1994	4179	6173	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52323863T>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2009A>T	8.37:g.52323863T>A	ENSP00000348645:p.Gln670Leu					PXDNL_uc003xqt.3_5'Flank	p.Q670L	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			16	2110	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	670					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2009A>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	3.786	-0.044619	0.07452	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.65732	-0.15;-0.17	4.46	1.9	0.25705	.	.	.	.	.	T	0.42944	0.1225	L	0.35593	1.075	0.26004	N	0.982088	B	0.09022	0.002	B	0.06405	0.002	T	0.28554	-1.0040	9	0.08599	T	0.76	.	5.8454	0.18663	0.1743:0.0:0.1632:0.6625	.	670	A1KZ92	PXDNL_HUMAN	L	670	ENSP00000348645:Q670L;ENSP00000444865:Q670L	ENSP00000348645:Q670L	Q	-	2	0	PXDNL	52486416	1.000000	0.71417	0.002000	0.10522	0.671000	0.39405	3.488000	0.53229	0.079000	0.16929	0.533000	0.62120	CAG		PASS	0.522	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		8	11	8	11	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52733171	52733171	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:52733171C>A	ENST00000360540.5	-	7	1220	c.814G>T	c.(814-816)Gct>Tct	p.A272S	PCMTD1_ENST00000522514.1_Missense_Mutation_p.A272S|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A196S|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	272						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.A272S(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTGGGTGGAGCCCTTTGAGGA	0.423																																						uc003xqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(814-816)GCT>TCT		protein-L-isoaspartate (D-aspartate)							125.0	130.0	128.0					8																	52733171		2203	4298	6501	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733171C>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.814G>T	8.37:g.52733171C>A	ENSP00000353739:p.Ala272Ser					PCMTD1_uc011ldm.1_Missense_Mutation_p.A142S|PCMTD1_uc003xqw.3_Missense_Mutation_p.A272S|PCMTD1_uc011ldn.1_Missense_Mutation_p.A84S|PCMTD1_uc010lya.2_Missense_Mutation_p.A196S	p.A272S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1155	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	272					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.814G>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733565	0.48939	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.43294	0.95;0.95;0.95	5.77	5.77	0.91146	.	0.196363	0.49305	D	0.000158	T	0.42585	0.1209	L	0.43152	1.355	0.46011	D	0.998811	B;P;B	0.46142	0.361;0.873;0.005	B;P;B	0.46452	0.118;0.517;0.008	T	0.08534	-1.0717	10	0.20046	T	0.44	-3.8979	16.2524	0.82492	0.0:0.8674:0.1326:0.0	.	142;196;272	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	S	272;196;272	ENSP00000353739:A272S;ENSP00000444026:A196S;ENSP00000428099:A272S	ENSP00000353739:A272S	A	-	1	0	PCMTD1	52895724	0.961000	0.32948	0.974000	0.42286	0.996000	0.88848	2.095000	0.41729	2.722000	0.93159	0.655000	0.94253	GCT		PASS	0.423	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		10	383	10	383	---	---	---	---
TCEA1	6917	broad.mit.edu	37	8	54891624	54891624	+	Silent	SNP	T	T	A	rs374150495		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:54891624T>A	ENST00000521604.2	-	8	1189	c.786A>T	c.(784-786)acA>acT	p.T262T	TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000396401.3_Silent_p.T241T|TCEA1_ENST00000522635.1_Silent_p.T78T	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	262					DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T262T(1)|p.T78T(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATTTGCCACATGTGAACAAGT	0.383			T	PLAG1	salivary adenoma																																	uc003xru.2				Dom	yes		8	8q11.2	6917	T	"""transcription elongation factor A (SII), 1"""			E	PLAG1		salivary adenoma		2	Substitution - coding silent(2)		lung(2)		0						c.(784-786)ACA>ACT		transcription elongation factor A 1 isoform 1		T	,	1,3647		0,1,1823	82.0	75.0	77.0		786,723	-0.5	1.0	8		77	0,8150		0,0,4075	no	coding-synonymous,coding-synonymous	TCEA1	NM_006756.2,NM_201437.1	,	0,1,5898	AA,AT,TT		0.0,0.0274,0.0085	,	262/302,241/281	54891624	1,11797	1824	4075	5899	SO:0001819	synonymous_variant	6917				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding	g.chr8:54891624T>A	X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.786A>T	8.37:g.54891624T>A						TCEA1_uc003xrv.2_Silent_p.T241T|TCEA1_uc011ldw.1_Silent_p.T78T|TCEA1_uc010lyg.2_RNA	p.T262T	NM_006756	NP_006747	P23193	TCEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		8	1109	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	262			TFIIS-type.		A6NF25|A8K339|Q15563|Q6FG87	Silent	SNP	ENST00000521604.2	37	c.786A>T	CCDS47858.1																																																																																				PASS	0.383	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756		38	91	38	91	---	---	---	---
FAM110B	90362	broad.mit.edu	37	8	59059414	59059414	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:59059414G>C	ENST00000361488.3	+	5	1505	c.625G>C	c.(625-627)Gtg>Ctg	p.V209L	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	209						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V209L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGTGACCAGCGTGAAGCCCCT	0.657																																						uc003xtj.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(625-627)GTG>CTG		hypothetical protein LOC90362							70.0	68.0	69.0					8																	59059414		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059414G>C	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.625G>C	8.37:g.59059414G>C	ENSP00000355204:p.Val209Leu						p.V209L	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	1505	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	209					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.625G>C	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675495	0.29783	.	.	ENSG00000169122	ENST00000361488	T	0.28895	1.59	5.67	5.67	0.87782	.	0.355297	0.29040	N	0.013336	T	0.22085	0.0532	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.10314	-1.0635	9	.	.	.	-16.6251	14.9216	0.70843	0.0707:0.0:0.9293:0.0	.	209	Q8TC76	F110B_HUMAN	L	209	ENSP00000355204:V209L	.	V	+	1	0	FAM110B	59221968	0.614000	0.27017	0.500000	0.27589	0.995000	0.86356	3.742000	0.55097	2.676000	0.91093	0.561000	0.74099	GTG		PASS	0.657	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		37	120	37	120	---	---	---	---
COPS5	10987	broad.mit.edu	37	8	67971611	67971611	+	Silent	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:67971611C>G	ENST00000357849.4	-	2	533	c.213G>C	c.(211-213)tcG>tcC	p.S71S	COPS5_ENST00000519963.1_5'Flank|COPS5_ENST00000517736.1_Silent_p.S7S|AC109335.1_ENST00000578628.1_RNA|PPP1R42_ENST00000517834.1_5'Flank	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	71	MPN.				cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)	p.S71S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGTTGCCTCCCGATCTGGCAT	0.428																																						uc003xxe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(211-213)TCG>TCC		COP9 signalosome subunit 5							171.0	139.0	150.0					8																	67971611		2203	4300	6503	SO:0001819	synonymous_variant	10987				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity	g.chr8:67971611C>G	U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.213G>C	8.37:g.67971611C>G						COPS5_uc003xxd.2_Silent_p.S7S|COPS5_uc003xxf.2_Silent_p.S116S|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Silent_p.S71S	p.S71S	NM_006837	NP_006828	Q92905	CSN5_HUMAN	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)		2	544	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	71			MPN.		O15386|Q6AW95|Q86WQ4|Q9BQ17	Silent	SNP	ENST00000357849.4	37	c.213G>C	CCDS6198.1																																																																																				PASS	0.428	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			73	203	73	203	---	---	---	---
TRAM1	23471	broad.mit.edu	37	8	71520391	71520391	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:71520391C>A	ENST00000262213.2	-	1	213	c.44G>T	c.(43-45)aGc>aTc	p.S15I	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000521425.1_5'Flank|TRAM1_ENST00000536748.1_Intron|RP11-382J12.1_ENST00000499227.2_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	15					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S15I(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GAATTCGTGGCTCAGCACTGG	0.647																																					Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(43-45)AGC>ATC		translocation associated membrane protein 1							75.0	75.0	75.0					8																	71520391		2203	4300	6503	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71520391C>A	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.44G>T	8.37:g.71520391C>A	ENSP00000262213:p.Ser15Ile					TRAM1_uc011lfc.1_Intron	p.S15I	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		1	214	-			15			Cytoplasmic (Potential).		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.44G>T	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969985	0.92855	.	.	ENSG00000067167	ENST00000262213	T	0.49432	0.78	4.94	4.06	0.47325	.	0.174954	0.64402	D	0.000012	T	0.68265	0.2982	M	0.86178	2.8	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	T	0.73372	-0.4003	10	0.62326	D	0.03	-2.209	12.8494	0.57848	0.0:0.9191:0.0:0.0808	.	15	Q15629	TRAM1_HUMAN	I	15	ENSP00000262213:S15I	ENSP00000262213:S15I	S	-	2	0	TRAM1	71682945	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.930000	0.75858	1.065000	0.40693	0.563000	0.77884	AGC		PASS	0.647	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		36	95	36	95	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95511670	95511670	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:95511670T>A	ENST00000297591.5	-	17	4237	c.4162A>T	c.(4162-4164)Aag>Tag	p.K1388*	KIAA1429_ENST00000437199.1_Intron	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1388					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K1388*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CCTGTGTCCTTACTAAATGTG	0.318																																						uc003ygo.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4162-4164)AAG>TAG		hypothetical protein LOC25962 isoform 1							80.0	74.0	76.0					8																	95511670		2201	4300	6501	SO:0001587	stop_gained	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95511670T>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4162A>T	8.37:g.95511670T>A	ENSP00000297591:p.Lys1388*					KIAA1429_uc010maz.1_Intron	p.K1388*	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		17	4175	-	Breast(36;3.29e-05)		1388					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	c.4162A>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	44	10.869773	0.99481	.	.	ENSG00000164944	ENST00000297591	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2979	15.5478	0.76123	0.0:0.0:0.0:1.0	.	.	.	.	X	1388	.	ENSP00000297591:K1388X	K	-	1	0	KIAA1429	95580846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.260000	0.72502	2.070000	0.61991	0.460000	0.39030	AAG		PASS	0.318	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		17	46	17	46	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113275906	113275906	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:113275906C>T	ENST00000297405.5	-	61	10068	c.9824G>A	c.(9823-9825)gGg>gAg	p.G3275E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3235E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3205E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3106E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3275	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3235*(1)|p.G3275E(1)|p.G3275*(1)|p.G3235E(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						GGTACCATTCCCTACACAGGT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			4	Substitution - Missense(2)|Substitution - Nonsense(2)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9823-9825)GGG>GAG		CUB and Sushi multiple domains 3 isoform 1							97.0	83.0	88.0					8																	113275906		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113275906C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9824G>A	8.37:g.113275906C>T	ENSP00000297405:p.Gly3275Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2477E|CSMD3_uc003ynt.2_Missense_Mutation_p.G3235E|CSMD3_uc011lhx.1_Missense_Mutation_p.G3106E	p.G3275E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			61	9983	-			3275			Sushi 25.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9824G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413239	0.83449	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.068751	0.56097	D	0.000023	T	0.64023	0.2561	N	0.20328	0.56	0.53688	D	0.999974	D;P;P	0.61697	0.99;0.702;0.93	D;P;P	0.69479	0.964;0.679;0.734	T	0.55127	-0.8189	10	0.02654	T	1	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	3106;3275;3235	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	3235;3275;2545;3106;3205	ENSP00000345799:G3235E;ENSP00000297405:G3275E;ENSP00000341558:G2545E;ENSP00000412263:G3106E;ENSP00000343124:G3205E	ENSP00000297405:G3275E	G	-	2	0	CSMD3	113345082	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.090000	0.64498	2.713000	0.92767	0.655000	0.94253	GGG		PASS	0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	70	21	70	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113657367	113657367	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:113657367G>T	ENST00000297405.5	-	20	3525	c.3281C>A	c.(3280-3282)aCa>aAa	p.T1094K	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1054K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1094K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T990K|MIR2053_ENST00000459295.1_RNA	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1094	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1054K(2)|p.T1094K(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACAGTCCATGTACAATTCAG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			4	Substitution - Missense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3280-3282)ACA>AAA		CUB and Sushi multiple domains 3 isoform 1							95.0	94.0	95.0					8																	113657367		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113657367G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3281C>A	8.37:g.113657367G>T	ENSP00000297405:p.Thr1094Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T366K|CSMD3_uc003ynt.2_Missense_Mutation_p.T1054K|CSMD3_uc011lhx.1_Missense_Mutation_p.T990K	p.T1094K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			20	3440	-			1094			Extracellular (Potential).|CUB 6.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3281C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743214	0.89663	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.78	5.78	0.91487	CUB (5);	0.067180	0.56097	D	0.000021	T	0.53562	0.1804	M	0.82517	2.595	0.47584	D	0.999464	P;P;B	0.50156	0.917;0.932;0.278	P;P;B	0.54431	0.637;0.752;0.22	T	0.45644	-0.9247	10	0.22706	T	0.39	.	20.3754	0.98918	0.0:0.0:1.0:0.0	.	990;1094;1054	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1054;1094;434;990;1094	ENSP00000345799:T1054K;ENSP00000297405:T1094K;ENSP00000341558:T434K;ENSP00000412263:T990K;ENSP00000343124:T1094K	ENSP00000297405:T1094K	T	-	2	0	CSMD3	113726543	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	9.778000	0.99011	2.894000	0.99253	0.591000	0.81541	ACA		PASS	0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	88	26	88	---	---	---	---
TG	7038	broad.mit.edu	37	8	133899310	133899310	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:133899310C>G	ENST00000220616.4	+	9	1733	c.1693C>G	c.(1693-1695)Ctc>Gtc	p.L565V	TG_ENST00000377869.1_Missense_Mutation_p.L565V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	565					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.L565V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAAAATGCCCTCAAATTCCT	0.448																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(1693-1695)CTC>GTC		thyroglobulin precursor							97.0	93.0	94.0					8																	133899310		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899310C>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1693C>G	8.37:g.133899310C>G	ENSP00000220616:p.Leu565Val						p.L565V	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1734	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	565					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.1693C>G	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	2.346	-0.349924	0.05173	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.62639	0.01;0.01	5.21	-1.97	0.07503	.	0.692549	0.13085	N	0.414974	T	0.31702	0.0805	N	0.12746	0.255	0.09310	N	1	B	0.29188	0.236	B	0.24848	0.056	T	0.12811	-1.0533	10	0.36615	T	0.2	.	0.1939	0.00137	0.2382:0.2022:0.215:0.3445	.	565	P01266	THYG_HUMAN	V	565	ENSP00000367100:L565V;ENSP00000220616:L565V	ENSP00000220616:L565V	L	+	1	0	TG	133968492	0.002000	0.14202	0.249000	0.24280	0.702000	0.40608	-0.140000	0.10342	-0.262000	0.09392	0.650000	0.86243	CTC		PASS	0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		55	170	55	170	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144996487	144996487	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:144996487C>A	ENST00000322810.4	-	32	8082	c.7913G>T	c.(7912-7914)aGc>aTc	p.S2638I	PLEC_ENST00000527096.1_Missense_Mutation_p.S2524I|PLEC_ENST00000357649.2_Missense_Mutation_p.S2505I|PLEC_ENST00000398774.2_Missense_Mutation_p.S2469I|PLEC_ENST00000354589.3_Missense_Mutation_p.S2501I|PLEC_ENST00000354958.2_Missense_Mutation_p.S2479I|PLEC_ENST00000356346.3_Missense_Mutation_p.S2487I|PLEC_ENST00000436759.2_Missense_Mutation_p.S2528I|PLEC_ENST00000345136.3_Missense_Mutation_p.S2501I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2638	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.S2528I(1)|p.S2501I(1)|p.S2638I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGTAGCAGGCTGTCCTTTTC	0.607																																						uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(7912-7914)AGC>ATC		plectin isoform 1							23.0	26.0	25.0					8																	144996487		2116	4221	6337	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996487C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7913G>T	8.37:g.144996487C>A	ENSP00000323856:p.Ser2638Ile					PLEC_uc003zab.1_Missense_Mutation_p.S2501I|PLEC_uc003zac.1_Missense_Mutation_p.S2505I|PLEC_uc003zad.2_Missense_Mutation_p.S2501I|PLEC_uc003zae.1_Missense_Mutation_p.S2469I|PLEC_uc003zag.1_Missense_Mutation_p.S2479I|PLEC_uc003zah.2_Missense_Mutation_p.S2487I|PLEC_uc003zaj.2_Missense_Mutation_p.S2528I	p.S2638I	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	8083	-			2638			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7913G>T	CCDS43772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	3.969|3.969	-0.008784|-0.008784	0.07727|0.07727	.|.	.|.	ENSG00000178209|ENSG00000178209	ENST00000527303|ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.|T;T;T;T;T;T;T;T;T	.|0.79845	.|-1.28;-1.28;-1.31;-1.31;-1.29;-1.27;-1.27;-1.27;-1.27	4.38|4.38	3.49|3.49	0.39957|0.39957	.|.	.|0.796041	.|0.11095	.|U	.|0.600339	T|T	0.67154|0.67154	0.2863|0.2863	N|N	0.21448|0.21448	0.665|0.665	0.26267|0.26267	N|N	0.978486|0.978486	.|B;B;B;B;B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B;B;B	.|0.04013	.|0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T|T	0.55211|0.55211	-0.8176|-0.8176	5|10	.|0.35671	.|T	.|0.21	.|.	7.385|7.385	0.26878|0.26878	0.2859:0.4216:0.2925:0.0|0.2859:0.4216:0.2925:0.0	.|.	.|2528;2487;2479;2638;2469;2501;2505;2501	.|Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.|.;.;.;PLEC_HUMAN;.;.;.;.	S|I	71|2501;2505;2501;2469;2638;2479;2487;2528;2524	.|ENSP00000344848:S2501I;ENSP00000350277:S2505I;ENSP00000346602:S2501I;ENSP00000381756:S2469I;ENSP00000323856:S2638I;ENSP00000347044:S2479I;ENSP00000348702:S2487I;ENSP00000388180:S2528I;ENSP00000434583:S2524I	.|ENSP00000323856:S2638I	A|S	-|-	1|2	0|0	PLEC|PLEC	145068475|145068475	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.388000|0.388000	0.30384|0.30384	1.201000|1.201000	0.32259|0.32259	1.064000|1.064000	0.40671|0.40671	0.443000|0.443000	0.29094|0.29094	GCC|AGC		PASS	0.607	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		30	59	30	59	---	---	---	---
SLC52A2	79581	broad.mit.edu	37	8	145584541	145584541	+	Missense_Mutation	SNP	C	C	T	rs371806077		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:145584541C>T	ENST00000532887.1	+	5	1787	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	SLC52A2_ENST00000526752.1_Missense_Mutation_p.P70L|SLC52A2_ENST00000329994.2_Missense_Mutation_p.R402W|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.R402W|SLC52A2_ENST00000540505.1_Missense_Mutation_p.R314W|SLC52A2_ENST00000530047.1_Missense_Mutation_p.R402W|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000527078.1_Missense_Mutation_p.R402W			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	402					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)	p.R402W(1)								Gamma Hydroxybutyric Acid(DB01440)	TGGCGGGGGCCGGCCGGCATT	0.657																																						uc003zcc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1204-1206)CGG>TGG		G protein-coupled receptor 172A precursor		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	61.0	63.0		1204	4.4	0.0	8		63	0,8598		0,0,4299	no	missense	GPR172A	NM_024531.3	101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	402/446	145584541	1,13003	2203	4299	6502	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584541C>T	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1204C>T	8.37:g.145584541C>T	ENSP00000436768:p.Arg402Trp					FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.R402W|GPR172A_uc003zce.1_Missense_Mutation_p.R402W|GPR172A_uc010mfy.1_Missense_Mutation_p.R402W|GPR172A_uc003zcf.1_Missense_Mutation_p.R402W|GPR172A_uc011llc.1_Missense_Mutation_p.R314W	p.R402W	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		5	1361	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		402					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.1204C>T	CCDS6423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.78|15.78	2.933119|2.933119	0.52866|0.52866	2.27E-4|2.27E-4	0.0|0.0	ENSG00000185803|ENSG00000185803	ENST00000526752|ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	D|T;T;T;T;T;T	0.89485|0.75938	-2.52|-0.98;-0.98;-0.98;-0.98;-0.98;-0.76	5.25|5.25	4.38|4.38	0.52667|0.52667	.|.	.|0.292883	.|0.32901	.|N	.|0.005510	T|T	0.71013|0.71013	0.3290|0.3290	L|L	0.55990|0.55990	1.75|1.75	0.32215|0.32215	N|N	0.576063|0.576063	.|D	.|0.65815	.|0.995	.|P	.|0.44860	.|0.462	T|T	0.78858|0.78858	-0.2038|-0.2038	7|10	0.87932|0.72032	D|D	0|0.01	.|.	11.5585|11.5585	0.50764|0.50764	0.0:0.9126:0.0:0.0874|0.0:0.9126:0.0:0.0874	.|.	.|402	.|Q9HAB3	.|RFT3_HUMAN	L|W	70|402;402;402;402;402;314	ENSP00000433796:P70L|ENSP00000435820:R402W;ENSP00000434728:R402W;ENSP00000385961:R402W;ENSP00000436768:R402W;ENSP00000333638:R402W;ENSP00000440400:R314W	ENSP00000433796:P70L|ENSP00000333638:R402W	P|R	+|+	2|1	0|2	GPR172A|GPR172A	145555349|145555349	0.289000|0.289000	0.24334|0.24334	0.005000|0.005000	0.12908|0.12908	0.260000|0.260000	0.26232|0.26232	4.548000|4.548000	0.60718|0.60718	1.240000|1.240000	0.43803|0.43803	0.456000|0.456000	0.33151|0.33151	CCG|CGG		PASS	0.657	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		18	37	18	37	---	---	---	---
SLC39A4	55630	broad.mit.edu	37	8	145640760	145640760	+	Missense_Mutation	SNP	G	G	T	rs141890870	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr8:145640760G>T	ENST00000301305.3	-	3	623	c.518C>A	c.(517-519)gCg>gAg	p.A173E	SLC39A4_ENST00000276833.5_Missense_Mutation_p.A148E|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	173					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.A173E(1)|p.A148E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGGAGCCCCCGCCCCCACCGC	0.682																																						uc003zcq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(517-519)GCG>GAG		solute carrier family 39 (zinc transporter),							16.0	18.0	17.0					8																	145640760		2192	4282	6474	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145640760G>T	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.518C>A	8.37:g.145640760G>T	ENSP00000301305:p.Ala173Glu					SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_Splice_Site|SLC39A4_uc003zcp.2_Missense_Mutation_p.A148E	p.A173E	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		3	618	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		173			Extracellular (Potential).		Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.518C>A	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138763	0.56936	.	.	ENSG00000147804	ENST00000276833;ENST00000301305;ENST00000526658	T;T;T	0.56941	0.43;0.43;0.43	5.05	2.2	0.27929	.	0.791388	0.11388	N	0.569127	T	0.37348	0.1000	L	0.32530	0.975	0.09310	N	1	P;P	0.44429	0.835;0.835	B;B	0.40602	0.334;0.334	T	0.11299	-1.0593	10	0.25751	T	0.34	-0.4314	5.658	0.17652	0.1745:0.0:0.6589:0.1666	.	173;148	Q6P5W5;A6NDY5	S39A4_HUMAN;.	E	148;173;79	ENSP00000276833:A148E;ENSP00000301305:A173E;ENSP00000434512:A79E	ENSP00000276833:A148E	A	-	2	0	SLC39A4	145611568	0.011000	0.17503	0.001000	0.08648	0.011000	0.07611	1.227000	0.32576	0.153000	0.19213	0.456000	0.33151	GCG		PASS	0.682	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			6	16	6	16	---	---	---	---
RIC1	57589	broad.mit.edu	37	9	5763163	5763163	+	Silent	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:5763163A>G	ENST00000414202.2	+	19	2327	c.2136A>G	c.(2134-2136)gtA>gtG	p.V712V	KIAA1432_ENST00000381532.2_Silent_p.V633V|KIAA1432_ENST00000418622.3_Silent_p.V633V|KIAA1432_ENST00000449720.2_Silent_p.V596V|KIAA1432_ENST00000251879.6_Silent_p.V712V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.V633V(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTCCTGTTGTACTAGCCCAGT	0.468																																						uc003zji.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1897-1899)GTA>GTG		connexin 43-interacting protein 150 isoform a							101.0	81.0	88.0					9																	5763163		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5763163A>G																												ENST00000414202.2:c.2136A>G	9.37:g.5763163A>G						KIAA1432_uc003zjh.2_Silent_p.V633V|KIAA1432_uc003zjl.3_Silent_p.V596V|KIAA1432_uc003zjj.1_Silent_p.V175V	p.V633V	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	18	1992	+		Acute lymphoblastic leukemia(23;0.154)	712						Silent	SNP	ENST00000414202.2	37	c.1899A>G	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	A	8.231	0.804633	0.16467	.	.	ENSG00000107036	ENST00000545641	.	.	.	5.78	-0.66	0.11421	.	.	.	.	.	T	0.43233	0.1238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24083	-1.0170	4	.	.	.	-11.8699	3.5158	0.07725	0.28:0.4271:0.1949:0.0981	.	.	.	.	A	604	.	.	T	+	1	0	KIAA1432	5753163	0.940000	0.31905	0.994000	0.49952	0.987000	0.75469	0.053000	0.14184	-0.113000	0.11958	0.459000	0.35465	ACT		PASS	0.468	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			40	123	40	123	---	---	---	---
ACER2	340485	broad.mit.edu	37	9	19446415	19446415	+	Splice_Site	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:19446415T>A	ENST00000340967.2	+	5	666	c.640T>A	c.(640-642)Tgg>Agg	p.W214R		NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	214					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)	p.W214R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						GCACTGCATGTGGTAAGCCCC	0.602																																						uc003zny.1																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(640-642)TGG>AGG		alkaline ceramidase 2							94.0	80.0	84.0					9																	19446415		2203	4300	6503	SO:0001630	splice_region_variant	340485				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	g.chr9:19446415T>A	AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"""Alkaline ceramidase"""	23675	protein-coding gene	gene with protein product		613492	"""N-acylsphingosine amidohydrolase 3-like"""	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.641+1T>A	9.37:g.19446415T>A						ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.W165R	p.W214R	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN			5	798	+			214			Helical; (Potential).		A2A3R8|Q569G5|Q5VZR7|Q71RD2	Missense_Mutation	SNP	ENST00000340967.2	37	c.640T>A	CCDS34992.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.702572	0.88924	.	.	ENSG00000177076	ENST00000340967	T	0.67345	-0.26	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84653	0.0702	9	.	.	.	.	15.0672	0.72005	0.0:0.0:0.0:1.0	.	214	Q5QJU3	ACER2_HUMAN	R	214	ENSP00000342609:W214R	.	W	+	1	0	ACER2	19436415	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.892000	0.87324	2.024000	0.59613	0.482000	0.46254	TGG		PASS	0.602	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540	Missense_Mutation	65	174	65	174	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35045314	35045314	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:35045314C>G	ENST00000312292.5	+	2	2735	c.2688C>G	c.(2686-2688)agC>agG	p.S896R	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.S848R|C9orf131_ENST00000354479.5_Missense_Mutation_p.S823R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	896								p.S896R(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGATGGTGAGCCAGGTCCCAT	0.552																																						uc003zvw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2686-2688)AGC>AGG		hypothetical protein LOC138724 isoform A							180.0	182.0	181.0					9																	35045314		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35045314C>G	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2688C>G	9.37:g.35045314C>G	ENSP00000308279:p.Ser896Arg					C9orf131_uc003zvu.2_Missense_Mutation_p.S848R|C9orf131_uc003zvv.2_Missense_Mutation_p.S823R|C9orf131_uc003zvx.2_Missense_Mutation_p.S861R	p.S896R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2717	+	all_epithelial(49;0.22)		896					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2688C>G	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722358	0.48728	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.15139	2.45;2.45;2.45	4.19	1.14	0.20703	.	1.153310	0.06461	N	0.729419	T	0.16300	0.0392	L	0.50333	1.59	0.09310	N	1	P;B;B;B	0.41910	0.764;0.263;0.263;0.263	B;B;B;B	0.42245	0.381;0.044;0.044;0.044	T	0.24657	-1.0154	10	0.16420	T	0.52	0.3302	4.464	0.11680	0.0:0.6031:0.1844:0.2124	.	371;896;823;848	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	R	848;823;896;371	ENSP00000393683:S848R;ENSP00000346472:S823R;ENSP00000308279:S896R	ENSP00000308279:S896R	S	+	3	2	C9orf131	35035314	0.000000	0.05858	0.007000	0.13788	0.321000	0.28281	0.024000	0.13555	0.124000	0.18369	0.563000	0.77884	AGC		PASS	0.552	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		118	379	118	379	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35095564	35095564	+	Splice_Site	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:35095564C>A	ENST00000378617.3	-	2	394		c.e2-1		RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000341666.3_Splice_Site|PIGO_ENST00000492770.1_Splice_Site|PIGO_ENST00000298004.5_Splice_Site|PIGO_ENST00000361778.2_Splice_Site	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTTCTGCATCCTGATAGGGGT	0.527																																						uc003zwd.2																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.e2-1		phosphatidylinositol glycan anchor biosynthesis,							17.0	17.0	17.0					9																	35095564		2201	4297	6498	SO:0001630	splice_region_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35095564C>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1-1G>T	9.37:g.35095564C>A						PIGO_uc003zwc.1_Translation_Start_Site|PIGO_uc003zwe.2_Splice_Site|PIGO_uc003zwf.2_Splice_Site|PIGO_uc003zwg.1_Splice_Site		NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	396	-								B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Splice_Site	SNP	ENST00000378617.3	37	c.0_splice	CCDS6575.1																																																																																				PASS	0.527	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634	Intron	13	41	13	41	---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95797692	95797692	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:95797692G>T	ENST00000375482.3	+	18	2495	c.1999G>T	c.(1999-2001)Gac>Tac	p.D667Y	FGD3_ENST00000416701.2_Missense_Mutation_p.D666Y|FGD3_ENST00000538555.1_Missense_Mutation_p.D270Y|FGD3_ENST00000337352.6_Missense_Mutation_p.D667Y	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	667	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.D667Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGAGAGGCTGGACTCGGGGCA	0.657																																						uc004asw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1999-2001)GAC>TAC		FYVE, RhoGEF and PH domain containing 3							28.0	37.0	34.0					9																	95797692		2145	4260	6405	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95797692G>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1999G>T	9.37:g.95797692G>T	ENSP00000364631:p.Asp667Tyr					FGD3_uc004asx.2_Missense_Mutation_p.D666Y|FGD3_uc004asz.2_Missense_Mutation_p.D667Y|FGD3_uc011luc.1_Missense_Mutation_p.D270Y	p.D667Y	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN			18	2627	+			667			PH 2.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1999G>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494787	0.44352	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.76186	-0.96;-0.92;-0.96;-1.0	4.52	0.338	0.15974	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.914504	0.09008	N	0.861926	T	0.80486	0.4632	M	0.70595	2.14	0.09310	N	1	D;D	0.76494	0.995;0.999	P;D	0.67231	0.861;0.95	T	0.64795	-0.6323	10	0.87932	D	0	.	1.8374	0.03143	0.1877:0.1588:0.4901:0.1633	.	666;667	F8W7P2;Q5JSP0	.;FGD3_HUMAN	Y	667;666;667;270	ENSP00000364631:D667Y;ENSP00000413833:D666Y;ENSP00000336914:D667Y;ENSP00000442560:D270Y	ENSP00000336914:D667Y	D	+	1	0	FGD3	94837513	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	1.081000	0.30791	-0.037000	0.13646	0.561000	0.74099	GAC		PASS	0.657	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		9	11	9	11	---	---	---	---
MUSK	4593	broad.mit.edu	37	9	113547183	113547183	+	Silent	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:113547183A>G	ENST00000374448.4	+	12	1607	c.1473A>G	c.(1471-1473)acA>acG	p.T491T	MUSK_ENST00000374438.1_Intron|MUSK_ENST00000189978.5_Silent_p.T491T|MUSK_ENST00000416899.2_Silent_p.T483T	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	491					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T491T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCTCACCTACATACTCCATGA	0.428																																						uc004bey.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1471-1473)ACA>ACG		skeletal muscle receptor tyrosine kinase							162.0	163.0	162.0					9																	113547183		1961	4137	6098	SO:0001819	synonymous_variant	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547183A>G	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1473A>G	9.37:g.113547183A>G						MUSK_uc004bez.1_Silent_p.T71T	p.T491T	NM_005592	NP_005583	O15146	MUSK_HUMAN			11	1571	+			491			Extracellular (Potential).		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	ENST00000374448.4	37	c.1473A>G	CCDS48005.1																																																																																				PASS	0.428	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				62	127	62	127	---	---	---	---
UGCG	7357	broad.mit.edu	37	9	114685132	114685132	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:114685132G>C	ENST00000374279.3	+	3	694	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	82					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)	p.E82Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TGACTAGTATGAAGTGCTCCT	0.313																																						uc004bft.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(244-246)GAA>CAA		ceramide glucosyltransferase	Miglustat(DB00419)						117.0	108.0	111.0					9																	114685132		2203	4298	6501	SO:0001583	missense	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114685132G>C	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.244G>C	9.37:g.114685132G>C	ENSP00000363397:p.Glu82Gln						p.E82Q	NM_003358	NP_003349	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	3	534	+			82			Cytoplasmic (Potential).		Q5T258	Missense_Mutation	SNP	ENST00000374279.3	37	c.244G>C	CCDS6782.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062709	0.93898	.	.	ENSG00000148154	ENST00000374279	T	0.72615	-0.67	5.98	5.98	0.97165	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	L	0.33624	1.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71286	-0.4638	10	0.20519	T	0.43	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	82	Q16739	CEGT_HUMAN	Q	82	ENSP00000363397:E82Q	ENSP00000363397:E82Q	E	+	1	0	UGCG	113724953	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.198000	0.94994	2.837000	0.97791	0.591000	0.81541	GAA		PASS	0.313	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		28	68	28	68	---	---	---	---
PTBP3	9991	broad.mit.edu	37	9	115038169	115038169	+	Silent	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:115038169T>C	ENST00000374255.2	-	4	390	c.243A>G	c.(241-243)ccA>ccG	p.P81P	PTBP3_ENST00000458258.1_Silent_p.P87P|PTBP3_ENST00000343327.2_Intron|PTBP3_ENST00000334318.6_Silent_p.P84P|PTBP3_ENST00000374257.1_Silent_p.P53P|PTBP3_ENST00000487997.1_Intron			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	81	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P81P(1)									CTTTGCCAAATGGTAGACCTA	0.373																																						uc004bfw.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(241-243)CCA>CCG		ROD1 regulator of differentiation 1 isoform 1							112.0	108.0	110.0					9																	115038169		2203	4300	6503	SO:0001819	synonymous_variant	9991				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr9:115038169T>C	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.243A>G	9.37:g.115038169T>C						ROD1_uc004bfv.2_Silent_p.P87P|ROD1_uc004bfx.2_Silent_p.P84P|ROD1_uc011lwu.1_Silent_p.P53P|ROD1_uc004bfy.2_Intron|ROD1_uc004bfz.2_Silent_p.P53P	p.P81P	NM_005156	NP_005147	O95758	ROD1_HUMAN			4	430	-			81			RRM 1.		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Silent	SNP	ENST00000374255.2	37	c.243A>G	CCDS6784.1																																																																																				PASS	0.373	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1			49	93	49	93	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119202971	119202971	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:119202971C>T	ENST00000313400.4	-	22	3799	c.3699G>A	c.(3697-3699)ctG>ctA	p.L1233L	ASTN2_ENST00000373996.3_Silent_p.L1229L|ASTN2_ENST00000341734.4_Silent_p.L285L|ASTN2_ENST00000361477.3_Silent_p.L285L|ASTN2_ENST00000361209.2_Silent_p.L1182L|ASTN2_ENST00000288520.5_Silent_p.L334L			O75129	ASTN2_HUMAN	astrotactin 2	1233					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.L1182L(1)|p.L285L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGACTCGGAACAGCATCGAGG	0.498																																						uc004bjs.1																			2	Substitution - coding silent(2)		lung(2)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(3697-3699)CTG>CTA		astrotactin 2 isoform c							179.0	143.0	155.0					9																	119202971		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119202971C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3699G>A	9.37:g.119202971C>T						ASTN2_uc004bjr.1_Silent_p.L1229L|ASTN2_uc004bjt.1_Silent_p.L1182L|ASTN2_uc004bjp.1_Silent_p.L326L|ASTN2_uc004bjq.1_Silent_p.L285L|ASTN2_uc011lxr.1_Silent_p.L285L|ASTN2_uc011lxs.1_Silent_p.L285L|ASTN2_uc011lxt.1_Silent_p.L285L|ASTN2_uc004bjo.1_Silent_p.L14L	p.L1233L	NM_198187	NP_937830	O75129	ASTN2_HUMAN			22	3800	-			1233			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.3699G>A		.	.	.	.	.	.	.	.	.	.	C	9.044	0.990352	0.18966	.	.	ENSG00000148219	ENST00000417725	.	.	.	5.91	-2.91	0.05631	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47661	-0.9100	4	.	.	.	-15.7773	6.5273	0.22309	0.2762:0.2438:0.419:0.061	.	.	.	.	Y	15	.	.	C	-	2	0	ASTN2	118242792	0.456000	0.25744	0.995000	0.50966	0.995000	0.86356	-0.272000	0.08560	-0.128000	0.11641	-0.165000	0.13383	TGT		PASS	0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		54	93	54	93	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119738430	119738430	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:119738430G>T	ENST00000313400.4	-	9	1814	c.1714C>A	c.(1714-1716)Ctg>Atg	p.L572M	ASTN2_ENST00000361477.3_De_novo_Start_InFrame|ASTN2_ENST00000373996.3_Missense_Mutation_p.L572M|ASTN2_ENST00000361209.2_Missense_Mutation_p.L521M			O75129	ASTN2_HUMAN	astrotactin 2	572					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.L521M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCTGTCACCAGATCATAGCCC	0.488																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1714-1716)CTG>ATG		astrotactin 2 isoform c							92.0	83.0	86.0					9																	119738430		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119738430G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1714C>A	9.37:g.119738430G>T	ENSP00000314038:p.Leu572Met					ASTN2_uc004bjr.1_Missense_Mutation_p.L572M|ASTN2_uc004bjt.1_Missense_Mutation_p.L521M	p.L572M	NM_198187	NP_937830	O75129	ASTN2_HUMAN			9	1815	-			572			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1714C>A		.	.	.	.	.	.	.	.	.	.	G	15.29	2.790501	0.50102	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.20332	2.08;2.25;2.09;2.16	5.64	3.68	0.42216	.	0.000000	0.64402	D	0.000004	T	0.27559	0.0677	L	0.29908	0.895	0.47153	D	0.999332	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.974;0.996;0.992	T	0.04495	-1.0947	9	.	.	.	-12.7622	5.6136	0.17418	0.4107:0.0:0.5893:0.0	.	521;572;572	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	M	572;572;299;521	ENSP00000314038:L572M;ENSP00000363108:L572M;ENSP00000363098:L299M;ENSP00000354504:L521M	.	L	-	1	2	ASTN2	118778251	1.000000	0.71417	0.985000	0.45067	0.933000	0.57130	1.758000	0.38410	1.250000	0.43966	0.655000	0.94253	CTG		PASS	0.488	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		22	39	22	39	---	---	---	---
OR1K1	392392	broad.mit.edu	37	9	125563091	125563091	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:125563091C>A	ENST00000277309.2	+	1	722	c.690C>A	c.(688-690)ccC>ccA	p.P230P		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P230P(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCCAGCTGCCCTCAGCCTCTG	0.637																																						uc011lze.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(688-690)CCC>CCA		olfactory receptor, family 1, subfamily K,							53.0	50.0	51.0					9																	125563091		2203	4300	6503	SO:0001819	synonymous_variant	392392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563091C>A	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.690C>A	9.37:g.125563091C>A							p.P230P	NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN			1	690	+			230			Cytoplasmic (Potential).		B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	c.690C>A	CCDS35132.1																																																																																				PASS	0.637	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			25	52	25	52	---	---	---	---
NR5A1	2516	broad.mit.edu	37	9	127245163	127245163	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:127245163C>T	ENST00000373588.4	-	7	1456	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	420	Important for dimerization.				adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L420L(1)		lung(1)|upper_aerodigestive_tract(1)	2						CCAGGCACAGCAGCAGCTGCT	0.617																																						uc004boo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1258-1260)CTG>CTA		nuclear receptor subfamily 5, group A, member 1							87.0	72.0	77.0					9																	127245163		2203	4300	6503	SO:0001819	synonymous_variant	2516				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr9:127245163C>T	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"""Nuclear hormone receptors"""	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.1260G>A	9.37:g.127245163C>T							p.L420L	NM_004959	NP_004950	Q13285	STF1_HUMAN			7	1447	-			420			Important for dimerization.		O15196|Q5T6F5	Silent	SNP	ENST00000373588.4	37	c.1260G>A	CCDS6856.1																																																																																				PASS	0.617	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		15	42	15	42	---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128099688	128099688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:128099688C>T	ENST00000495955.1	+	17	2985	c.2695C>T	c.(2695-2697)Cga>Tga	p.R899*	GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R878*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R899*|GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.R899*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R878*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R926*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R899*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R873*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	899					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R926*(2)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						gAGACTAGTTCGAAGCAGGAG	0.507																																						uc010mwx.2																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2695-2697)CGA>TGA		GTPase activating protein and VPS9 domains 1							82.0	80.0	81.0					9																	128099688		2203	4300	6503	SO:0001587	stop_gained	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099688C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2695C>T	9.37:g.128099688C>T	ENSP00000419063:p.Arg899*					GAPVD1_uc011lzs.1_Nonsense_Mutation_p.R899*|GAPVD1_uc004bpp.2_Nonsense_Mutation_p.R926*|GAPVD1_uc004bpq.2_Nonsense_Mutation_p.R899*|GAPVD1_uc004bpr.2_Nonsense_Mutation_p.R878*|GAPVD1_uc004bps.2_Nonsense_Mutation_p.R899*|GAPVD1_uc010mwy.1_Nonsense_Mutation_p.R732*	p.R899*	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			17	3021	+			899					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	ENST00000495955.1	37	c.2695C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.594972|8.594972	0.98877|0.98877	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80116	.|0.4564	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77003	.|-0.2749	.|3	0.07813|.	T|.	0.8|.	.|.	19.8676|19.8676	0.96824|0.96824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	899;926;899;873;878;899;899;899;878|735	.|.	ENSP00000265956:R873X|.	R|S	+|+	1|2	2|0	GAPVD1|GAPVD1	127139509|127139509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.641000|5.641000	0.67881|0.67881	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGA|TCG		PASS	0.507	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			38	93	38	93	---	---	---	---
TTC16	158248	broad.mit.edu	37	9	130479668	130479668	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:130479668C>T	ENST00000373289.3	+	3	327	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000543175.1_5'Flank|PTRH1_ENST00000423807.1_5'Flank|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	83								p.L83F(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCTGTGCTGCTCTTCTCCCG	0.642																																						uc004brq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)CTC>TTC		tetratricopeptide repeat domain 16							59.0	48.0	52.0					9																	130479668		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130479668C>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.247C>T	9.37:g.130479668C>T	ENSP00000362386:p.Leu83Phe					PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'Flank|PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.L83F|TTC16_uc004brr.1_Missense_Mutation_p.L76F|TTC16_uc010mxn.1_5'Flank	p.L83F	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			3	314	+			83			TPR 1.		B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.247C>T	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.916186	0.00503	.	.	ENSG00000167094	ENST00000373289;ENST00000316259	T	0.60424	0.19	4.97	2.49	0.30216	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.526156	0.19335	N	0.116820	T	0.20536	0.0494	N	0.00996	-1.065	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.05517	-1.0880	10	0.09590	T	0.72	-19.1571	5.4081	0.16332	0.0:0.0946:0.1735:0.732	.	83;83;83	B4DZ42;B4DH05;Q8NEE8	.;.;TTC16_HUMAN	F	83;76	ENSP00000362386:L83F	ENSP00000319048:L76F	L	+	1	0	TTC16	129519489	0.957000	0.32711	0.911000	0.35937	0.027000	0.11550	2.061000	0.41403	0.742000	0.32697	-0.870000	0.02990	CTC		PASS	0.642	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		29	35	29	35	---	---	---	---
C9orf78	51759	broad.mit.edu	37	9	132593188	132593188	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr9:132593188C>G	ENST00000372447.3	-	6	557	c.504G>C	c.(502-504)caG>caC	p.Q168H	C9orf78_ENST00000461762.1_5'UTR	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	168						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q168H(1)		kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				CACTCAGCATCTGGTTGGAAA	0.473																																						uc004byp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)CAG>CAC		chromosome 9 open reading frame 78							167.0	130.0	143.0					9																	132593188		2203	4300	6503	SO:0001583	missense	51759							g.chr9:132593188C>G	BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.504G>C	9.37:g.132593188C>G	ENSP00000361524:p.Gln168His					C9orf78_uc004byo.2_Missense_Mutation_p.Q93H|C9orf78_uc004byq.1_Missense_Mutation_p.Q114H	p.Q168H	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN			6	576	-		Ovarian(14;0.00556)	168					B3KPX8|Q8WVU6|Q9NT39	Missense_Mutation	SNP	ENST00000372447.3	37	c.504G>C	CCDS6931.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365651	0.82463	.	.	ENSG00000136819	ENST00000372447;ENST00000435276	T	0.51817	0.69	5.48	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.67841	-0.5566	10	0.42905	T	0.14	.	13.1587	0.59533	0.0:0.924:0.0:0.076	.	93;168;89	E7EVT7;Q9NZ63;Q6GVN4	.;CI078_HUMAN;.	H	168;93	ENSP00000361524:Q168H	ENSP00000361524:Q168H	Q	-	3	2	C9orf78	131633009	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.597000	0.54031	1.324000	0.45282	0.555000	0.69702	CAG		PASS	0.473	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054625.1	NM_016520		28	43	28	43	---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1405819	1405819	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:1405819C>A	ENST00000381312.1	-	3	806	c.481G>T	c.(481-483)Gag>Tag	p.E161*	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	161	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.E161*(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCGTTCACCTCCACCGCTACC	0.677																																						uc009xhq.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(481-483)GAG>TAG		adenosine deaminase, RNA-specific, B2							38.0	33.0	35.0					10																	1405819		2202	4300	6502	SO:0001587	stop_gained	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405819C>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.481G>T	10.37:g.1405819C>A	ENSP00000370713:p.Glu161*						p.E161*	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	855	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	161			DRBM 1.		B2RPJ5|Q5VUT6|Q5VW42	Nonsense_Mutation	SNP	ENST00000381312.1	37	c.481G>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	c	41	8.536967	0.98854	.	.	ENSG00000185736	ENST00000381312	.	.	.	5.27	5.27	0.74061	.	0.046950	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.5746	18.9207	0.92523	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000370713:E161X	E	-	1	0	ADARB2	1395819	1.000000	0.71417	0.960000	0.40013	0.884000	0.51177	7.697000	0.84279	2.463000	0.83235	0.651000	0.88453	GAG		PASS	0.677	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		7	31	7	31	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7217978	7217978	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:7217978C>A	ENST00000361972.4	-	17	2048	c.1958G>T	c.(1957-1959)tGc>tTc	p.C653F	SFMBT2_ENST00000397167.1_Missense_Mutation_p.C653F	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	653					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.C653F(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ATGAATGGAGCAGTTCTCTGG	0.418																																						uc009xio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1957-1959)TGC>TTC		Scm-like with four mbt domains 2							187.0	185.0	186.0					10																	7217978		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7217978C>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1958G>T	10.37:g.7217978C>A	ENSP00000355109:p.Cys653Phe					SFMBT2_uc001ijn.1_Missense_Mutation_p.C653F|SFMBT2_uc010qay.1_Missense_Mutation_p.C488F	p.C653F	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			17	2049	-			653					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1958G>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312797	0.81358	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.26957	1.7;1.7	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.50972	-0.8764	10	0.59425	D	0.04	.	20.1218	0.97964	0.0:1.0:0.0:0.0	.	653	Q5VUG0	SMBT2_HUMAN	F	653	ENSP00000355109:C653F;ENSP00000380353:C653F	ENSP00000355109:C653F	C	-	2	0	SFMBT2	7257984	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.362000	0.79507	2.763000	0.94921	0.561000	0.74099	TGC		PASS	0.418	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		36	247	36	247	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26569998	26569998	+	Silent	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:26569998T>A	ENST00000376261.3	+	12	1721	c.1218T>A	c.(1216-1218)gcT>gcA	p.A406A	GAD2_ENST00000259271.3_Silent_p.A406A	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	406					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.A406A(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						AGTGCTCTGCTCTCCTGGTTA	0.498																																						uc001isp.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1216-1218)GCT>GCA		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						185.0	161.0	169.0					10																	26569998		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26569998T>A	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.1218T>A	10.37:g.26569998T>A						GAD2_uc001isq.2_Silent_p.A406A	p.A406A	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			12	1721	+			406					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1218T>A	CCDS7149.1																																																																																				PASS	0.498	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		51	180	51	180	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27702764	27702764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:27702764C>T	ENST00000438700.3	-	1	533	c.416G>A	c.(415-417)tGg>tAg	p.W139*		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	139					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.W139*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGGAAGATCCAGGGGTGCGC	0.657																																						uc001itu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(415-417)TGG>TAG		patched domain containing 3							33.0	39.0	37.0					10																	27702764		2203	4300	6503	SO:0001587	stop_gained	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702764C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.416G>A	10.37:g.27702764C>T	ENSP00000417658:p.Trp139*						p.W139*	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	534	-			139			Helical; (Potential).		I3L499|Q6ZU28	Nonsense_Mutation	SNP	ENST00000438700.3	37	c.416G>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	36	5.947462	0.97134	.	.	ENSG00000182077	ENST00000438700	.	.	.	4.01	4.01	0.46588	.	0.465692	0.23926	N	0.043194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-4.9261	14.4785	0.67564	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000417658:W139X	W	-	2	0	PTCHD3	27742770	1.000000	0.71417	0.809000	0.32408	0.784000	0.44337	3.292000	0.51772	2.068000	0.61886	0.555000	0.69702	TGG		PASS	0.657	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		19	73	19	73	---	---	---	---
ARMC4	55130	broad.mit.edu	37	10	28225785	28225785	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:28225785C>A	ENST00000305242.5	-	15	2214	c.2122G>T	c.(2122-2124)Gac>Tac	p.D708Y	ARMC4_ENST00000537576.1_Missense_Mutation_p.D400Y|ARMC4_ENST00000545014.1_Missense_Mutation_p.D233Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	708					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.D708Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTAACGAGGTCCCGGGTTTCC	0.478																																						uc009xky.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2122-2124)GAC>TAC		armadillo repeat containing 4							110.0	102.0	105.0					10																	28225785		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28225785C>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2122G>T	10.37:g.28225785C>A	ENSP00000306410:p.Asp708Tyr					ARMC4_uc010qds.1_Missense_Mutation_p.D233Y|ARMC4_uc010qdt.1_Missense_Mutation_p.D400Y|ARMC4_uc001itz.2_Missense_Mutation_p.D708Y	p.D708Y	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			15	2220	-			708					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2122G>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125775	0.56721	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.66995	-0.24;-0.24;-0.24	5.69	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.088520	0.85682	D	0.000000	T	0.72407	0.3456	M	0.77820	2.39	0.80722	D	1	B;P	0.41159	0.368;0.74	B;B	0.43274	0.201;0.414	T	0.76591	-0.2903	10	0.59425	D	0.04	-22.2496	16.7092	0.85380	0.0:0.8703:0.1297:0.0	.	233;708	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	Y	400;708;233	ENSP00000443208:D400Y;ENSP00000306410:D708Y;ENSP00000441076:D233Y	ENSP00000306410:D708Y	D	-	1	0	ARMC4	28265791	1.000000	0.71417	0.927000	0.36925	0.981000	0.71138	4.538000	0.60650	1.387000	0.46486	0.650000	0.86243	GAC		PASS	0.478	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		43	169	43	169	---	---	---	---
ARHGAP12	94134	broad.mit.edu	37	10	32101679	32101679	+	Missense_Mutation	SNP	C	C	A	rs146011999	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:32101679C>A	ENST00000344936.2	-	15	2141	c.1907G>T	c.(1906-1908)cGa>cTa	p.R636L	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.R606L|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R584L|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R584L|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R631L	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	636					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R636L(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGTGGGGCGTCGTGTAAGAAA	0.338																																						uc001ivz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1906-1908)CGA>CTA		Rho GTPase activating protein 12							122.0	126.0	124.0					10																	32101679		2202	4300	6502	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32101679C>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1907G>T	10.37:g.32101679C>A	ENSP00000345808:p.Arg636Leu					ARHGAP12_uc001ivy.1_Missense_Mutation_p.R582L|ARHGAP12_uc009xls.2_Missense_Mutation_p.R587L|ARHGAP12_uc001iwb.1_Missense_Mutation_p.R629L|ARHGAP12_uc001iwc.1_Missense_Mutation_p.R604L|ARHGAP12_uc009xlq.1_Missense_Mutation_p.R557L|ARHGAP12_uc001iwd.1_Missense_Mutation_p.R604L	p.R636L	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			15	2177	-		Prostate(175;0.0199)	636					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.1907G>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331491	0.95733	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.10005	2.99;2.92;2.96;2.96;2.99	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D	0.71674	0.997;0.997;0.998;0.997;0.997;0.998	D;P;D;P;P;D	0.67231	0.932;0.893;0.95;0.893;0.893;0.95	T	0.11324	-1.0592	10	0.72032	D	0.01	.	19.9351	0.97137	0.0:1.0:0.0:0.0	.	589;606;606;631;636;584	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	L	584;606;636;631;584	ENSP00000310984:R584L;ENSP00000364399:R606L;ENSP00000345808:R636L;ENSP00000379448:R631L;ENSP00000364394:R584L	ENSP00000310984:R584L	R	-	2	0	ARHGAP12	32141685	1.000000	0.71417	0.963000	0.40424	0.995000	0.86356	7.780000	0.85658	2.703000	0.92315	0.655000	0.94253	CGA		PASS	0.338	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			42	117	42	117	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38345387	38345387	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:38345387G>T	ENST00000458705.2	+	5	2490	c.2332G>T	c.(2332-2334)Gaa>Taa	p.E778*	ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.E785*|ZNF33A_ENST00000374618.3_Nonsense_Mutation_p.E779*|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.E778*			Q06730	ZN33A_HUMAN	zinc finger protein 33A	778					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E778*(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCTTATGAATGAAATGGATAT	0.388																																						uc001izh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2332-2334)GAA>TAA		zinc finger protein 33A isoform b							66.0	65.0	66.0					10																	38345387		2203	4300	6503	SO:0001587	stop_gained	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38345387G>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.2332G>T	10.37:g.38345387G>T	ENSP00000387713:p.Glu778*					ZNF33A_uc001izg.2_Nonsense_Mutation_p.E779*|ZNF33A_uc010qev.1_Nonsense_Mutation_p.E785*|ZNF33A_uc001izi.1_Intron	p.E778*	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	2510	+			778					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Nonsense_Mutation	SNP	ENST00000458705.2	37	c.2332G>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776930	0.70107	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	.	.	.	1.92	0.958	0.19619	.	.	.	.	.	.	.	.	.	.	.	0.51012	D	0.999904	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9629	0.19308	0.1934:0.0:0.8066:0.0	.	.	.	.	X	779;785;778;778	.	ENSP00000304268:E778X	E	+	1	0	ZNF33A	38385393	0.547000	0.26465	0.005000	0.12908	0.184000	0.23303	0.889000	0.28282	1.044000	0.40200	0.313000	0.20887	GAA		PASS	0.388	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		22	94	22	94	---	---	---	---
TMEM72	643236	broad.mit.edu	37	10	45423393	45423393	+	Intron	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:45423393C>G	ENST00000544540.1	+	2	267				TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72							integral component of membrane (GO:0016021)		p.T32S(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GGCACTGAGACCTTCCTCCAG	0.542																																						uc001jbn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(94-96)ACC>AGC		transmembrane protein 72							192.0	171.0	177.0					10																	45423393		1568	3582	5150	SO:0001627	intron_variant	643236					integral to membrane		g.chr10:45423393C>G	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.-217-4053C>G	10.37:g.45423393C>G						uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Intron	p.T32S	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN			2	292	+			32			Helical; (Potential).		A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	37	c.95C>G		.	.	.	.	.	.	.	.	.	.	C	13.72	2.322097	0.41096	.	.	ENSG00000187783	ENST00000389583	.	.	.	3.82	3.82	0.43975	.	0.082548	0.46145	D	0.000317	T	0.59770	0.2218	M	0.71581	2.175	0.80722	D	1	B	0.19073	0.033	B	0.18263	0.021	T	0.63161	-0.6699	9	0.56958	D	0.05	-15.8	11.1029	0.48186	0.0:1.0:0.0:0.0	.	32	A0PK05	TMM72_HUMAN	S	32	.	ENSP00000374234:T32S	T	+	2	0	TMEM72	44743399	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.210000	0.65214	1.970000	0.57323	0.281000	0.19383	ACC		PASS	0.542	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		34	165	34	165	---	---	---	---
ANXA8L1	728113	broad.mit.edu	37	10	47158894	47158894	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:47158894T>G	ENST00000359178.4	-	12	1048	c.927A>C	c.(925-927)gaA>gaC	p.E309D	ANXA8L1_ENST00000414655.2_Missense_Mutation_p.E247D|ANXA8L1_ENST00000545298.1_3'UTR|ANXA8L1_ENST00000358140.4_Missense_Mutation_p.E258D	NM_001098845.1	NP_001092315	Q5T2P8	AXA81_HUMAN	annexin A8-like 1	309							calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.E309D(1)		large_intestine(1)|lung(1)	2						CGCTGGTGTCTTCCTGTGGGC	0.597																																						uc001jeh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(925-927)GAA>GAC		annexin A8-like 1							99.0	76.0	84.0					10																	47158894		2191	4105	6296	SO:0001583	missense	653145				blood coagulation		calcium ion binding|calcium-dependent phospholipid binding	g.chr10:47158894T>G		CCDS73097.1, CCDS73098.1, CCDS73099.1	10q11.22	2014-06-19			ENSG00000150165			"""Annexins"""	23334	protein-coding gene	gene with protein product			"""annexin A8-like 2"""	ANXA8L2			Standard	NM_001098845		Approved	bA301J7.3, bA145E20.2		Q5T2P8	OTTHUMG00000018114	ENST00000359178.4:c.927A>C	10.37:g.47158894T>G	ENSP00000352101:p.Glu309Asp					ANXA8_uc001jed.3_Intron|ANXA8_uc010qfr.1_Missense_Mutation_p.E413D|ANXA8_uc010qfs.1_Missense_Mutation_p.E313D|ANXA8_uc010qft.1_RNA|ANXA8L1_uc010qfu.1_Missense_Mutation_p.E130D	p.E309D	NM_001098845	NP_001092315	P13928	ANXA8_HUMAN			12	1049	-			309			Annexin 4.		A6NDE6|B4DKI1	Missense_Mutation	SNP	ENST00000359178.4	37	c.927A>C	CCDS41511.1	.	.	.	.	.	.	.	.	.	.	T	9.902	1.207077	0.22205	.	.	ENSG00000150165	ENST00000358140;ENST00000359178;ENST00000414655	T;T;T	0.21543	2.0;2.37;2.37	4.16	0.263	0.15602	Annexin repeat, conserved site (1);	1.003840	0.08024	N	0.992473	T	0.05044	0.0135	N	0.00483	-1.445	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.11329	0.006;0.001;0.0;0.0	T	0.29305	-1.0016	10	0.36615	T	0.2	.	0.7865	0.01049	0.2167:0.1189:0.1783:0.4861	.	258;375;309;309	Q5T2P7;B4DQE1;B2R939;Q5T2P8	.;.;.;AXA81_HUMAN	D	258;309;247	ENSP00000350859:E258D;ENSP00000352101:E309D;ENSP00000415523:E247D	ENSP00000350859:E258D	E	-	3	2	ANXA8L1	46578900	0.084000	0.21492	0.811000	0.32455	0.512000	0.34134	0.115000	0.15540	-0.162000	0.10964	0.352000	0.21897	GAA		PASS	0.597	ANXA8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047843.1			9	55	9	55	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50870730	50870730	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:50870730C>G	ENST00000337653.2	+	14	2032	c.1879C>G	c.(1879-1881)Ctg>Gtg	p.L627V	CHAT_ENST00000339797.1_Missense_Mutation_p.L509V|CHAT_ENST00000455728.2_Missense_Mutation_p.L509V|CHAT_ENST00000395559.2_Missense_Mutation_p.L509V|CHAT_ENST00000395562.2_Missense_Mutation_p.L545V|CHAT_ENST00000351556.3_Missense_Mutation_p.L509V	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	627					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.L627V(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)	CCTGCTGGCACTGCGGGAGCT	0.572																																						uc001jhz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(1879-1881)CTG>GTG		choline acetyltransferase isoform 2	Choline(DB00122)						122.0	117.0	119.0					10																	50870730		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50870730C>G	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.1879C>G	10.37:g.50870730C>G	ENSP00000337103:p.Leu627Val					CHAT_uc001jhv.1_Missense_Mutation_p.L509V|CHAT_uc001jhx.1_Missense_Mutation_p.L509V|CHAT_uc001jhy.1_Missense_Mutation_p.L509V|CHAT_uc001jia.2_Missense_Mutation_p.L509V|CHAT_uc010qgs.1_Missense_Mutation_p.L509V	p.L627V	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	14	2032	+		all_neural(218;0.107)	627					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1879C>G	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462060	0.63513	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23;-5.23	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.984;1.0	D	0.98066	1.0396	10	0.87932	D	0	-15.9192	19.5169	0.95169	0.0:1.0:0.0:0.0	.	509;627	F8W8I2;P28329	.;CLAT_HUMAN	V	509;509;509;627;545;509	ENSP00000343486:L509V;ENSP00000345878:L509V;ENSP00000378926:L509V;ENSP00000337103:L627V;ENSP00000378929:L545V;ENSP00000390521:L509V	ENSP00000337103:L627V	L	+	1	2	CHAT	50540736	1.000000	0.71417	0.997000	0.53966	0.395000	0.30598	6.066000	0.71185	2.631000	0.89168	0.655000	0.94253	CTG		PASS	0.572	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		41	154	41	154	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61823935	61823935	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:61823935C>G	ENST00000280772.2	-	39	12622	c.12431G>C	c.(12430-12432)aGa>aCa	p.R4144T	ANK3_ENST00000373827.2_Missense_Mutation_p.R1525T|ANK3_ENST00000355288.2_Missense_Mutation_p.R665T|ANK3_ENST00000503366.1_Missense_Mutation_p.R1532T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4144	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R665T(1)|p.R4144T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCCGTCTCTGGTAACCCA	0.303																																						uc001jky.2																			2	Substitution - Missense(2)		lung(2)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(12430-12432)AGA>ACA		ankyrin 3 isoform 1							81.0	85.0	84.0					10																	61823935		2202	4298	6500	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61823935C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12431G>C	10.37:g.61823935C>G	ENSP00000280772:p.Arg4144Thr					ANK3_uc001jkw.2_Missense_Mutation_p.R665T|ANK3_uc009xpa.2_Missense_Mutation_p.R665T|ANK3_uc001jkx.2_Missense_Mutation_p.R709T|ANK3_uc010qih.1_Missense_Mutation_p.R1532T|ANK3_uc001jkz.3_Missense_Mutation_p.R1525T|ANK3_uc001jkv.2_Missense_Mutation_p.R64T	p.R4144T	NM_020987	NP_066267	Q12955	ANK3_HUMAN			39	12623	-			4144			Death.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.12431G>C	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.758068|4.758068	0.89843|0.89843	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000514197;ENST00000511043|ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817	.|D;D;D;D;D	.|0.86769	.|-2.17;-2.17;-2.17;-2.17;-2.17	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Death (3);DEATH-like (2);	.|0.000000	.|0.41396	.|D	.|0.000884	D|D	0.92802|0.92802	0.7711|0.7711	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|B;D;B;P;P;D;D	.|0.89917	.|0.236;0.998;0.333;0.934;0.911;0.994;1.0	.|B;D;B;D;P;D;D	.|0.91635	.|0.262;0.997;0.241;0.929;0.55;0.985;0.999	D|D	0.93283|0.93283	0.6662|0.6662	5|10	.|0.87932	.|D	.|0	.|.	19.1741|19.1741	0.93597|0.93597	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1532;665;1525;4144;766;665;64	.|E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.|.;.;.;ANK3_HUMAN;.;.;.	Q|T	38;91|4144;1525;123;665;665;1532;1511;766	.|ENSP00000280772:R4144T;ENSP00000362933:R1525T;ENSP00000362926:R123T;ENSP00000347436:R665T;ENSP00000425236:R1532T	.|ENSP00000280772:R4144T	E|R	-|-	1|2	0|0	ANK3|ANK3	61493941|61493941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.089000|6.089000	0.71384|0.71384	2.530000|2.530000	0.85305|0.85305	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.303	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		34	122	34	122	---	---	---	---
PBLD	64081	broad.mit.edu	37	10	70048725	70048725	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:70048725G>C	ENST00000358769.2	-	7	677	c.475C>G	c.(475-477)Caa>Gaa	p.Q159E	PBLD_ENST00000309049.4_Missense_Mutation_p.Q159E|PBLD_ENST00000336578.1_Missense_Mutation_p.Q126E|PBLD_ENST00000495025.2_Missense_Mutation_p.Q159E|PBLD_ENST00000432941.1_Missense_Mutation_p.Q159E	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	159					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)	p.Q159E(2)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGGAGCTTTTGGGTATCTGGA	0.512																																						uc001jns.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(475-477)CAA>GAA		MAWD binding protein isoform a							227.0	179.0	195.0					10																	70048725		2203	4300	6503	SO:0001583	missense	64081				biosynthetic process		isomerase activity	g.chr10:70048725G>C	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.475C>G	10.37:g.70048725G>C	ENSP00000351619:p.Gln159Glu					PBLD_uc001jnr.1_Missense_Mutation_p.Q126E|PBLD_uc001jnt.1_Missense_Mutation_p.Q159E|PBLD_uc001jnu.1_Missense_Mutation_p.Q159E|PBLD_uc001jnv.1_Missense_Mutation_p.Q126E	p.Q159E	NM_022129	NP_071412	P30039	PBLD_HUMAN			7	678	-			159					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.475C>G	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	G	7.590	0.670563	0.14776	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941;ENST00000277795	T;T;T;T;T	0.29142	1.66;1.66;1.66;1.66;1.58	5.35	2.05	0.26809	.	0.431444	0.22093	N	0.064726	T	0.17662	0.0424	N	0.25201	0.72	0.09310	N	1	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.15052	0.006;0.012;0.005	T	0.25328	-1.0135	10	0.10636	T	0.68	-0.2228	11.3938	0.49830	0.0:0.0:0.3468:0.6532	.	126;159;159	F8W7D0;C9JIM0;P30039	.;.;PBLD_HUMAN	E	126;159;159;159;126	ENSP00000338041:Q126E;ENSP00000351619:Q159E;ENSP00000308466:Q159E;ENSP00000395534:Q159E;ENSP00000277795:Q126E	ENSP00000277795:Q126E	Q	-	1	0	PBLD	69718731	0.854000	0.29725	0.487000	0.27428	0.295000	0.27426	1.140000	0.31516	0.582000	0.29556	0.655000	0.94253	CAA		PASS	0.512	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		13	240	13	240	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70446379	70446379	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:70446379G>T	ENST00000373644.4	+	11	5528	c.5319G>T	c.(5317-5319)gtG>gtT	p.V1773V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1773					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.V1773V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TAAGGGCAGTGGAAAAGAAAC	0.468																																						uc001jok.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(5317-5319)GTG>GTT		CXXC finger 6							117.0	109.0	111.0					10																	70446379		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70446379G>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5319G>T	10.37:g.70446379G>T							p.V1773V	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			11	5824	+			1773					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.5319G>T	CCDS7281.1																																																																																				PASS	0.468	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		38	147	38	147	---	---	---	---
SGPL1	8879	broad.mit.edu	37	10	72617373	72617373	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:72617373G>T	ENST00000373202.3	+	6	612	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	138					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.A138S(1)		large_intestine(4)	4						CTCTGCAGACGCCTTCTGGCA	0.498																																					Colon(151;1054 2458 6676 40971)	uc001jrm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)GCC>TCC		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						118.0	107.0	111.0					10																	72617373		2203	4300	6503	SO:0001583	missense	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72617373G>T	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.412G>T	10.37:g.72617373G>T	ENSP00000362298:p.Ala138Ser						p.A138S	NM_003901	NP_003892	O95470	SGPL1_HUMAN			6	634	+			138			Cytoplasmic (Potential).		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	c.412G>T	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087636	0.20390	.	.	ENSG00000166224	ENST00000373202;ENST00000299297	T;T	0.41758	0.99;1.13	5.86	0.255	0.15561	Pyridoxal phosphate-dependent transferase, major domain (1);	0.682956	0.15402	N	0.264245	T	0.23330	0.0564	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21759	-1.0236	10	0.17369	T	0.5	-0.0269	7.727	0.28765	0.2719:0.0:0.6144:0.1136	.	138	O95470	SGPL1_HUMAN	S	138;121	ENSP00000362298:A138S;ENSP00000299297:A121S	ENSP00000299297:A121S	A	+	1	0	SGPL1	72287379	0.626000	0.27120	0.056000	0.19401	0.721000	0.41392	1.064000	0.30579	0.123000	0.18342	0.650000	0.86243	GCC		PASS	0.498	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		32	160	32	160	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73562740	73562740	+	Missense_Mutation	SNP	C	C	G	rs369761606		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:73562740C>G	ENST00000224721.6	+	53	7588	c.7583C>G	c.(7582-7584)cCg>cGg	p.P2528R	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.P283R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2523	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.P2528R(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GAGAATGAGCCGGCGGGCACC	0.582																																						uc001jrx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(7567-7569)CCG>CGG		cadherin-like 23 isoform 1 precursor							67.0	71.0	70.0					10																	73562740		2018	4181	6199	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73562740C>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7583C>G	10.37:g.73562740C>G	ENSP00000224721:p.Pro2528Arg					CDH23_uc001jsg.3_Missense_Mutation_p.P283R|CDH23_uc001jsh.3_Missense_Mutation_p.P283R|CDH23_uc001jsi.3_Missense_Mutation_p.P283R	p.P2523R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			52	7945	+			2523			Cadherin 24.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.7568C>G		.	.	.	.	.	.	.	.	.	.	C	15.87	2.961967	0.53400	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.01685	4.69	4.99	4.99	0.66335	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.11922	0.0290	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.00749	-1.1582	10	0.52906	T	0.07	.	18.624	0.91331	0.0:1.0:0.0:0.0	.	2523;2523	E9PEX1;Q9H251	.;CAD23_HUMAN	R	2528;2523;2526;283	ENSP00000381768:P283R	ENSP00000224721:P2528R	P	+	2	0	CDH23	73232746	1.000000	0.71417	0.942000	0.38095	0.209000	0.24338	7.346000	0.79347	2.478000	0.83669	0.643000	0.83706	CCG		PASS	0.582	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		31	95	31	95	---	---	---	---
SAMD8	142891	broad.mit.edu	37	10	76868782	76868782	+	5'Flank	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:76868782A>G	ENST00000542569.1	+	0	0				DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.L45P|DUSP13_ENST00000372702.3_Missense_Mutation_p.L45P|SAMD8_ENST00000372687.4_5'Flank|SAMD8_ENST00000372690.3_5'Flank	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.L45P(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCCTATGAAAAGGTTGGGCCA	0.602																																						uc001jws.2																			2	Substitution - Missense(2)		lung(2)		0						c.(133-135)CTT>CCT		muscle-restricted dual specificity phosphatase							116.0	85.0	95.0					10																	76868782		2203	4300	6503	SO:0001631	upstream_gene_variant	51207					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76868782A>G	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515		10.37:g.76868782A>G	Exception_encountered					DUSP13_uc001jwu.2_5'UTR|DUSP13_uc001jww.2_Missense_Mutation_p.L45P|DUSP13_uc009xrs.2_5'UTR|DUSP13_uc001jwt.2_5'UTR|DUSP13_uc001jwv.2_5'UTR|SAMD8_uc001jwx.1_5'Flank|SAMD8_uc001jwy.1_5'Flank	p.L45P	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN			1	189	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		45			Tyrosine-protein phosphatase.		Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	c.134T>C	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693358	0.88735	.	.	ENSG00000079393	ENST00000372702;ENST00000372700	D;T	0.89343	-2.5;2.92	5.38	5.38	0.77491	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	D	0.96525	0.8866	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96847	0.9622	9	0.30078	T	0.28	.	14.3642	0.66795	1.0:0.0:0.0:0.0	.	45;45	Q9UII6-4;Q6B8I1	.;MDSP_HUMAN	P	45	ENSP00000361787:L45P;ENSP00000361785:L45P	ENSP00000361785:L45P	L	-	2	0	DUSP13	76538788	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.423000	0.90264	2.035000	0.60131	0.528000	0.53228	CTT		PASS	0.602	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		15	69	15	69	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85971451	85971451	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:85971451C>A	ENST00000372117.3	+	14	1636	c.1533C>A	c.(1531-1533)acC>acA	p.T511T	CDHR1_ENST00000332904.3_Silent_p.T511T|CDHR1_ENST00000440770.2_Silent_p.T215T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.T511T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AATATTCCACCTATGGGACTG	0.572																																						uc001kcv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1531-1533)ACC>ACA		protocadherin 21 precursor							120.0	119.0	119.0					10																	85971451		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85971451C>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1533C>A	10.37:g.85971451C>A						CDHR1_uc001kcw.2_Silent_p.T511T|CDHR1_uc009xst.2_Silent_p.T215T|CDHR1_uc001kcx.2_5'Flank	p.T511T	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			14	1533	+			511			Cadherin 5.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.1533C>A	CCDS7372.1																																																																																				PASS	0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		81	240	81	240	---	---	---	---
BMPR1A	657	broad.mit.edu	37	10	88649924	88649924	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:88649924T>A	ENST00000372037.3	+	4	710	c.173T>A	c.(172-174)tTt>tAt	p.F58Y	RNU1-19P_ENST00000363306.1_RNA	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	58			F -> Y (in a renal clear cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.F58Y(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						ACCTTGCCTTTTTTAAAGTGC	0.403			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	uc001kdy.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	Mis|N|F	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			3	Substitution - Missense(3)	p.F58Y(1)	lung(2)|kidney(1)	lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						c.(172-174)TTT>TAT		bone morphogenetic protein receptor, type IA							159.0	146.0	150.0					10																	88649924		2203	4300	6503	SO:0001583	missense	657	Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88649924T>A	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.173T>A	10.37:g.88649924T>A	ENSP00000361107:p.Phe58Tyr						p.F58Y	NM_004329	NP_004320	P36894	BMR1A_HUMAN			4	721	+			58		F -> Y (in a renal clear cell carcinoma sample; somatic mutation).	Extracellular (Potential).		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.173T>A	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.517149	0.64634	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.89939	-2.59	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.80623	0.4658	N	0.24115	0.695	0.80722	D	1	P	0.43662	0.814	B	0.39971	0.315	T	0.80195	-0.1483	10	0.02654	T	1	.	16.5285	0.84344	0.0:0.0:0.0:1.0	.	58	P36894	BMR1A_HUMAN	Y	58	ENSP00000361107:F58Y	ENSP00000224764:F58Y	F	+	2	0	BMPR1A	88639904	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.656000	0.67988	2.307000	0.77673	0.528000	0.53228	TTT		PASS	0.403	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		37	280	37	280	---	---	---	---
TBC1D12	23232	broad.mit.edu	37	10	96253172	96253172	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:96253172A>T	ENST00000225235.4	+	4	1372	c.1262A>T	c.(1261-1263)tAc>tTc	p.Y421F		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	421							Rab GTPase activator activity (GO:0005097)	p.Y421F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CGACAAGAATACGATGAGATG	0.313																																						uc001kjr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1261-1263)TAC>TTC		TBC1 domain family, member 12							94.0	96.0	96.0					10																	96253172		1807	4085	5892	SO:0001583	missense	23232					intracellular	Rab GTPase activator activity	g.chr10:96253172A>T	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1262A>T	10.37:g.96253172A>T	ENSP00000225235:p.Tyr421Phe						p.Y421F	NM_015188	NP_056003	O60347	TBC12_HUMAN			4	1447	+		Colorectal(252;0.0429)	421			Potential.		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	c.1262A>T	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761653	0.89932	.	.	ENSG00000108239	ENST00000225235	T	0.58358	0.34	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.65749	0.2721	M	0.67700	2.07	0.58432	D	0.999997	D	0.56035	0.974	P	0.58577	0.841	T	0.69213	-0.5204	10	0.66056	D	0.02	-14.0603	13.1435	0.59448	1.0:0.0:0.0:0.0	.	421	O60347	TBC12_HUMAN	F	421	ENSP00000225235:Y421F	ENSP00000225235:Y421F	Y	+	2	0	TBC1D12	96243162	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.183000	0.89700	2.266000	0.75297	0.533000	0.62120	TAC		PASS	0.313	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			20	97	20	97	---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97158878	97158878	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:97158878C>T	ENST00000361941.3	-	10	1080	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	SORBS1_ENST00000393949.1_Missense_Mutation_p.G343S|SORBS1_ENST00000354106.3_Missense_Mutation_p.G343S|SORBS1_ENST00000306402.6_Missense_Mutation_p.G229S|SORBS1_ENST00000371239.1_Missense_Mutation_p.G197S|SORBS1_ENST00000371245.3_Missense_Mutation_p.G283S|SORBS1_ENST00000371246.2_Missense_Mutation_p.G352S|SORBS1_ENST00000371249.2_Missense_Mutation_p.G320S|SORBS1_ENST00000607232.1_Missense_Mutation_p.G187S|SORBS1_ENST00000353505.5_Missense_Mutation_p.G283S|SORBS1_ENST00000347291.4_Missense_Mutation_p.G220S|SORBS1_ENST00000371241.1_Missense_Mutation_p.G188S|SORBS1_ENST00000371247.2_Missense_Mutation_p.G352S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000277982.5_Missense_Mutation_p.G352S|SORBS1_ENST00000371227.4_Missense_Mutation_p.G352S	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.G283S(1)|p.G352S(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATAGCCTTGCCAGGTGAGGTG	0.488																																						uc001kkp.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1054-1056)GGC>AGC		sorbin and SH3 domain containing 1 isoform 3							227.0	183.0	198.0					10																	97158878		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97158878C>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1054G>A	10.37:g.97158878C>T	ENSP00000355136:p.Gly352Ser					SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Missense_Mutation_p.G185S|SORBS1_uc001kkm.2_Missense_Mutation_p.G208S|SORBS1_uc001kko.2_Missense_Mutation_p.G352S|SORBS1_uc001kkq.2_Missense_Mutation_p.G283S|SORBS1_uc001kkr.2_Missense_Mutation_p.G188S|SORBS1_uc001kks.2_Missense_Mutation_p.G188S|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Missense_Mutation_p.G229S|SORBS1_uc001kkv.2_Missense_Mutation_p.G320S|SORBS1_uc001kkw.2_Missense_Mutation_p.G352S|SORBS1_uc010qoe.1_Missense_Mutation_p.G197S|SORBS1_uc010qof.1_Missense_Mutation_p.G550S	p.G352S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	10	1099	-		Colorectal(252;0.0429)	352						Missense_Mutation	SNP	ENST00000361941.3	37	c.1054G>A	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	2.202	-0.382738	0.04966	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.83;1.62;1.03;1.03;1.03;1.03;1.03;1.83;2.96;1.03;1.03;1.62;1.03;1.62	5.79	1.54	0.23209	.	0.521868	0.14692	N	0.304138	T	0.20170	0.0485	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.24721	0.11;0.0;0.002;0.001;0.001;0.0;0.0;0.0;0.0;0.007;0.002	B;B;B;B;B;B;B;B;B;B;B	0.22386	0.039;0.0;0.013;0.004;0.006;0.0;0.007;0.005;0.002;0.02;0.005	T	0.25745	-1.0123	10	0.06891	T	0.86	0.4732	8.4304	0.32755	0.0:0.6334:0.0:0.3666	.	550;197;352;320;229;188;197;283;352;352;220	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.	S	283;229;320;352;352;352;343;283;220;352;352;188;343;197	ENSP00000360291:G283S;ENSP00000302556:G229S;ENSP00000360295:G320S;ENSP00000360293:G352S;ENSP00000360271:G352S;ENSP00000360292:G352S;ENSP00000377521:G343S;ENSP00000343998:G283S;ENSP00000277985:G220S;ENSP00000355136:G352S;ENSP00000277982:G352S;ENSP00000360285:G188S;ENSP00000277984:G343S;ENSP00000360283:G197S	ENSP00000277982:G352S	G	-	1	0	SORBS1	97148868	0.000000	0.05858	0.005000	0.12908	0.779000	0.44077	0.103000	0.15292	0.430000	0.26230	0.462000	0.41574	GGC		PASS	0.488	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			42	117	42	117	---	---	---	---
HPS1	3257	broad.mit.edu	37	10	100179892	100179892	+	Silent	SNP	C	C	A	rs79218830	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:100179892C>A	ENST00000325103.6	-	18	2000	c.1767G>T	c.(1765-1767)gcG>gcT	p.A589A	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.A589A	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	589					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.A589A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGTATCTGCGCGCCAGCTGGA	0.572									Hermansky-Pudlak syndrome																													uc010qpf.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1765-1767)GCG>GCT		Hermansky-Pudlak syndrome 1 protein isoform a							160.0	136.0	144.0					10																	100179892		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100179892C>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1767G>T	10.37:g.100179892C>A						HPS1_uc001kpi.1_Silent_p.A590A|HPS1_uc001kpj.1_Silent_p.A497A|HPS1_uc001kpk.1_Silent_p.A414A	p.A589A	NM_000195	NP_000186	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	18	2013	-		Colorectal(252;0.234)	589					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.1767G>T	CCDS7475.1																																																																																				PASS	0.572	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		79	197	79	197	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101560142	101560142	+	Splice_Site	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:101560142G>T	ENST00000370449.4	+	9	1144		c.e9-1			NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2						cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.?(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTCTCTGGCAGATTGCTGATC	0.458																																						uc001kqf.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e9-1		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						328.0	314.0	319.0					10																	101560142		2203	4300	6503	SO:0001630	splice_region_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101560142G>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1032-1G>T	10.37:g.101560142G>T							p.K344_splice	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	9	1171	+		Colorectal(252;0.234)						B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Splice_Site	SNP	ENST00000370449.4	37	c.1032_splice	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781047	0.90282	.	.	ENSG00000023839	ENST00000370449	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.042	0.97594	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC2	101550132	1.000000	0.71417	0.740000	0.30986	0.941000	0.58515	9.598000	0.98277	2.741000	0.93983	0.561000	0.74099	.		PASS	0.458	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	Intron	134	471	134	471	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816862	101816862	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:101816862G>T	ENST00000370418.3	-	6	1170	c.919C>A	c.(919-921)Ctg>Atg	p.L307M		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	307	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L307M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CTCAGTTCCAGCGTGATCTCA	0.498																																						uc001kql.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|pancreas(1)	4						c.(919-921)CTG>ATG		carboxypeptidase N, polypeptide 1 precursor							204.0	200.0	202.0					10																	101816862		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816862G>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.919C>A	10.37:g.101816862G>T	ENSP00000359446:p.Leu307Met						p.L307M	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1179	-		Colorectal(252;0.234)	307			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.919C>A	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611086	0.46631	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.12984	3.77;2.63	4.46	1.52	0.23074	Peptidase M14, carboxypeptidase A (2);	0.163511	0.42172	D	0.000749	T	0.27169	0.0666	M	0.84326	2.69	0.47659	D	0.999489	D	0.55172	0.97	P	0.55999	0.789	T	0.02064	-1.1220	10	0.59425	D	0.04	-31.7987	5.3701	0.16134	0.2462:0.1451:0.6087:0.0	.	307	P15169	CBPN_HUMAN	M	307;104	ENSP00000359446:L307M;ENSP00000410895:L104M	ENSP00000359446:L307M	L	-	1	2	CPN1	101806852	0.968000	0.33430	0.310000	0.25168	0.908000	0.53690	1.641000	0.37197	0.508000	0.28173	0.455000	0.32223	CTG		PASS	0.498	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		138	419	138	419	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101825081	101825081	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:101825081T>C	ENST00000370418.3	-	4	874	c.623A>G	c.(622-624)aAc>aGc	p.N208S		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	208	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.N208S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AAGAACAAAGTTGAAGGAGTG	0.622																																						uc001kql.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|pancreas(1)	4						c.(622-624)AAC>AGC		carboxypeptidase N, polypeptide 1 precursor							55.0	53.0	54.0					10																	101825081		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101825081T>C	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.623A>G	10.37:g.101825081T>C	ENSP00000359446:p.Asn208Ser						p.N208S	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	4	883	-		Colorectal(252;0.234)	208			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.623A>G	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138121	0.77775	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.11277	3.9;2.79	4.62	4.62	0.57501	Peptidase M14, carboxypeptidase A (2);	0.087086	0.85682	D	0.000000	T	0.21227	0.0511	L	0.41079	1.255	0.52099	D	0.999948	D	0.67145	0.996	P	0.61070	0.883	T	0.00770	-1.1573	10	0.62326	D	0.03	-29.35	14.1665	0.65480	0.0:0.0:0.0:1.0	.	208	P15169	CBPN_HUMAN	S	208;5	ENSP00000359446:N208S;ENSP00000410895:N5S	ENSP00000359446:N208S	N	-	2	0	CPN1	101815071	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.881000	0.56152	1.929000	0.55896	0.459000	0.35465	AAC		PASS	0.622	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		34	97	34	97	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117221452	117221452	+	Splice_Site	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:117221452C>G	ENST00000355044.3	+	22	3450	c.3324C>G	c.(3322-3324)taC>taG	p.Y1108*	ATRNL1_ENST00000423111.2_Splice_Site_p.Y159*|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1108	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.Y1108*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCCCTACAGACAGCCTTTTGA	0.328																																						uc001lcg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3322-3324)TAC>TAG		attractin-like 1 precursor							152.0	147.0	149.0					10																	117221452		2203	4299	6502	SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:117221452C>G	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3323-1C>G	10.37:g.117221452C>G						ATRNL1_uc010qsm.1_Nonsense_Mutation_p.Y237*|ATRNL1_uc010qsn.1_Intron	p.Y1108*	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	22	3710	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1108			Laminin EGF-like 2.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	ENST00000355044.3	37	c.3324C>G	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.76|14.76	2.630352|2.630352	0.46944|0.46944	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000526373|ENST00000355044;ENST00000423111	.|.	.|.	.|.	5.05|5.05	3.21|3.21	0.36854|0.36854	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.30386|.	0.0763|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12967|.	-1.0527|.	4|.	.|0.02654	.|T	.|1	.|.	9.8367|9.8367	0.40973|0.40973	0.0:0.7194:0.0:0.2806|0.0:0.7194:0.0:0.2806	.|.	.|.	.|.	.|.	E|X	192|1108;159	.|.	.|ENSP00000347152:Y1108X	Q|Y	+|+	1|3	0|2	ATRNL1|ATRNL1	117211442|117211442	0.778000|0.778000	0.28640|0.28640	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	-0.009000|-0.009000	0.12765|0.12765	0.662000|0.662000	0.31006|0.31006	0.650000|0.650000	0.86243|0.86243	CAG|TAC		PASS	0.328	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Nonsense_Mutation	20	83	20	83	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124358505	124358505	+	Missense_Mutation	SNP	G	G	T	rs576855274	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr10:124358505G>T	ENST00000338354.3	+	26	3278	c.3172G>T	c.(3172-3174)Gat>Tat	p.D1058Y	DMBT1_ENST00000368956.2_Missense_Mutation_p.D559Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1048Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1058Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1048Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.D559Y|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1058	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.D1058Y(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CATTGTCCTGGATGATGTGCG	0.587																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)	7						c.(3172-3174)GAT>TAT		deleted in malignant brain tumors 1 isoform b							141.0	138.0	139.0					10																	124358505		1989	4165	6154	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358505G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3172G>T	10.37:g.124358505G>T	ENSP00000342210:p.Asp1058Tyr					DMBT1_uc001lgl.1_Missense_Mutation_p.D1048Y|DMBT1_uc001lgm.1_Missense_Mutation_p.D559Y|DMBT1_uc009xzz.1_Missense_Mutation_p.D1058Y|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.D19Y	p.D1058Y	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			26	3278	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1058			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.3172G>T		.	.	.	.	.	.	.	.	.	.	G	15.98	2.991603	0.54041	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	3.57	2.65	0.31530	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.210801	0.22902	U	0.054252	T	0.55162	0.1903	M	0.93420	3.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.984;0.99	T	0.67031	-0.5773	10	0.87932	D	0	.	13.4206	0.60996	0.0:0.1578:0.8422:0.0	.	565;1058;559;1048;1058	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	Y	1058;1058;1058;1058;1058;1058;559;1048;559;559;1058;1048;559	ENSP00000342210:D1058Y;ENSP00000343175:D1048Y;ENSP00000327747:D559Y;ENSP00000357905:D1058Y;ENSP00000357951:D1048Y;ENSP00000357952:D559Y	ENSP00000331522:D559Y	D	+	1	0	DMBT1	124348495	1.000000	0.71417	0.003000	0.11579	0.160000	0.22226	4.153000	0.58118	0.618000	0.30179	-0.255000	0.11280	GAT		PASS	0.587	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		87	261	87	261	---	---	---	---
CDHR5	53841	broad.mit.edu	37	11	619004	619004	+	Missense_Mutation	SNP	C	C	A	rs34362213		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:619004C>A	ENST00000358353.3	-	14	1877	c.1555G>T	c.(1555-1557)Ggg>Tgg	p.G519W	CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Missense_Mutation_p.G519W			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	519					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)	p.G519W(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGGGGCCCCCCGGGTGTGGAC	0.672																																						uc001lqj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1555-1557)GGG>TGG		mucin and cadherin-like isoform 1							51.0	67.0	62.0					11																	619004		2203	4299	6502	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:619004C>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1555G>T	11.37:g.619004C>A	ENSP00000351118:p.Gly519Trp					CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.G353W|CDHR5_uc009ycd.2_Missense_Mutation_p.G513W|CDHR5_uc001lql.2_Missense_Mutation_p.G519W	p.G519W	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			13	1660	-			519			Extracellular (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.1555G>T	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727722	0.48833	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.48836	0.8;0.8	3.75	2.83	0.33086	.	1.169930	0.06693	N	0.770015	T	0.53706	0.1813	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.47222	-0.9134	10	0.72032	D	0.01	-14.5341	6.4861	0.22089	0.0:0.8689:0.0:0.1311	.	513;519	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	W	519	ENSP00000380676:G519W;ENSP00000351118:G519W	ENSP00000351118:G519W	G	-	1	0	CDHR5	609004	0.002000	0.14202	0.005000	0.12908	0.016000	0.09150	1.092000	0.30927	2.112000	0.64535	0.549000	0.68633	GGG		PASS	0.672	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		64	150	64	150	---	---	---	---
MUC5AC	4586	broad.mit.edu	37	11	1156570	1156570	+	Splice_Site	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:1156570A>T	ENST00000356191.2	+	8	584		c.e8-1					P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTCCCTTTGCAGCTGGAGCTG	0.612																																						uc009ycr.1																			1	Unknown(1)		lung(1)		0						c.e7-2		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							118.0	112.0	114.0					11																	1156570		875	1990	2865	SO:0001630	splice_region_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1156570A>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.585-1A>T	11.37:g.1156570A>T							p.L197_splice	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	7	715	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Splice_Site	SNP	ENST00000356191.2	37	c.589_splice		.	.	.	.	.	.	.	.	.	.	a	9.295	1.051590	0.19827	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6053	0.56519	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC5AC	1146570	1.000000	0.71417	0.615000	0.29064	0.002000	0.02628	6.664000	0.74437	1.625000	0.50366	0.446000	0.29264	.		PASS	0.612	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382	Intron	48	113	48	113	---	---	---	---
OR52N4	390072	broad.mit.edu	37	11	5776353	5776353	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:5776353T>A	ENST00000317254.3	+	1	431	c.383T>A	c.(382-384)aTc>aAc	p.I128N	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I128N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TATGTGGCCATCTGCTACCCC	0.488																																						uc001mbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(382-384)ATC>AAC		olfactory receptor, family 52, subfamily N,							164.0	160.0	162.0					11																	5776353		2201	4297	6498	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776353T>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.383T>A	11.37:g.5776353T>A	ENSP00000323224:p.Ile128Asn					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.I128N	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	431	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	128			Cytoplasmic (Potential).		B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.383T>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372582	0.82573	.	.	ENSG00000181074	ENST00000317254	T	0.59638	0.25	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000133	T	0.80844	0.4701	H	0.97131	3.945	0.43994	D	0.996697	P	0.51057	0.941	P	0.54815	0.761	D	0.87200	0.2240	10	0.87932	D	0	.	15.2763	0.73745	0.0:0.0:0.0:1.0	.	128	Q8NGI2	O52N4_HUMAN	N	128	ENSP00000323224:I128N	ENSP00000323224:I128N	I	+	2	0	OR52N4	5732929	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	4.963000	0.63694	2.286000	0.76751	0.455000	0.32223	ATC		PASS	0.488	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		65	162	65	162	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5969286	5969286	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:5969286C>A	ENST00000329564.6	+	1	717	c.710C>A	c.(709-711)gCc>gAc	p.A237D		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237D(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAGGGTGCCGTGGCAAAG	0.522																																						uc010qzt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)GCC>GAC		olfactory receptor, family 56, subfamily A,							216.0	210.0	212.0					11																	5969286		2189	4294	6483	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969286C>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.710C>A	11.37:g.5969286C>A	ENSP00000331572:p.Ala237Asp						p.A237D	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	710	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	237			Cytoplasmic (Potential).		A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.710C>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793910	0.16327	.	.	ENSG00000184478	ENST00000329564	T	0.00123	8.7	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.00440	0.0014	M	0.92880	3.355	0.19945	N	0.999941	B	0.31989	0.35	B	0.43575	0.424	T	0.04065	-1.0980	10	0.87932	D	0	-25.5832	13.2016	0.59772	0.1598:0.8401:0.0:0.0	.	237	Q8NH54	O56A3_HUMAN	D	237	ENSP00000331572:A237D	ENSP00000331572:A237D	A	+	2	0	OR56A3	5925862	0.000000	0.05858	0.159000	0.22649	0.009000	0.06853	0.044000	0.13992	2.687000	0.91594	0.650000	0.86243	GCC		PASS	0.522	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		103	196	103	196	---	---	---	---
RRP8	23378	broad.mit.edu	37	11	6622767	6622767	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:6622767G>A	ENST00000254605.6	-	3	646	c.529C>T	c.(529-531)Cct>Tct	p.P177S	ILK_ENST00000420936.2_5'Flank|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000299421.4_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000528995.1_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	177					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.P177S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GGGGGTTTAGGGGAAGTGGAC	0.527																																						uc001med.2																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)CCT>TCT		ribosomal RNA processing 8, methyltransferase,							109.0	105.0	106.0					11																	6622767		2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622767G>A	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.529C>T	11.37:g.6622767G>A	ENSP00000254605:p.Pro177Ser					ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	p.P177S	NM_015324	NP_056139	O43159	RRP8_HUMAN			3	608	-			177					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.529C>T	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454512	0.26161	.	.	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.44881	1.55;0.91	5.05	-1.98	0.07480	.	0.599517	0.16110	N	0.229150	T	0.15046	0.0363	N	0.11560	0.145	0.22305	N	0.999215	B	0.12630	0.006	B	0.10450	0.005	T	0.16305	-1.0407	10	0.14252	T	0.57	-23.891	1.1662	0.01816	0.2574:0.2736:0.3288:0.1402	.	177	O43159	RRP8_HUMAN	S	177	ENSP00000254605:P177S;ENSP00000436246:P177S	ENSP00000254605:P177S	P	-	1	0	RRP8	6579343	0.001000	0.12720	0.000000	0.03702	0.109000	0.19521	-0.733000	0.04898	-0.596000	0.05821	0.655000	0.94253	CCT		PASS	0.527	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		62	173	62	173	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6653340	6653340	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:6653340C>A	ENST00000299441.3	-	6	3814	c.3403G>T	c.(3403-3405)Gga>Tga	p.G1135*	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1135	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1135*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATTGGGTCCTGAGTCTCGG	0.612																																						uc001mem.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(3403-3405)GGA>TGA		dachsous 1 precursor							79.0	78.0	78.0					11																	6653340		2201	4296	6497	SO:0001587	stop_gained	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653340C>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3403G>T	11.37:g.6653340C>A	ENSP00000299441:p.Gly1135*						p.G1135*	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	3813	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1135			Cadherin 11.|Extracellular (Potential).		O15098	Nonsense_Mutation	SNP	ENST00000299441.3	37	c.3403G>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	45	11.355656	0.99550	.	.	ENSG00000166341	ENST00000299441	.	.	.	4.66	4.66	0.58398	.	0.000000	0.45606	D	0.000341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.0688	0.86567	0.0:1.0:0.0:0.0	.	.	.	.	X	1135	.	ENSP00000299441:G1135X	G	-	1	0	DCHS1	6609916	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	5.432000	0.66514	2.584000	0.87258	0.561000	0.74099	GGA		PASS	0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	21	9	21	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	21592424	21592424	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:21592424G>A	ENST00000357134.5	+	18	2247	c.2095G>A	c.(2095-2097)Ggt>Agt	p.G699S	NELL1_ENST00000325319.5_Missense_Mutation_p.G642S|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.G652S|NELL1_ENST00000298925.5_Missense_Mutation_p.G727S	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	699	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.G699C(2)|p.G699S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGACCAAAATGGTCACAAGCT	0.473																																						uc001mqe.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|large_intestine(1)	3						c.(2095-2097)GGT>AGT		nel-like 1 isoform 1 precursor							194.0	178.0	183.0					11																	21592424		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592424G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2095G>A	11.37:g.21592424G>A	ENSP00000349654:p.Gly699Ser					NELL1_uc001mqf.2_Missense_Mutation_p.G652S|NELL1_uc009yid.2_Missense_Mutation_p.G727S|NELL1_uc010rdo.1_Missense_Mutation_p.G642S|NELL1_uc010rdp.1_Missense_Mutation_p.G412S|NELL1_uc001mqh.2_Missense_Mutation_p.G244S	p.G699S	NM_006157	NP_006148	Q92832	NELL1_HUMAN			18	2248	+			699			VWFC 4.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2095G>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	35	5.556283	0.96514	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.16	6.16	0.99307	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D	0.89917	0.989;0.991;0.991;1.0;0.991	P;P;P;D;P	0.87578	0.83;0.894;0.894;0.998;0.837	T	0.78743	-0.2085	10	0.56958	D	0.05	-9.952	20.8598	0.99761	0.0:0.0:1.0:0.0	.	642;727;244;652;699	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	S	727;699;642;652	ENSP00000298925:G727S;ENSP00000349654:G699S;ENSP00000317837:G642S;ENSP00000437170:G652S	ENSP00000298925:G727S	G	+	1	0	NELL1	21549000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.447000	0.97595	2.937000	0.99478	0.650000	0.86243	GGT		PASS	0.473	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		57	194	57	194	---	---	---	---
PDHX	8050	broad.mit.edu	37	11	34988317	34988317	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:34988317C>T	ENST00000227868.4	+	6	856	c.772C>T	c.(772-774)Cct>Tct	p.P258S	PDHX_ENST00000448838.3_Missense_Mutation_p.P243S|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	258					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)	p.P258S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TTATCCCCGGCCTGTGATCCC	0.493																																						uc001mvt.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(772-774)CCT>TCT		pyruvate dehydrogenase complex, component X							106.0	100.0	102.0					11																	34988317		2202	4298	6500	SO:0001583	missense	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34988317C>T	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.772C>T	11.37:g.34988317C>T	ENSP00000227868:p.Pro258Ser					PDHX_uc010rep.1_Missense_Mutation_p.P243S|PDHX_uc010req.1_Intron	p.P258S	NM_003477	NP_003468	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		6	1298	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	258					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	c.772C>T	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	C	8.673	0.903205	0.17760	.	.	ENSG00000110435	ENST00000448838;ENST00000227868	T;T	0.26518	2.34;1.73	5.54	4.63	0.57726	.	0.104145	0.64402	D	0.000003	T	0.16171	0.0389	N	0.24115	0.695	0.80722	D	1	B;B	0.32350	0.366;0.007	B;B	0.23419	0.046;0.017	T	0.05053	-1.0909	10	0.51188	T	0.08	-2.6724	11.5728	0.50843	0.0:0.9171:0.0:0.0829	.	243;258	E9PB14;O00330	.;ODPX_HUMAN	S	243;258	ENSP00000389404:P243S;ENSP00000227868:P258S	ENSP00000227868:P258S	P	+	1	0	PDHX	34944893	1.000000	0.71417	0.990000	0.47175	0.004000	0.04260	4.604000	0.61112	1.386000	0.46466	-0.272000	0.10252	CCT		PASS	0.493	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		42	151	42	151	---	---	---	---
GYLTL1B	120071	broad.mit.edu	37	11	45950301	45950301	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:45950301G>A	ENST00000531526.1	+	14	2182	c.2071G>A	c.(2071-2073)Gac>Aac	p.D691N	GYLTL1B_ENST00000536139.1_Missense_Mutation_p.D660N|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.D691N|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.D660N|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.D691N	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	691					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.D691N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GGCCCTCAAGGACGAATTCCA	0.662																																						uc001nbv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2071-2073)GAC>AAC		glycosyltransferase-like 1B							77.0	68.0	71.0					11																	45950301		2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45950301G>A		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.2071G>A	11.37:g.45950301G>A	ENSP00000432869:p.Asp691Asn					GYLTL1B_uc001nbw.1_Missense_Mutation_p.D660N|GYLTL1B_uc001nbx.1_Missense_Mutation_p.D691N|GYLTL1B_uc001nby.1_Missense_Mutation_p.D374N|GYLTL1B_uc001nbz.1_Silent_p.R39R	p.D691N	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	14	2182	+			691			Lumenal (Potential).		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.2071G>A	CCDS31473.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.250803|4.250803	0.80135|0.80135	.|.	.|.	ENSG00000165905|ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139|ENST00000531847	T;T;T;T;T|.	0.45276|.	0.91;0.9;0.9;0.9;0.91|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.264859|.	0.42053|.	D|.	0.000773|.	T|T	0.69886|0.69886	0.3161|0.3161	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	B;B;B|.	0.21520|.	0.057;0.006;0.003|.	B;B;B|.	0.27715|.	0.082;0.023;0.024|.	T|T	0.65142|0.65142	-0.6240|-0.6240	10|5	0.36615|.	T|.	0.2|.	-8.6646|-8.6646	19.6939|19.6939	0.96016|0.96016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	660;660;691|.	B3KP69;E9PIZ2;Q8N3Y3|.	.;.;LARG2_HUMAN|.	N|E	660;691;691;691;660|52	ENSP00000431932:D660N;ENSP00000432869:D691N;ENSP00000385235:D691N;ENSP00000324570:D691N;ENSP00000445044:D660N|.	ENSP00000324570:D691N|.	D|G	+|+	1|2	0|0	GYLTL1B|GYLTL1B	45906877|45906877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.659000|7.659000	0.83766|0.83766	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	GAC|GGA		PASS	0.662	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		40	93	40	93	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48347191	48347191	+	Silent	SNP	G	G	T	rs544316212		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:48347191G>T	ENST00000319856.4	+	1	720	c.699G>T	c.(697-699)ctG>ctT	p.L233L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L233L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TAATCTGCCTGTTGAACTTCC	0.512																																						uc010rhv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(697-699)CTG>CTT		olfactory receptor, family 4, subfamily C,							281.0	187.0	219.0					11																	48347191		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347191G>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.699G>T	11.37:g.48347191G>T							p.L233L	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	699	+			206			Helical; Name=5; (Potential).		B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.699G>T	CCDS31489.1																																																																																				PASS	0.512	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		5	133	5	133	---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51411694	51411694	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:51411694C>A	ENST00000319760.6	-	1	754	c.702G>T	c.(700-702)ttG>ttT	p.L234F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L234F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGCAGGTAGACAAGGCTTTAC	0.408																																						uc001nhi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(700-702)TTG>TTT		olfactory receptor, family 4, subfamily A,							65.0	64.0	64.0					11																	51411694		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411694C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.702G>T	11.37:g.51411694C>A	ENSP00000367664:p.Leu234Phe						p.L234F	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	702	-		all_lung(304;0.236)	234			Helical; Name=6; (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.702G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	4.278	0.050676	0.08243	.	.	ENSG00000221840	ENST00000319760	T	0.00016	9.13	1.93	0.918	0.19386	GPCR, rhodopsin-like superfamily (1);	0.241555	0.20265	N	0.095788	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B	0.31989	0.35	P	0.46585	0.521	T	0.16897	-1.0387	10	0.66056	D	0.02	.	7.6019	0.28081	0.0:0.4705:0.5295:0.0	.	234	Q8NH83	OR4A5_HUMAN	F	234	ENSP00000367664:L234F	ENSP00000367664:L234F	L	-	3	2	OR4A5	51268270	0.000000	0.05858	0.514000	0.27761	0.032000	0.12392	-1.506000	0.02271	0.332000	0.23536	0.162000	0.16502	TTG		PASS	0.408	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		31	121	31	121	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735485	55735485	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:55735485C>A	ENST00000312345.2	-	1	505	c.455G>T	c.(454-456)tGc>tTc	p.C152F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C152F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAAAATTTGGCATGTTTCCCC	0.403																																						uc010rit.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(454-456)TGC>TTC		olfactory receptor, family 10, subfamily AG,							84.0	81.0	82.0					11																	55735485		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735485C>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.455G>T	11.37:g.55735485C>A	ENSP00000311477:p.Cys152Phe						p.C152F	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	455	-	Esophageal squamous(21;0.0137)		152			Extracellular (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.455G>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	1.030	-0.682264	0.03353	.	.	ENSG00000174970	ENST00000312345	T	0.32023	1.47	5.47	0.21	0.15231	GPCR, rhodopsin-like superfamily (1);	1.243340	0.05325	N	0.527337	T	0.18509	0.0444	N	0.26092	0.79	0.09310	N	1	B	0.15141	0.012	B	0.17979	0.02	T	0.24190	-1.0167	10	0.13470	T	0.59	.	3.4742	0.07578	0.1904:0.2584:0.0:0.5511	.	152	Q8NH19	O10AG_HUMAN	F	152	ENSP00000311477:C152F	ENSP00000311477:C152F	C	-	2	0	OR10AG1	55492061	0.000000	0.05858	0.079000	0.20413	0.736000	0.42039	-3.939000	0.00330	0.162000	0.19483	0.477000	0.44152	TGC		PASS	0.403	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		38	104	38	104	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872597	55872597	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:55872597G>T	ENST00000313503.1	+	1	79	c.79G>T	c.(79-81)Gct>Tct	p.A27S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A27S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GATCCAGATGGCTCTGTTTAT	0.443										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(79-81)GCT>TCT		olfactory receptor, family 8, subfamily H,							252.0	242.0	245.0					11																	55872597		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872597G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.79G>T	11.37:g.55872597G>T	ENSP00000323982:p.Ala27Ser	HNSCC(53;0.14)					p.A27S	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	79	+	Esophageal squamous(21;0.00693)		27			Helical; Name=1; (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.79G>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	0.183	-1.060310	0.01950	.	.	ENSG00000181767	ENST00000313503	T	0.00438	7.42	3.58	0.137	0.14787	.	0.617239	0.14441	N	0.319437	T	0.00210	0.0006	L	0.31207	0.915	0.09310	N	1	P	0.40794	0.729	B	0.31390	0.129	T	0.45381	-0.9265	10	0.56958	D	0.05	.	0.8996	0.01271	0.2471:0.3296:0.2553:0.168	.	27	Q8N162	OR8H2_HUMAN	S	27	ENSP00000323982:A27S	ENSP00000323982:A27S	A	+	1	0	OR8H2	55629173	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.501000	0.06398	0.269000	0.21961	0.440000	0.28878	GCT		PASS	0.443	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		117	434	117	434	---	---	---	---
OR8K3	219473	broad.mit.edu	37	11	56086487	56086487	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:56086487G>C	ENST00000312711.1	+	1	705	c.705G>C	c.(703-705)aaG>aaC	p.K235N		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K235N(2)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GCAGACAAAAGGCTTTTTCTA	0.433																																						uc010rjf.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(703-705)AAG>AAC		olfactory receptor, family 8, subfamily K,							97.0	92.0	94.0					11																	56086487		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086487G>C	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.705G>C	11.37:g.56086487G>C	ENSP00000323555:p.Lys235Asn						p.K235N	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	705	+	Esophageal squamous(21;0.00448)		235			Cytoplasmic (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.705G>C	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236893	0.22711	.	.	ENSG00000181689	ENST00000312711	T	0.00374	7.72	4.28	-1.66	0.08265	GPCR, rhodopsin-like superfamily (1);	0.094558	0.46145	D	0.000314	T	0.01387	0.0045	H	0.97214	3.96	0.28516	N	0.913284	D	0.76494	0.999	D	0.85130	0.997	T	0.05971	-1.0853	10	0.87932	D	0	.	10.8094	0.46538	0.5213:0.0:0.4787:0.0	.	235	Q8NH51	OR8K3_HUMAN	N	235	ENSP00000323555:K235N	ENSP00000323555:K235N	K	+	3	2	OR8K3	55843063	0.931000	0.31567	0.394000	0.26270	0.019000	0.09904	-0.071000	0.11505	-0.174000	0.10743	-0.373000	0.07131	AAG		PASS	0.433	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		41	128	41	128	---	---	---	---
GLYATL2	219970	broad.mit.edu	37	11	58602171	58602171	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:58602171C>A	ENST00000287275.1	-	6	1006	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	GLYATL2_ENST00000533636.1_5'Flank|GLYATL2_ENST00000532258.1_Missense_Mutation_p.G206C	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	206						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)	p.G206C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CCCTCTGGACCCAGCACACCA	0.468																																						uc001nnd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(616-618)GGT>TGT		glycine-N-acyltransferase-like 2	Glycine(DB00145)						66.0	68.0	67.0					11																	58602171		2147	4269	6416	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58602171C>A	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.616G>T	11.37:g.58602171C>A	ENSP00000287275:p.Gly206Cys					GLYATL2_uc009ymq.2_Missense_Mutation_p.G206C	p.G206C	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN			6	747	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	206					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.616G>T	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714960	0.48622	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.16897	2.31;2.31	4.34	2.42	0.29668	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.425022	0.20723	U	0.086876	T	0.33059	0.0850	M	0.73962	2.25	0.09310	N	1	D	0.76494	0.999	P	0.61397	0.888	T	0.05209	-1.0899	10	0.66056	D	0.02	.	7.2937	0.26380	0.0:0.7822:0.0:0.2178	.	206	Q8WU03	GLYL2_HUMAN	C	206	ENSP00000287275:G206C;ENSP00000434277:G206C	ENSP00000287275:G206C	G	-	1	0	GLYATL2	58358747	0.001000	0.12720	0.023000	0.16930	0.051000	0.14879	0.776000	0.26704	0.840000	0.34995	0.573000	0.79308	GGT		PASS	0.468	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		29	113	29	113	---	---	---	---
MS4A6E	245802	broad.mit.edu	37	11	60105257	60105257	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:60105257C>A	ENST00000300182.4	+	2	256	c.191C>A	c.(190-192)gCc>gAc	p.A64D		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	64						integral component of membrane (GO:0016021)		p.A64D(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GCTCTGTCTGCCCTGGTGGGT	0.488																																						uc001npd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GCC>GAC		membrane-spanning 4-domains, subfamily A, member							169.0	154.0	159.0					11																	60105257		2203	4300	6503	SO:0001583	missense	245802					integral to membrane	receptor activity	g.chr11:60105257C>A	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.191C>A	11.37:g.60105257C>A	ENSP00000300182:p.Ala64Asp						p.A64D	NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN			2	205	+			64			Helical; (Potential).		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	c.191C>A	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209408	0.39003	.	.	ENSG00000166926	ENST00000300182	T	0.03889	3.77	2.03	2.03	0.26663	.	0.520418	0.18758	N	0.131968	T	0.16471	0.0396	M	0.76170	2.325	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.01356	-1.1376	10	0.87932	D	0	.	7.4499	0.27231	0.0:1.0:0.0:0.0	.	64	Q96DS6	M4A6E_HUMAN	D	64	ENSP00000300182:A64D	ENSP00000300182:A64D	A	+	2	0	MS4A6E	59861833	0.380000	0.25131	0.004000	0.12327	0.057000	0.15508	1.562000	0.36353	1.122000	0.41944	0.195000	0.17529	GCC		PASS	0.488	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			71	247	71	247	---	---	---	---
SCGB2A1	4246	broad.mit.edu	37	11	61977983	61977983	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:61977983A>G	ENST00000244930.4	+	2	218	c.154A>G	c.(154-156)Agt>Ggt	p.S52G	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	52					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)	p.S52G(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTTCATAGACAGTGATGCCGC	0.428																																						uc001nta.2																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)AGT>GGT		secretoglobin, family 2A, member 1 precursor							115.0	115.0	115.0					11																	61977983		2202	4299	6501	SO:0001583	missense	4246					extracellular region	androgen binding	g.chr11:61977983A>G	AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"""Secretoglobins"""	7051	protein-coding gene	gene with protein product	"""lipophilin C"", ""mammaglobin B"", ""lacryglobin"""	604398	"""mammaglobin 2"""	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.154A>G	11.37:g.61977983A>G	ENSP00000244930:p.Ser52Gly						p.S52G	NM_002407	NP_002398	O75556	SG2A1_HUMAN			2	218	+			52						Missense_Mutation	SNP	ENST00000244930.4	37	c.154A>G	CCDS8016.1	.	.	.	.	.	.	.	.	.	.	A	6.674	0.492921	0.12702	.	.	ENSG00000124939	ENST00000244930	T	0.42131	0.98	3.33	-6.67	0.01783	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30563	-0.9974	8	0.12766	T	0.61	.	7.4088	0.27006	0.2591:0.1594:0.5815:0.0	.	52	O75556	SG2A1_HUMAN	G	52	ENSP00000244930:S52G	ENSP00000244930:S52G	S	+	1	0	SCGB2A1	61734559	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.040000	0.03546	-1.479000	0.01867	0.454000	0.30748	AGT		PASS	0.428	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1	NM_002407		71	221	71	221	---	---	---	---
RCOR2	283248	broad.mit.edu	37	11	63681958	63681958	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:63681958G>A	ENST00000301459.4	-	6	923	c.536C>T	c.(535-537)aCc>aTc	p.T179I	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	179	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T179I(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TCGGCTGCGGGTCTTCTTCCA	0.602																																						uc001nyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(535-537)ACC>ATC		REST corepressor 2							62.0	73.0	69.0					11																	63681958		2201	4297	6498	SO:0001583	missense	283248				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr11:63681958G>A	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.536C>T	11.37:g.63681958G>A	ENSP00000301459:p.Thr179Ile						p.T179I	NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN			6	924	-			179			SANT 1.		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.536C>T	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542525	0.85917	.	.	ENSG00000167771	ENST00000301459	T	0.30182	1.54	4.37	4.37	0.52481	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.120487	0.56097	D	0.000040	T	0.54695	0.1874	M	0.70787	2.145	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.59690	-0.7407	10	0.59425	D	0.04	.	16.0962	0.81127	0.0:0.0:1.0:0.0	.	179	Q8IZ40	RCOR2_HUMAN	I	179	ENSP00000301459:T179I	ENSP00000301459:T179I	T	-	2	0	RCOR2	63438534	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.779000	0.99018	2.152000	0.67230	0.561000	0.74099	ACC		PASS	0.602	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		56	186	56	186	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64418751	64418751	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:64418751A>T	ENST00000377551.1	-	13	3105	c.2894T>A	c.(2893-2895)tTc>tAc	p.F965Y	NRXN2_ENST00000409571.1_Missense_Mutation_p.F958Y|NRXN2_ENST00000265459.6_Missense_Mutation_p.F965Y|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.F925Y			Q9P2S2	NRX2A_HUMAN	neurexin 2	965	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.F965Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GATGACAATGAAGTCATTGCC	0.587											OREG0004037|OREG0021057	type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oar.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(2893-2895)TTC>TAC		neurexin 2 isoform alpha-1 precursor							67.0	55.0	59.0					11																	64418751		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64418751A>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2894T>A	11.37:g.64418751A>T	ENSP00000366774:p.Phe965Tyr		OREG0004037|OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1076	NRXN2_uc001oas.2_Missense_Mutation_p.F925Y|NRXN2_uc001oaq.2_Missense_Mutation_p.F632Y	p.F965Y	NM_015080	NP_055895	P58401	NRX2B_HUMAN			15	3333	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2894T>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407786	0.83340	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	4.2	4.2	0.49525	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.118823	0.29861	U	0.011014	D	0.85852	0.5793	L	0.56280	1.765	0.49389	D	0.999789	D;D;B	0.89917	1.0;0.996;0.211	D;D;B	0.79784	0.993;0.983;0.158	D	0.86682	0.1917	10	0.72032	D	0.01	.	11.279	0.49184	1.0:0.0:0.0:0.0	.	925;965;711	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	Y	965;925;965;925;958	ENSP00000366774:F965Y;ENSP00000366782:F925Y;ENSP00000265459:F965Y;ENSP00000386416:F958Y	ENSP00000265459:F965Y	F	-	2	0	NRXN2	64175327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.088000	0.76901	1.763000	0.52060	0.459000	0.35465	TTC		PASS	0.587	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		28	89	28	89	---	---	---	---
P2RY2	5029	broad.mit.edu	37	11	72945604	72945604	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:72945604G>C	ENST00000311131.2	+	3	867	c.400G>C	c.(400-402)Ggc>Cgc	p.G134R	P2RY2_ENST00000393596.2_Missense_Mutation_p.G134R|P2RY2_ENST00000393597.2_Missense_Mutation_p.G134R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	134					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.G134R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGGTGTCTGGGCGTCTTACG	0.672																																						uc001otj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(400-402)GGC>CGC		purinergic receptor P2Y2	Suramin(DB04786)						82.0	77.0	79.0					11																	72945604		2200	4293	6493	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945604G>C	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.400G>C	11.37:g.72945604G>C	ENSP00000310305:p.Gly134Arg					P2RY2_uc001otk.2_Missense_Mutation_p.G134R|P2RY2_uc001otl.2_Missense_Mutation_p.G134R	p.G134R	NM_002564	NP_002555	P41231	P2RY2_HUMAN			3	733	+			134			Cytoplasmic (Potential).		B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.400G>C	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676001	0.67928	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.37235	1.21;1.21;1.21	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71896	-0.4454	10	0.87932	D	0	.	18.0912	0.89476	0.0:0.0:1.0:0.0	.	134	P41231	P2RY2_HUMAN	R	134	ENSP00000377222:G134R;ENSP00000310305:G134R;ENSP00000377221:G134R	ENSP00000310305:G134R	G	+	1	0	P2RY2	72623252	1.000000	0.71417	0.998000	0.56505	0.195000	0.23768	9.745000	0.98856	2.521000	0.84997	0.655000	0.94253	GGC		PASS	0.672	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		15	168	15	168	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78381554	78381554	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:78381554C>T	ENST00000278550.7	-	32	6298	c.5836G>A	c.(5836-5838)Gag>Aag	p.E1946K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1946					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.E1946K(2)									TTGTCGAACTCAAAGATATAC	0.532																																						uc001ozl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(5836-5838)GAG>AAG		odz, odd Oz/ten-m homolog 4							73.0	76.0	75.0					11																	78381554		2002	4167	6169	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78381554C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5836G>A	11.37:g.78381554C>T	ENSP00000278550:p.Glu1946Lys					ODZ4_uc001ozk.3_Missense_Mutation_p.E171K|ODZ4_uc009yvb.1_Missense_Mutation_p.E530K	p.E1946K	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	6299	-			1946			Extracellular (Potential).|YD 6.		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.5836G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722766	0.89298	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89810	-2.57;0.87	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.93802	0.8018	M	0.70275	2.135	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.93070	0.6482	9	.	.	.	.	18.6946	0.91596	0.0:1.0:0.0:0.0	.	1946	Q6N022	TEN4_HUMAN	K	1946;410	ENSP00000278550:E1946K;ENSP00000431711:E410K	.	E	-	1	0	ODZ4	78059202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.716000	0.92895	0.655000	0.94253	GAG		PASS	0.532	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			11	91	11	91	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85445676	85445676	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:85445676C>A	ENST00000528231.1	-	6	970	c.693G>T	c.(691-693)aaG>aaT	p.K231N	SYTL2_ENST00000389960.4_Missense_Mutation_p.K231N|SYTL2_ENST00000527523.1_Missense_Mutation_p.K183N|SYTL2_ENST00000316356.4_Missense_Mutation_p.K232N|SYTL2_ENST00000524452.1_Missense_Mutation_p.K231N	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	231					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.K232N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGATTGGAGCCTTGATTTGGG	0.408																																						uc010rth.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(691-693)AAG>AAT		synaptotagmin-like 2 isoform g							111.0	111.0	111.0					11																	85445676		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445676C>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.693G>T	11.37:g.85445676C>A	ENSP00000431701:p.Lys231Asn					SYTL2_uc010rtg.1_Missense_Mutation_p.K232N|SYTL2_uc010rti.1_Missense_Mutation_p.K231N|SYTL2_uc010rtj.1_Missense_Mutation_p.K183N|SYTL2_uc001pbf.3_Missense_Mutation_p.K231N|SYTL2_uc010rtf.1_Missense_Mutation_p.K89N	p.K231N	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	969	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	231					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.693G>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401350	0.42613	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.30182	1.61;1.65;1.65;1.54;1.61	5.92	0.404	0.16355	.	.	.	.	.	T	0.44159	0.1280	L	0.57536	1.79	0.80722	D	1	D;D;D;D;P	0.69078	0.997;0.995;0.991;0.997;0.801	D;P;P;D;B	0.65233	0.933;0.881;0.764;0.933;0.344	T	0.21759	-1.0236	8	.	.	.	.	10.5359	0.45004	0.0:0.5148:0.0:0.4852	.	183;231;231;232;89	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	N	231;232;231;183;231	ENSP00000374610:K231N;ENSP00000318803:K232N;ENSP00000431701:K231N;ENSP00000434010:K183N;ENSP00000435238:K231N	.	K	-	3	2	SYTL2	85123324	0.016000	0.18221	0.792000	0.32020	0.658000	0.38924	0.028000	0.13644	0.030000	0.15379	-0.145000	0.13849	AAG		PASS	0.408	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		46	159	46	159	---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102487666	102487666	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:102487666G>T	ENST00000260228.2	-	2	263	c.251C>A	c.(250-252)aCc>aAc	p.T84N	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	74					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T84N(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TAACTTCCCGGTGACTTGGAG	0.478																																						uc001phc.2																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|skin(1)	2						c.(250-252)ACC>AAC		matrix metalloproteinase 20 preproprotein							189.0	161.0	171.0					11																	102487666		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102487666G>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.251C>A	11.37:g.102487666G>T	ENSP00000260228:p.Thr84Asn						p.T84N	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	2	264	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	84					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.251C>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261543	0.80358	.	.	ENSG00000137674	ENST00000260228	T	0.54675	0.56	5.09	5.09	0.68999	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78477	0.4289	M	0.90425	3.115	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.82788	-0.0284	10	0.87932	D	0	.	18.6636	0.91479	0.0:0.0:1.0:0.0	.	84	O60882	MMP20_HUMAN	N	84	ENSP00000260228:T84N	ENSP00000260228:T84N	T	-	2	0	MMP20	101992876	1.000000	0.71417	0.956000	0.39512	0.553000	0.35397	4.340000	0.59328	2.804000	0.96469	0.655000	0.94253	ACC		PASS	0.478	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			23	86	23	86	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123893758	123893758	+	Silent	SNP	G	G	T	rs140807602	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:123893758G>T	ENST00000375024.1	+	1	39	c.39G>T	c.(37-39)acG>acT	p.T13T		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T13T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCATCCTCACGGGCCTTCCCC	0.562																																						uc010sad.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(37-39)ACG>ACT		olfactory receptor, family 10, subfamily G,							180.0	174.0	176.0					11																	123893758		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893758G>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.39G>T	11.37:g.123893758G>T							p.T13T	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	39	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	13			Extracellular (Potential).			Silent	SNP	ENST00000375024.1	37	c.39G>T	CCDS31703.1																																																																																				PASS	0.562	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		102	308	102	308	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123894186	123894186	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:123894186C>T	ENST00000375024.1	+	1	467	c.467C>T	c.(466-468)gCt>gTt	p.A156V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A156V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGCACTCTGCTGTCCAGACC	0.552																																						uc010sad.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(466-468)GCT>GTT		olfactory receptor, family 10, subfamily G,							163.0	139.0	147.0					11																	123894186		2201	4297	6498	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894186C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.467C>T	11.37:g.123894186C>T	ENSP00000364164:p.Ala156Val						p.A156V	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	467	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	156			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000375024.1	37	c.467C>T	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	C	9.425	1.083994	0.20309	.	.	ENSG00000236981	ENST00000375024	T	0.00028	8.92	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000284	T	0.00144	0.0004	N	0.16656	0.425	0.33703	D	0.614743	P	0.51791	0.948	D	0.64506	0.926	D	0.86176	0.1603	10	0.17369	T	0.5	.	10.5381	0.45016	0.1935:0.8065:0.0:0.0	.	156	Q8NGN4	O10G9_HUMAN	V	156	ENSP00000364164:A156V	ENSP00000364164:A156V	A	+	2	0	OR10G9	123399396	0.000000	0.05858	0.985000	0.45067	0.495000	0.33615	-0.408000	0.07169	1.938000	0.56188	0.655000	0.94253	GCT		PASS	0.552	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		145	346	145	346	---	---	---	---
OR8D1	283159	broad.mit.edu	37	11	124180337	124180337	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:124180337A>T	ENST00000357821.2	-	1	396	c.326T>A	c.(325-327)gTg>gAg	p.V109E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V109E(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		ACCCTCAGCCACCACAAAGAC	0.463																																						uc010sag.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(325-327)GTG>GAG		olfactory receptor, family 8, subfamily D,							72.0	68.0	69.0					11																	124180337		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180337A>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.326T>A	11.37:g.124180337A>T	ENSP00000350474:p.Val109Glu						p.V109E	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	326	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	109			Helical; Name=3; (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.326T>A	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	a	14.14	2.447587	0.43429	.	.	ENSG00000196341	ENST00000357821	T	0.02944	4.1	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.248963	0.20493	U	0.091257	T	0.04634	0.0126	L	0.41415	1.275	0.09310	N	1	P	0.48640	0.913	P	0.50352	0.638	T	0.33624	-0.9861	10	0.87932	D	0	.	4.7328	0.12974	0.7479:0.0:0.2521:0.0	.	109	Q8WZ84	OR8D1_HUMAN	E	109	ENSP00000350474:V109E	ENSP00000350474:V109E	V	-	2	0	OR8D1	123685547	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.028000	0.13644	1.813000	0.52934	0.416000	0.27883	GTG		PASS	0.463	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		23	44	23	44	---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125472715	125472715	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:125472715G>T	ENST00000529196.1	+	6	495	c.289G>T	c.(289-291)Gct>Tct	p.A97S	STT3A_ENST00000531491.1_Missense_Mutation_p.A5S|STT3A_ENST00000392708.4_Missense_Mutation_p.A97S			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	97					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.A97S(1)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GATCACCTCTGCTGCAATCTA	0.428																																						uc001qcd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)GCT>TCT		integral membrane protein 1							230.0	203.0	212.0					11																	125472715		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125472715G>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.289G>T	11.37:g.125472715G>T	ENSP00000436962:p.Ala97Ser					STT3A_uc009zbm.2_Missense_Mutation_p.A97S|STT3A_uc001qce.2_Missense_Mutation_p.A97S|STT3A_uc010sbg.1_Missense_Mutation_p.A5S	p.A97S	NM_152713	NP_689926	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	5	399	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	97			Lumenal (Potential).		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.289G>T	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525214	0.85600	.	.	ENSG00000134910	ENST00000527606;ENST00000392708;ENST00000529196;ENST00000531491;ENST00000525652;ENST00000529886	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.74092	0.3671	M	0.62016	1.91	0.80722	D	1	B;B	0.30664	0.289;0.289	B;B	0.42625	0.393;0.393	T	0.71234	-0.4653	9	0.46703	T	0.11	-15.0123	19.7913	0.96458	0.0:0.0:1.0:0.0	.	5;97	E9PNQ1;P46977	.;STT3A_HUMAN	S	97;97;97;5;97;97	.	ENSP00000376472:A97S	A	+	1	0	STT3A	124977925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	GCT		PASS	0.428	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		39	169	39	169	---	---	---	---
RPUSD4	84881	broad.mit.edu	37	11	126075379	126075379	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr11:126075379C>A	ENST00000298317.4	-	5	833	c.780G>T	c.(778-780)gaG>gaT	p.E260D	RPUSD4_ENST00000533628.1_Missense_Mutation_p.E229D|RPUSD4_ENST00000534393.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	260					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.E260D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TGGGCTGGAGCTCCACGAGGG	0.567																																						uc001qde.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(778-780)GAG>GAT		RNA pseudouridylate synthase domain containing 4							92.0	86.0	88.0					11																	126075379		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126075379C>A	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.780G>T	11.37:g.126075379C>A	ENSP00000298317:p.Glu260Asp					RPUSD4_uc010sbl.1_Missense_Mutation_p.E67D|RPUSD4_uc009zbz.2_Missense_Mutation_p.E229D|RPUSD4_uc009zby.2_RNA	p.E260D	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	5	834	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	260					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.780G>T	CCDS8469.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.445087|3.445087	0.63178|0.63178	.|.	.|.	ENSG00000165526|ENSG00000165526	ENST00000532674|ENST00000298317;ENST00000533628	T|T;T	0.25749|0.15834	1.78|2.39;2.39	5.72|5.72	4.81|4.81	0.61882|0.61882	.|Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37320|0.37320	0.0999|0.0999	M|M	0.77616|0.77616	2.38|2.38	0.47621|0.47621	D|D	0.999476|0.999476	.|D;P	.|0.54601	.|0.967;0.898	.|P;P	.|0.58620	.|0.842;0.733	T|T	0.25572|0.25572	-1.0128|-1.0128	7|10	0.87932|0.72032	D|D	0|0.01	-25.6842|-25.6842	11.983|11.983	0.53131|0.53131	0.0:0.9209:0.0:0.0791|0.0:0.9209:0.0:0.0791	.|.	.|229;260	.|E9PML2;Q96CM3	.|.;RUSD4_HUMAN	S|D	170|260;229	ENSP00000433709:A170S|ENSP00000298317:E260D;ENSP00000433065:E229D	ENSP00000433709:A170S|ENSP00000298317:E260D	A|E	-|-	1|3	0|2	RPUSD4|RPUSD4	125580589|125580589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.432000|0.432000	0.31715|0.31715	2.780000|2.780000	0.47742|0.47742	1.414000|1.414000	0.47017|0.47017	0.655000|0.655000	0.94253|0.94253	GCT|GAG		PASS	0.567	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		31	99	31	99	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1995536	1995536	+	Silent	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:1995536G>A	ENST00000382722.5	-	8	1208	c.846C>T	c.(844-846)taC>taT	p.Y282Y	CACNA2D4_ENST00000588077.1_Silent_p.Y218Y|CACNA2D4_ENST00000585708.1_Silent_p.Y218Y|CACNA2D4_ENST00000586184.1_Silent_p.Y282Y|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Silent_p.Y282Y	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	282					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Y282Y(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGCTTGAATGTACCTGAAGG	0.498																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(844-846)TAC>TAT		voltage-gated calcium channel alpha(2)delta-4							79.0	74.0	76.0					12																	1995536		2025	4180	6205	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1995536G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.846C>T	12.37:g.1995536G>A						CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron	p.Y282Y	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	8	1077	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	282			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.846C>T	CCDS44785.1																																																																																				PASS	0.498	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			18	42	18	42	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2775903	2775903	+	Silent	SNP	G	G	A	rs376555924		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:2775903G>A	ENST00000347598.4	+	39	4722	c.4722G>A	c.(4720-4722)ccG>ccA	p.P1574P	CACNA1C_ENST00000402845.3_Silent_p.P1526P|CACNA1C_ENST00000399641.1_Silent_p.P1526P|CACNA1C_ENST00000344100.3_Silent_p.P1548P|CACNA1C_ENST00000399655.1_Silent_p.P1526P|CACNA1C_ENST00000399637.1_Silent_p.P1526P|CACNA1C_ENST00000399606.1_Silent_p.P1546P|CACNA1C_ENST00000399649.1_Silent_p.P1513P|CACNA1C_ENST00000399595.1_Silent_p.P1515P|CACNA1C_ENST00000399634.1_Silent_p.P1526P|CACNA1C_ENST00000399629.1_Silent_p.P1543P|CACNA1C_ENST00000335762.5_Silent_p.P1551P|CACNA1C_ENST00000399597.1_Silent_p.P1526P|CACNA1C_ENST00000399591.1_Silent_p.P1515P|CACNA1C_ENST00000399638.1_Silent_p.P1554P|CACNA1C_ENST00000399617.1_Silent_p.P1526P|CACNA1C_ENST00000406454.3_Silent_p.P1526P|CACNA1C_ENST00000327702.7_Silent_p.P1526P|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399603.1_Silent_p.P1526P|CACNA1C_ENST00000399621.1_Silent_p.P1526P|CACNA1C_ENST00000399644.1_Silent_p.P1526P|CACNA1C_ENST00000399601.1_Silent_p.P1526P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1574					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P1526P(1)|p.P1574P(1)|p.P1548P(1)|p.P1604P(1)|p.P1061P(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGATTCAGCCGCCACTAGGTT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18184	0.001		0.0	False		,,,				2504	0.0					uc009zdu.1																			5	Substitution - coding silent(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(4720-4722)CCG>CCA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	G	,,,,,,,,,,,,,,,,,,,,,,	0,3872		0,0,1936	31.0	34.0	33.0		4578,4722,4644,4578,4662,4638,4578,4578,4578,4629,4545,4545,4539,4578,4578,4578,4578,4569,4545,4578,4578,4545,4722	0.8	1.0	12		33	1,8297		0,1,4148	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,1,6084	AA,AG,GG		0.0121,0.0,0.0082	,,,,,,,,,,,,,,,,,,,,,,	1526/2139,1574/2187,1548/2180,1526/2174,1554/2167,1546/2159,1526/2158,1526/2158,1526/2158,1543/2156,1515/2147,1515/2147,1513/2145,1526/2139,1526/2139,1526/2139,1526/2139,1523/2136,1515/2128,1526/2139,1526/2174,1515/2199,1574/2222	2775903	1,12169	1936	4149	6085	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2775903G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4722G>A	12.37:g.2775903G>A						CACNA1C_uc009zdv.1_Silent_p.P1523P|CACNA1C_uc001qkb.2_Silent_p.P1526P|CACNA1C_uc001qkc.2_Silent_p.P1526P|CACNA1C_uc001qke.2_Silent_p.P1515P|CACNA1C_uc001qkf.2_Silent_p.P1515P|CACNA1C_uc001qjz.2_Silent_p.P1526P|CACNA1C_uc001qkd.2_Silent_p.P1526P|CACNA1C_uc001qkg.2_Silent_p.P1513P|CACNA1C_uc009zdw.1_Silent_p.P1548P|CACNA1C_uc001qkh.2_Silent_p.P1515P|CACNA1C_uc001qkl.2_Silent_p.P1574P|CACNA1C_uc001qkn.2_Silent_p.P1526P|CACNA1C_uc001qko.2_Silent_p.P1546P|CACNA1C_uc001qkp.2_Silent_p.P1526P|CACNA1C_uc001qkr.2_Silent_p.P1543P|CACNA1C_uc001qku.2_Silent_p.P1526P|CACNA1C_uc001qkq.2_Silent_p.P1554P|CACNA1C_uc001qks.2_Silent_p.P1526P|CACNA1C_uc001qkt.2_Silent_p.P1526P|CACNA1C_uc001qki.1_Silent_p.P1262P|CACNA1C_uc001qkj.1_Silent_p.P1262P|CACNA1C_uc001qkk.1_Silent_p.P1262P|CACNA1C_uc001qkm.1_Silent_p.P1251P|CACNA1C_uc010sea.1_Silent_p.P217P	p.P1574P	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	39	5035	+			1574			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.4722G>A	CCDS44788.1																																																																																				PASS	0.577	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		6	11	6	11	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154937	5154937	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:5154937C>A	ENST00000252321.3	+	1	1853	c.1624C>A	c.(1624-1626)Cag>Aag	p.Q542K		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	542					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.Q542K(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCAGGGCACTCAGAGCCAGGG	0.627																																						uc001qni.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1624-1626)CAG>AAG		potassium voltage-gated channel, shaker-related							40.0	42.0	42.0					12																	5154937		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154937C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1624C>A	12.37:g.5154937C>A	ENSP00000252321:p.Gln542Lys						p.Q542K	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1853	+			542					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1624C>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	6.035	0.374897	0.11409	.	.	ENSG00000130037	ENST00000252321	D	0.97430	-4.38	5.1	4.17	0.49024	.	0.763445	0.11014	U	0.609082	D	0.94850	0.8336	M	0.61703	1.905	0.09310	N	1	B	0.25850	0.136	B	0.24006	0.05	D	0.84659	0.0705	10	0.06099	T	0.92	.	14.1719	0.65514	0.1498:0.8502:0.0:0.0	.	542	P22460	KCNA5_HUMAN	K	542	ENSP00000252321:Q542K	ENSP00000252321:Q542K	Q	+	1	0	KCNA5	5025198	0.011000	0.17503	0.843000	0.33291	0.116000	0.19942	1.618000	0.36954	2.641000	0.89580	0.561000	0.74099	CAG		PASS	0.627	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		19	56	19	56	---	---	---	---
LPCAT3	10162	broad.mit.edu	37	12	7084422	7084422	+	IGR	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:7084422C>T	ENST00000261407.4	-	0	2268				LPCAT3_ENST00000535021.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|EMG1_ENST00000261406.6_Missense_Mutation_p.P167L	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						GATCACTTTCCAGTTGGATGT	0.433																																						uc001qsh.3																			0					0						c.(502-504)CCA>CTA		ribosome biogenesis protein NEP1							93.0	88.0	90.0					12																	7084422		1936	4146	6082	SO:0001628	intergenic_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7084422C>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970		12.37:g.7084422C>T						EMG1_uc009zfo.2_Intron|EMG1_uc010sfv.1_RNA	p.P168L	NM_006331	NP_006322	Q92979	NEP1_HUMAN			7	646	+			168					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.503C>T	CCDS8572.1																																																																																				PASS	0.433	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		15	59	15	59	---	---	---	---
C1R	715	broad.mit.edu	37	12	7241892	7241892	+	Silent	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:7241892T>A	ENST00000542285.1	-	5	911	c.762A>T	c.(760-762)ctA>ctT	p.L254L	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	255	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L269L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTGTACCTGTAGCTGGTCAT	0.587																																						uc010sfy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(763-765)CTA>CTT		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						86.0	85.0	85.0					12																	7241892		2046	4180	6226	SO:0001819	synonymous_variant	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7241892T>A	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.762A>T	12.37:g.7241892T>A						C1R_uc010sfz.1_Silent_p.L269L|C1R_uc010sga.1_Silent_p.L221L	p.L255L	NM_001733	NP_001724	P00736	C1R_HUMAN			5	824	-			255			CUB 2.		A6NJQ8|Q68D77|Q8J012	Silent	SNP	ENST00000542285.1	37	c.765A>T																																																																																					PASS	0.587	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		8	46	8	46	---	---	---	---
GDF3	9573	broad.mit.edu	37	12	7843100	7843100	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:7843100C>A	ENST00000329913.3	-	2	516	c.469G>T	c.(469-471)Ggc>Tgc	p.G157C		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	157					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.G157C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTGGTCTGGCCCCACACATGA	0.547																																						uc001qte.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(469-471)GGC>TGC		growth differentiation factor 3 precursor							57.0	60.0	59.0					12																	7843100		2203	4300	6503	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7843100C>A	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.469G>T	12.37:g.7843100C>A	ENSP00000331745:p.Gly157Cys						p.G157C	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			2	505	-			157					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.469G>T	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058266	0.55325	.	.	ENSG00000184344	ENST00000329913	D	0.82344	-1.6	4.21	4.21	0.49690	Transforming growth factor-beta, N-terminal (1);	6.134060	0.01141	U	0.006201	D	0.92312	0.7561	M	0.77103	2.36	0.49299	D	0.999778	D	0.89917	1.0	D	0.85130	0.997	T	0.81263	-0.1012	10	0.87932	D	0	.	12.8059	0.57614	0.0:1.0:0.0:0.0	.	157	Q9NR23	GDF3_HUMAN	C	157	ENSP00000331745:G157C	ENSP00000331745:G157C	G	-	1	0	GDF3	7734367	0.011000	0.17503	0.082000	0.20525	0.279000	0.26890	1.788000	0.38714	2.285000	0.76669	0.561000	0.74099	GGC		PASS	0.547	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			62	113	62	113	---	---	---	---
SLC2A14	144195	broad.mit.edu	37	12	7980133	7980133	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:7980133G>T	ENST00000543909.1	-	12	1650	c.891C>A	c.(889-891)tcC>tcA	p.S297S	SLC2A14_ENST00000542546.1_Silent_p.S188S|SLC2A14_ENST00000539924.1_Silent_p.S312S|SLC2A14_ENST00000340749.5_Silent_p.S274S|SLC2A14_ENST00000431042.2_Silent_p.S274S|SLC2A14_ENST00000396589.2_Silent_p.S297S|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Silent_p.S188S			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	297					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.S297S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GGAGCACAATGGAAATGATGA	0.463																																						uc001qtk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(889-891)TCC>TCA		glucose transporter 14							52.0	57.0	55.0					12																	7980133		2203	4298	6501	SO:0001819	synonymous_variant	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7980133G>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.891C>A	12.37:g.7980133G>T						SLC2A14_uc001qtl.2_Silent_p.S274S|SLC2A14_uc001qtm.2_Silent_p.S274S|SLC2A14_uc010sgg.1_Silent_p.S188S|SLC2A14_uc001qtn.2_Silent_p.S297S|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.S312S	p.S297S	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	12	1684	-			297			Helical; Name=7; (Potential).		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	c.891C>A	CCDS8585.1																																																																																				PASS	0.463	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		14	53	14	53	---	---	---	---
A2M	2	broad.mit.edu	37	12	9256835	9256835	+	Splice_Site	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:9256835C>T	ENST00000318602.7	-	11	1573	c.1266G>A	c.(1264-1266)agG>agA	p.R422R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	422					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.R422R(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CCAAACTTACCCTAACAGTAA	0.408																																						uc001qvk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(1264-1266)AGG>AGA		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						107.0	104.0	105.0					12																	9256835		1908	4126	6034	SO:0001630	splice_region_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9256835C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1266+1G>A	12.37:g.9256835C>T						A2M_uc009zgk.1_Silent_p.R272R	p.R422R	NM_000014	NP_000005	P01023	A2MG_HUMAN			11	1379	-			422					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.1266G>A	CCDS44827.1																																																																																				PASS	0.408	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	Silent	13	49	13	49	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21350092	21350092	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:21350092C>A	ENST00000256958.2	+	8	1036	c.940C>A	c.(940-942)Caa>Aaa	p.Q314K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	314					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.Q314K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTTGACCAATCAAGGAAAAAA	0.318																																						uc001req.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(940-942)CAA>AAA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						63.0	64.0	64.0					12																	21350092		2203	4299	6502	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21350092C>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.940C>A	12.37:g.21350092C>A	ENSP00000256958:p.Gln314Lys						p.Q314K	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			8	1044	+			314			Cytoplasmic (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.940C>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093316	0.01858	.	.	ENSG00000134538	ENST00000256958	T	0.38401	1.14	3.08	-0.0719	0.13742	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.592480	0.00792	N	0.001351	T	0.25044	0.0608	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.04930	-1.0917	10	0.11182	T	0.66	.	2.4734	0.04570	0.1921:0.5074:0.187:0.1135	.	314	Q9Y6L6	SO1B1_HUMAN	K	314	ENSP00000256958:Q314K	ENSP00000256958:Q314K	Q	+	1	0	SLCO1B1	21241359	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.427000	0.06999	-0.152000	0.11156	0.313000	0.20887	CAA		PASS	0.318	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		22	114	22	114	---	---	---	---
SLCO1A2	6579	broad.mit.edu	37	12	21422583	21422583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:21422583C>A	ENST00000307378.6	-	16	2632	c.1912G>T	c.(1912-1914)Gag>Tag	p.E638*	SLCO1A2_ENST00000458504.1_Nonsense_Mutation_p.E506*|SLCO1A2_ENST00000452078.1_Nonsense_Mutation_p.E638*|SLCO1A2_ENST00000537524.1_Nonsense_Mutation_p.E506*	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	638					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.E638*(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TCTATAAGCTCTGTTCCTGAA	0.383																																						uc001rer.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1912-1914)GAG>TAG		organic anion transporting polypeptide A							137.0	136.0	136.0					12																	21422583		2203	4300	6503	SO:0001587	stop_gained	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21422583C>A		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1912G>T	12.37:g.21422583C>A	ENSP00000305974:p.Glu638*					SLCO1A2_uc001res.2_Nonsense_Mutation_p.E638*|SLCO1A2_uc010siq.1_Nonsense_Mutation_p.E506*|SLCO1A2_uc010sio.1_Nonsense_Mutation_p.E506*|SLCO1A2_uc010sip.1_Nonsense_Mutation_p.E506*	p.E638*	NM_021094	NP_066580	P46721	SO1A2_HUMAN			14	2163	-			638			Cytoplasmic (Potential).		Q9UGP7|Q9UL38	Nonsense_Mutation	SNP	ENST00000307378.6	37	c.1912G>T	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010998	0.93346	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524	.	.	.	4.46	0.4	0.16331	.	2.028680	0.01728	N	0.028711	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	6.7982	0.23736	0.0:0.5799:0.0:0.4201	.	.	.	.	X	638;638;506;506	.	ENSP00000305974:E638X	E	-	1	0	SLCO1A2	21313850	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.923000	0.04000	-0.032000	0.13758	0.563000	0.77884	GAG		PASS	0.383	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		82	162	82	162	---	---	---	---
LDHB	3945	broad.mit.edu	37	12	21794951	21794951	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:21794951T>A	ENST00000396076.1	-	5	862	c.530A>T	c.(529-531)gAa>gTa	p.E177V	LDHB_ENST00000350669.1_Missense_Mutation_p.E177V	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	177					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)	p.E177V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						GCCAAGTTTTTCAGCCATAAG	0.418																																						uc001rfc.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(529-531)GAA>GTA		L-lactate dehydrogenase B	NADH(DB00157)						96.0	90.0	92.0					12																	21794951		2203	4299	6502	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21794951T>A		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.530A>T	12.37:g.21794951T>A	ENSP00000379386:p.Glu177Val					LDHB_uc001rfd.2_Missense_Mutation_p.E177V|LDHB_uc001rfe.2_Missense_Mutation_p.E177V	p.E177V	NM_002300	NP_002291	P07195	LDHB_HUMAN			4	548	-			177						Missense_Mutation	SNP	ENST00000396076.1	37	c.530A>T	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.975129	0.92919	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075	T;T;T	0.71222	-0.55;-0.55;-0.55	5.67	4.51	0.55191	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.091270	0.85682	D	0.000000	D	0.88020	0.6325	H	0.97131	3.945	0.80722	D	1	P	0.42556	0.783	P	0.61132	0.884	D	0.90728	0.4640	10	0.87932	D	0	.	11.9463	0.52930	0.0:0.0692:0.0:0.9308	.	177	P07195	LDHB_HUMAN	V	177	ENSP00000379386:E177V;ENSP00000229319:E177V;ENSP00000379385:E177V	ENSP00000229319:E177V	E	-	2	0	LDHB	21686218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.023000	0.88764	2.164000	0.68074	0.524000	0.50904	GAA		PASS	0.418	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		41	140	41	140	---	---	---	---
GPD1	2819	broad.mit.edu	37	12	50501542	50501542	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:50501542C>T	ENST00000301149.3	+	6	1037	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	GPD1_ENST00000547190.1_Intron|GPD1_ENST00000548814.1_Missense_Mutation_p.R246W	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	269	Substrate binding.				cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)	p.R269W(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CTATGGAGGGCGGAACCGGAA	0.602																																					NSCLC(141;1402 1905 9497 13391 44868)	uc001rvz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(805-807)CGG>TGG		glycerol-3-phosphate dehydrogenase 1 (soluble)	NADH(DB00157)						110.0	102.0	105.0					12																	50501542		2203	4300	6503	SO:0001583	missense	2819				glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	g.chr12:50501542C>T		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.805C>T	12.37:g.50501542C>T	ENSP00000301149:p.Arg269Trp					GPD1_uc001rwa.2_Missense_Mutation_p.R246W	p.R269W	NM_005276	NP_005267	P21695	GPDA_HUMAN			6	838	+			269			Substrate binding.	NAD.	F8W1L5|Q8N1B0	Missense_Mutation	SNP	ENST00000301149.3	37	c.805C>T	CCDS8799.1	.	.	.	.	.	.	.	.	.	.	c	15.89	2.967745	0.53507	.	.	ENSG00000167588	ENST00000301149;ENST00000548814;ENST00000544364	D;D	0.86030	-2.06;-2.06	4.76	1.84	0.25277	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal (1);	0.120582	0.56097	D	0.000029	D	0.95831	0.8643	H	0.99825	4.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95730	0.8774	10	0.87932	D	0	-0.1088	13.4104	0.60940	0.5471:0.4529:0.0:0.0	.	246;269	F8W1L5;P21695	.;GPDA_HUMAN	W	269;246;300	ENSP00000301149:R269W;ENSP00000446768:R246W	ENSP00000301149:R269W	R	+	1	2	GPD1	48787809	0.992000	0.36948	0.994000	0.49952	0.249000	0.25844	1.621000	0.36986	0.163000	0.19507	-0.226000	0.12346	CGG		PASS	0.602	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			69	202	69	202	---	---	---	---
KRT78	196374	broad.mit.edu	37	12	53233571	53233571	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:53233571C>T	ENST00000304620.4	-	7	1308	c.1245G>A	c.(1243-1245)agG>agA	p.R415R	KRT78_ENST00000359499.4_Silent_p.R305R	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	415	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R415R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCTCCAGCAGCCTGCGGTAAG	0.602																																						uc001sbc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1243-1245)AGG>AGA		keratin 5b							68.0	60.0	63.0					12																	53233571		2203	4300	6503	SO:0001819	synonymous_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53233571C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1245G>A	12.37:g.53233571C>T							p.R415R	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			7	1309	-			415			Coil 2.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	c.1245G>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	9.478	1.097445	0.20552	.	.	ENSG00000170423	ENST00000547920	.	.	.	3.89	2.0	0.26442	.	.	.	.	.	T	0.55226	0.1907	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49808	-0.8900	4	.	.	.	.	7.3295	0.26573	0.0:0.7028:0.0:0.2972	.	.	.	.	T	10	.	.	A	-	1	0	KRT78	51519838	0.981000	0.34729	1.000000	0.80357	0.973000	0.67179	0.180000	0.16860	0.949000	0.37715	0.462000	0.41574	GCT		PASS	0.602	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		32	87	32	87	---	---	---	---
IGFBP6	3489	broad.mit.edu	37	12	53494917	53494917	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:53494917C>G	ENST00000301464.3	+	3	846	c.573C>G	c.(571-573)gaC>gaG	p.D191E	IGFBP6_ENST00000549628.1_3'UTR|SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000548547.1_Missense_Mutation_p.D189E	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	191	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)		p.D191E(1)		large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						CCAATTGTGACCATCGAGGCT	0.582																																					Esophageal Squamous(83;1656 1718 30141 34380)	uc001sbu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(571-573)GAC>GAG		insulin-like growth factor binding protein 6							123.0	112.0	115.0					12																	53494917		2203	4300	6503	SO:0001583	missense	3489				negative regulation of cell proliferation|regulation of cell growth|signal transduction			g.chr12:53494917C>G		CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.573C>G	12.37:g.53494917C>G	ENSP00000301464:p.Asp191Glu					SOAT2_uc001sbv.2_5'Flank|SOAT2_uc009zms.2_5'Flank	p.D191E	NM_002178	NP_002169	P24592	IBP6_HUMAN			3	639	+			191			Thyroglobulin type-1.		Q14492	Missense_Mutation	SNP	ENST00000301464.3	37	c.573C>G	CCDS8846.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381150	0.61845	.	.	ENSG00000167779	ENST00000548547;ENST00000301464	T;T	0.68479	-0.33;-0.33	4.43	2.63	0.31362	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.62016	1.91	0.39862	D	0.973392	D	0.71674	0.998	D	0.65573	0.936	T	0.74598	-0.3612	10	0.87932	D	0	-6.0191	7.0508	0.25071	0.0:0.7981:0.0:0.2019	.	191	P24592	IBP6_HUMAN	E	189;191	ENSP00000448953:D189E;ENSP00000301464:D191E	ENSP00000301464:D191E	D	+	3	2	IGFBP6	51781184	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	2.949000	0.49074	0.826000	0.34661	-0.126000	0.14955	GAC		PASS	0.582	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			37	126	37	126	---	---	---	---
SP7	121340	broad.mit.edu	37	12	53722390	53722390	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:53722390T>C	ENST00000536324.2	-	3	1119	c.836A>G	c.(835-837)gAg>gGg	p.E279G	SP7_ENST00000303846.3_Missense_Mutation_p.E279G|SP7_ENST00000537210.2_Missense_Mutation_p.E261G	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	279					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E279G(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TCCCAGCCGCTCTAGCTCCTG	0.657																																						uc001sct.2																			1	Substitution - Missense(1)		lung(1)		0						c.(835-837)GAG>GGG		osterix							21.0	25.0	24.0					12																	53722390		2112	4246	6358	SO:0001583	missense	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722390T>C	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.836A>G	12.37:g.53722390T>C	ENSP00000443827:p.Glu279Gly					SP7_uc001scu.2_Missense_Mutation_p.E261G|SP7_uc001scv.2_Missense_Mutation_p.E279G	p.E279G	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN			2	943	-			279					B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	c.836A>G	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.214480	0.39102	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.74947	2.97;2.97;2.98;-0.89	3.68	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.70894	0.3276	M	0.63208	1.945	0.58432	D	0.999991	B	0.28998	0.23	B	0.29716	0.106	T	0.74127	-0.3765	10	0.87932	D	0	.	12.0255	0.53368	0.0:0.0:0.0:1.0	.	279	Q8TDD2	SP7_HUMAN	G	279;279;261;261	ENSP00000443827:E279G;ENSP00000302812:E279G;ENSP00000441367:E261G;ENSP00000449355:E261G	ENSP00000302812:E279G	E	-	2	0	SP7	52008657	1.000000	0.71417	0.974000	0.42286	0.585000	0.36419	6.038000	0.70964	1.637000	0.50538	0.260000	0.18958	GAG		PASS	0.657	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			4	31	4	31	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54917320	54917320	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:54917320C>A	ENST00000293373.6	+	19	2100	c.2021C>A	c.(2020-2022)aCc>aAc	p.T674N	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T624N	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	674					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.T674N(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGCATTGTCACCAAGTGAGGA	0.542																																						uc001sgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2020-2022)ACC>AAC		NCK-associated protein 1-like							66.0	67.0	67.0					12																	54917320		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54917320C>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2021C>A	12.37:g.54917320C>A	ENSP00000293373:p.Thr674Asn					NCKAP1L_uc010sox.1_Missense_Mutation_p.T216N|NCKAP1L_uc010soy.1_Missense_Mutation_p.T624N	p.T674N	NM_005337	NP_005328	P55160	NCKPL_HUMAN			19	2100	+			674					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2021C>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791416	0.70452	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35605	1.3;1.3	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.68006	-0.5523	10	0.72032	D	0.01	-19.7264	16.1355	0.81481	0.0:1.0:0.0:0.0	.	674	P55160	NCKPL_HUMAN	N	674;624	ENSP00000293373:T674N;ENSP00000445596:T624N	ENSP00000293373:T674N	T	+	2	0	NCKAP1L	53203587	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.757000	0.68766	2.474000	0.83562	0.655000	0.94253	ACC		PASS	0.542	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		33	111	33	111	---	---	---	---
OR6C70	390327	broad.mit.edu	37	12	55863141	55863141	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:55863141G>A	ENST00000327335.4	-	1	781	c.782C>T	c.(781-783)tCa>tTa	p.S261L	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S261L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TTCATTCGCTGATGGCTTTAT	0.393																																						uc010spn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(781-783)TCA>TTA		olfactory receptor, family 6, subfamily C,							101.0	93.0	96.0					12																	55863141		2203	4300	6503	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863141G>A		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.782C>T	12.37:g.55863141G>A	ENSP00000329153:p.Ser261Leu						p.S261L	NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN			1	782	-			261			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000327335.4	37	c.782C>T	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061134	0.36373	.	.	ENSG00000184954	ENST00000327335	T	0.00174	8.62	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.161611	0.29073	N	0.013225	T	0.00524	0.0017	M	0.79343	2.45	0.23101	N	0.998296	D	0.59357	0.985	D	0.63113	0.911	T	0.49643	-0.8918	10	0.87932	D	0	.	16.5098	0.84281	0.0:0.0:1.0:0.0	.	261	A6NIJ9	O6C70_HUMAN	L	261	ENSP00000329153:S261L	ENSP00000329153:S261L	S	-	2	0	OR6C70	54149408	0.000000	0.05858	0.172000	0.22920	0.014000	0.08584	-0.942000	0.03921	2.292000	0.77174	0.650000	0.86243	TCA		PASS	0.393	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			51	170	51	170	---	---	---	---
OS9	10956	broad.mit.edu	37	12	58090110	58090110	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:58090110G>T	ENST00000315970.7	+	5	574	c.533G>T	c.(532-534)gGg>gTg	p.G178V	OS9_ENST00000413095.2_Intron|OS9_ENST00000439210.2_Missense_Mutation_p.G119V|OS9_ENST00000389142.5_Missense_Mutation_p.G178V|OS9_ENST00000257966.8_Missense_Mutation_p.G178V|OS9_ENST00000551035.1_Intron|OS9_ENST00000389146.6_Missense_Mutation_p.G178V|OS9_ENST00000435406.2_Intron|OS9_ENST00000552285.1_Missense_Mutation_p.G178V|RP11-571M6.7_ENST00000549477.1_RNA	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	178	PRKCSH.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.G178V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TATGGCAATGGGTCCAAGTGC	0.542																																						uc001spj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(532-534)GGG>GTG		osteosarcoma amplified 9, endoplasmic reticulum							88.0	81.0	84.0					12																	58090110		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58090110G>T	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.533G>T	12.37:g.58090110G>T	ENSP00000318165:p.Gly178Val					OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.G178V|OS9_uc001spl.2_Missense_Mutation_p.G178V|OS9_uc001spm.2_Missense_Mutation_p.G178V|OS9_uc001spn.2_Missense_Mutation_p.G178V|OS9_uc010sry.1_Intron|OS9_uc010srz.1_Missense_Mutation_p.G119V	p.G178V	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		5	592	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		178			PRKCSH.		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.533G>T	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193573	0.94960	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000257966;ENST00000550372;ENST00000389142	D;D;D;D;D;T;D	0.93659	-3.22;-3.26;-3.1;-3.15;-3.17;3.23;-3.15	5.53	5.53	0.82687	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.000000	0.85682	D	0.000000	D	0.97579	0.9207	M	0.92507	3.315	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	1.0;1.0;1.0;1.0;1.0;1.0	D	0.98356	1.0546	10	0.87932	D	0	.	18.2128	0.89876	0.0:0.0:1.0:0.0	.	119;178;178;178;178;178	E7EW91;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;OS9_HUMAN	V	178;178;119;178;178;118;178	ENSP00000450010:G178V;ENSP00000318165:G178V;ENSP00000407360:G119V;ENSP00000373798:G178V;ENSP00000257966:G178V;ENSP00000447719:G118V;ENSP00000373794:G178V	ENSP00000257966:G178V	G	+	2	0	OS9	56376377	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	8.733000	0.91539	2.608000	0.88229	0.591000	0.81541	GGG		PASS	0.542	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		46	124	46	124	---	---	---	---
IL26	55801	broad.mit.edu	37	12	68619426	68619426	+	Silent	SNP	T	T	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:68619426T>G	ENST00000229134.4	-	1	175	c.111A>C	c.(109-111)acA>acC	p.T37T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	37					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.T37T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CTTGGGACAATGTTCCCCTTG	0.443																																						uc001stx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)ACA>ACC		interleukin 26 precursor							287.0	251.0	263.0					12																	68619426		2203	4300	6503	SO:0001819	synonymous_variant	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619426T>G	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.111A>C	12.37:g.68619426T>G							p.T37T	NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	1	146	-			37						Silent	SNP	ENST00000229134.4	37	c.111A>C	CCDS8981.1																																																																																				PASS	0.443	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		100	338	100	338	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71314168	71314168	+	Start_Codon_SNP	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:71314168C>A	ENST00000283228.2	-	1	455	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	1					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.M1I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTGCTCTCCGCATAGTGTTTG	0.552																																						uc001swi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1-3)ATG>ATT		protein tyrosine phosphatase, receptor type, R							54.0	44.0	47.0					12																	71314168		2203	4300	6503	SO:0001582	initiator_codon_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71314168C>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.3G>T	12.37:g.71314168C>A	ENSP00000283228:p.Met1Ile						p.M1I	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	1	419	-			1					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.3G>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823426	0.50739	.	.	ENSG00000153233	ENST00000283228	T	0.03580	3.88	5.23	5.23	0.72850	.	0.000000	0.49916	U	0.000126	T	0.14830	0.0358	.	.	.	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.00018	-1.2368	9	0.87932	D	0	-16.4979	14.2969	0.66318	0.0:1.0:0.0:0.0	.	1	Q15256	PTPRR_HUMAN	I	1	ENSP00000283228:M1I	ENSP00000283228:M1I	M	-	3	0	PTPRR	69600435	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.470000	0.53100	2.453000	0.82957	0.655000	0.94253	ATG		PASS	0.552	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	Missense_Mutation	11	39	11	39	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85492717	85492717	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:85492717G>T	ENST00000393217.2	+	13	3215	c.3154G>T	c.(3154-3156)Gca>Tca	p.A1052S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1052								p.A1052S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AACTGTGGAAGCATTTTCTTC	0.303																																						uc001tac.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3154-3156)GCA>TCA		leucine-rich repeats and IQ motif containing 1							93.0	95.0	94.0					12																	85492717		2202	4290	6492	SO:0001583	missense	84125							g.chr12:85492717G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3154G>T	12.37:g.85492717G>T	ENSP00000376910:p.Ala1052Ser					LRRIQ1_uc001tab.1_Missense_Mutation_p.A1052S	p.A1052S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	13	3265	+			1052			LRR 8.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.3154G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	6.376	0.437517	0.12104	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.23552	1.9	5.4	3.18	0.36537	.	0.826183	0.10449	N	0.673267	T	0.11665	0.0284	N	0.11756	0.17	0.19300	N	0.999977	B;B	0.26318	0.146;0.146	B;B	0.22152	0.038;0.038	T	0.30794	-0.9966	10	0.07644	T	0.81	.	6.6749	0.23087	0.4413:0.0:0.5587:0.0	.	1052;1027	Q96JM4;C9JI57	LRIQ1_HUMAN;.	S	1052;1027;1052	ENSP00000376910:A1052S	ENSP00000256007:A1052S	A	+	1	0	LRRIQ1	84016848	0.001000	0.12720	0.818000	0.32626	0.994000	0.84299	0.756000	0.26419	1.158000	0.42547	0.585000	0.79938	GCA		PASS	0.303	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		27	101	27	101	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100431478	100431478	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:100431478A>G	ENST00000279907.7	-	21	4543	c.4331T>C	c.(4330-4332)cTt>cCt	p.L1444P	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.L1094P	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1444								p.L1444P(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AGCCTCTGCAAGAGCCATTTT	0.383																																						uc001tgq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4330-4332)CTT>CCT		UHRF1 (ICBP90) binding protein 1-like isoform a							89.0	87.0	88.0					12																	100431478		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100431478A>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4331T>C	12.37:g.100431478A>G	ENSP00000279907:p.Leu1444Pro					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.L1094P	p.L1444P	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			21	4560	-			1444			Potential.		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.4331T>C	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767440	0.69878	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.22945	1.98;1.93	5.65	5.65	0.86999	.	0.140632	0.49305	D	0.000157	T	0.47544	0.1451	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.46275	-0.9203	10	0.87932	D	0	-11.8388	15.5528	0.76167	1.0:0.0:0.0:0.0	.	1444	A0JNW5	UH1BL_HUMAN	P	1444;1094	ENSP00000279907:L1444P;ENSP00000444824:L1094P	ENSP00000279907:L1444P	L	-	2	0	UHRF1BP1L	98955609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.778000	0.85637	2.154000	0.67381	0.528000	0.53228	CTT		PASS	0.383	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		29	151	29	151	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101491478	101491478	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:101491478C>A	ENST00000392977.3	+	20	2110	c.1900C>A	c.(1900-1902)Cta>Ata	p.L634I	ANO4_ENST00000392979.3_Missense_Mutation_p.L599I|ANO4_ENST00000299222.9_Missense_Mutation_p.L154I|ANO4_ENST00000550015.1_Missense_Mutation_p.L154I			Q32M45	ANO4_HUMAN	anoctamin 4	634					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L599I(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAGGTGGAGACTAGAAGAGGT	0.438										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1900-1902)CTA>ATA		anoctamin 4							153.0	171.0	165.0					12																	101491478		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101491478C>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1900C>A	12.37:g.101491478C>A	ENSP00000376703:p.Leu634Ile	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.L599I|ANO4_uc001thx.2_Missense_Mutation_p.L634I|ANO4_uc001thy.2_Missense_Mutation_p.L154I	p.L634I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			20	2472	+			634			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1900C>A		.	.	.	.	.	.	.	.	.	.	C	18.22	3.574623	0.65878	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.57	3.72	0.42706	.	0.000000	0.64402	D	0.000010	T	0.70107	0.3186	M	0.70595	2.14	0.53005	D	0.999963	P;P;P	0.44776	0.843;0.831;0.746	P;P;P	0.53722	0.487;0.733;0.487	T	0.68584	-0.5370	10	0.35671	T	0.21	.	12.4518	0.55681	0.0:0.8765:0.0:0.1235	.	154;634;599	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	I	599;154;634;154	ENSP00000376705:L599I;ENSP00000299222:L154I;ENSP00000376703:L634I;ENSP00000450192:L154I	ENSP00000299222:L154I	L	+	1	2	ANO4	100015609	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.628000	0.54259	2.623000	0.88846	0.561000	0.74099	CTA		PASS	0.438	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		24	130	24	130	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104476524	104476524	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:104476524C>A	ENST00000229330.4	+	7	1012	c.908C>A	c.(907-909)tCt>tAt	p.S303Y		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	303					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.S303Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GTATCAGATTCTCAGGAAGAT	0.363																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(907-909)TCT>TAT		host cell factor C2							63.0	65.0	64.0					12																	104476524		2203	4300	6503	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104476524C>A	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.908C>A	12.37:g.104476524C>A	ENSP00000229330:p.Ser303Tyr					HCFC2_uc009zul.2_RNA	p.S303Y	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			7	1011	+			303			Kelch 4.		B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.908C>A	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.888019	0.72524	.	.	ENSG00000111727	ENST00000229330	T	0.01933	4.55	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.211888	0.40222	N	0.001142	T	0.03695	0.0105	L	0.50333	1.59	0.45464	D	0.99843	P	0.50943	0.94	P	0.44732	0.459	T	0.62062	-0.6933	10	0.17832	T	0.49	-18.5242	13.7164	0.62700	0.0:0.7186:0.2814:0.0	.	303	Q9Y5Z7	HCFC2_HUMAN	Y	303	ENSP00000229330:S303Y	ENSP00000229330:S303Y	S	+	2	0	HCFC2	103000654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.477000	0.53151	2.497000	0.84241	0.650000	0.86243	TCT		PASS	0.363	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		6	128	6	128	---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107090222	107090222	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:107090222C>A	ENST00000392842.1	+	8	1245	c.831C>A	c.(829-831)gaC>gaA	p.D277E	RFX4_ENST00000357881.4_Missense_Mutation_p.D286E|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.D183E	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	277					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D286E(1)|p.D183E(1)|p.D277E(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CATTACCTGACAGGTGGGCAT	0.527																																						uc001tlr.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)	1						c.(829-831)GAC>GAA		regulatory factor X4 isoform c							113.0	94.0	100.0					12																	107090222		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107090222C>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.831C>A	12.37:g.107090222C>A	ENSP00000376585:p.Asp277Glu					RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Missense_Mutation_p.D286E|RFX4_uc001tlt.2_Missense_Mutation_p.D286E|RFX4_uc001tlv.2_Missense_Mutation_p.D183E	p.D277E	NM_213594	NP_998759	Q33E94	RFX4_HUMAN			8	897	+			277					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.831C>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	8.603	0.887317	0.17540	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.85339	-0.05;-0.05;-1.97;0.98	5.46	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	N	0.05534	-0.03	0.58432	D	0.999997	P;D;D;D	0.61697	0.884;0.99;0.99;0.984	P;D;D;D	0.73380	0.509;0.98;0.98;0.935	T	0.74751	-0.3559	10	0.02654	T	1	-26.6149	11.0088	0.47651	0.0:0.8577:0.0:0.1423	.	183;286;286;277	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	E	277;286;286;222;183	ENSP00000376585:D277E;ENSP00000350552:D286E;ENSP00000448694:D222E;ENSP00000229387:D183E	ENSP00000229387:D183E	D	+	3	2	RFX4	105614352	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.361000	0.44160	2.551000	0.86045	0.655000	0.94253	GAC		PASS	0.527	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		44	126	44	126	---	---	---	---
MYL2	4633	broad.mit.edu	37	12	111358331	111358331	+	Splice_Site	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:111358331C>A	ENST00000228841.8	-	1	50	c.3G>T	c.(1-3)atG>atT	p.M1I	MYL2_ENST00000548438.1_Splice_Site_p.M1I	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	1					cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)	p.M1I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TTGTACTCACCATGGTGGAAA	0.597																																					GBM(14;268 426 18829 21617 25540)	uc001try.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1-3)ATG>ATT		slow cardiac myosin regulatory light chain 2							98.0	92.0	94.0					12																	111358331		2203	4300	6503	SO:0001630	splice_region_variant	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111358331C>A		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.3+1G>T	12.37:g.111358331C>A						MYL2_uc001trx.3_5'Flank	p.M1I	NM_000432	NP_000423	P10916	MLRV_HUMAN			1	74	-			1					Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	c.3G>T	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650932	0.67472	.	.	ENSG00000111245	ENST00000228841;ENST00000548438	T;T	0.78364	-0.8;-1.17	5.21	5.21	0.72293	.	0.447093	0.25305	N	0.031632	T	0.66925	0.2839	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.17722	0.019	T	0.61063	-0.7138	8	.	.	.	.	14.2667	0.66123	0.0:1.0:0.0:0.0	.	1	P10916	MLRV_HUMAN	I	1	ENSP00000228841:M1I;ENSP00000447154:M1I	.	M	-	3	0	MYL2	109842714	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.585000	0.60977	2.428000	0.82296	0.561000	0.74099	ATG		PASS	0.597	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432	Missense_Mutation	35	157	35	157	---	---	---	---
RPLP0	6175	broad.mit.edu	37	12	120637225	120637226	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:120637225_120637226TC>AA	ENST00000551150.1	-	2	432_433	c.117_118GA>TT	c.(115-120)caGAtg>caTTtg	p.39_40QM>HL	RPLP0_ENST00000228306.4_Missense_Mutation_p.39_40QM>HL|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000392514.4_Missense_Mutation_p.39_40QM>HL|RPLP0_ENST00000546989.1_Missense_Mutation_p.39_40QM>HL|PXN-AS1_ENST00000542314.1_RNA|RPLP0_ENST00000552292.1_5'Flank|PXN-AS1_ENST00000539446.1_RNA|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000313104.5_Missense_Mutation_p.39_40QM>HL			P05388	RLA0_HUMAN	ribosomal protein, large, P0	39					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.Q39H(1)|p.M40L(1)|p.Q39_M40>HL(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTGCTGCATCTGCTTGGAGC	0.515																																						uc001txp.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(1)	1						c.(118-120)ATG>TTG|c.(115-117)CAG>CAT		ribosomal protein P0																																				SO:0001583	missense	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120637225T>A|g.chr12:120637226C>A	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.117_118delinsAA	12.37:g.120637225_120637226delinsAA	ENSP00000449328:p.Q39_M40delinsHL					RPLP0_uc001txq.2_Missense_Mutation_p.M40L|RPLP0_uc001txr.2_Missense_Mutation_p.M40L|uc001txs.1_5'Flank|RPLP0_uc001txq.2_Missense_Mutation_p.Q39H|RPLP0_uc001txr.2_Missense_Mutation_p.Q39H|uc001txs.1_5'Flank	p.M40L|p.Q39H	NM_053275	NP_444505	P05388	RLA0_HUMAN			3	355|354	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		40|39					Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	c.118A>T|c.117G>T	CCDS9193.1																																																																																				PASS	0.515	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		35|34	115|116	34	115	---	---	---	---
ANAPC5	51433	broad.mit.edu	37	12	121766123	121766123	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:121766123G>A	ENST00000261819.3	-	10	1421	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	ANAPC5_ENST00000344395.4_Missense_Mutation_p.R322C|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R322C|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.R421C|ANAPC5_ENST00000535482.1_Missense_Mutation_p.R100C	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	434					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.R434C(1)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCTACCTGCGGCCATACAGC	0.527																																						uc001uag.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|breast(2)|kidney(1)	6						c.(1300-1302)CGC>TGC		anaphase-promoting complex subunit 5 isoform a							87.0	72.0	77.0					12																	121766123		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121766123G>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1300C>T	12.37:g.121766123G>A	ENSP00000261819:p.Arg434Cys					ANAPC5_uc010szu.1_Missense_Mutation_p.R100C|ANAPC5_uc001uae.2_5'UTR|ANAPC5_uc010szv.1_Missense_Mutation_p.R36C|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.R322C|ANAPC5_uc001uai.1_Missense_Mutation_p.R36C	p.R434C	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN			10	1422	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		434					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1300C>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625958	0.87560	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.95	5.95	0.96441	.	0.098274	0.64402	D	0.000001	T	0.49847	0.1581	N	0.08118	0	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.994;0.998	P;P;P;P	0.54815	0.648;0.648;0.683;0.761	T	0.59616	-0.7421	9	0.87932	D	0	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	100;36;322;434	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	C	322;421;434;100;36;322	.	ENSP00000261819:R434C	R	-	1	0	ANAPC5	120250506	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.355000	0.73041	2.824000	0.97209	0.655000	0.94253	CGC		PASS	0.527	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			20	88	20	88	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124156062	124156062	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:124156062C>T	ENST00000303372.5	+	2	219	c.91C>T	c.(91-93)Cct>Tct	p.P31S	TCTN2_ENST00000426174.2_Missense_Mutation_p.P31S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	31					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.P31S(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		AGCTTTCATCCCTCCTTTTAT	0.617																																						uc001ufp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(91-93)CCT>TCT		tectonic family member 2 isoform 1							95.0	86.0	89.0					12																	124156062		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124156062C>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.91C>T	12.37:g.124156062C>T	ENSP00000304941:p.Pro31Ser					TCTN2_uc009zya.2_Missense_Mutation_p.P31S	p.P31S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	2	219	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		31			Extracellular (Potential).		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.91C>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800485	0.90538	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.90620	-2.7;-2.7	4.65	4.65	0.58169	.	0.153108	0.44688	D	0.000431	D	0.94873	0.8343	M	0.74881	2.28	0.47214	D	0.999351	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95349	0.8445	10	0.87932	D	0	-7.1734	16.2433	0.82426	0.0:1.0:0.0:0.0	.	31;31	A8K7Y8;Q96GX1	.;TECT2_HUMAN	S	31	ENSP00000395171:P31S;ENSP00000304941:P31S	ENSP00000304941:P31S	P	+	1	0	TCTN2	122722015	1.000000	0.71417	0.989000	0.46669	0.909000	0.53808	4.005000	0.57075	2.519000	0.84933	0.650000	0.86243	CCT		PASS	0.617	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		29	116	29	116	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129558905	129558905	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:129558905C>G	ENST00000422113.2	-	9	3141	c.2815G>C	c.(2815-2817)Gtg>Ctg	p.V939L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.V477L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	939					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.V939L(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)		GCAAAGGTCACACAGTTTATC	0.463																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2815-2817)GTG>CTG		transmembrane protein 132D precursor							122.0	109.0	113.0					12																	129558905		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558905C>G	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.2815G>C	12.37:g.129558905C>G	ENSP00000408581:p.Val939Leu					TMEM132D_uc001uia.2_Missense_Mutation_p.V477L	p.V939L	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3143	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	939			Cytoplasmic (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2815G>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.343998	0.24339	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14144	2.53;2.53	4.21	3.31	0.37934	.	0.103168	0.40818	N	0.001004	T	0.19446	0.0467	M	0.79475	2.455	0.34057	D	0.656884	P;P	0.44429	0.835;0.51	B;B	0.41271	0.352;0.21	T	0.38542	-0.9656	9	.	.	.	-14.1542	12.0213	0.53344	0.0:0.9138:0.0:0.0862	.	939;477	Q14C87;Q14C87-2	T132D_HUMAN;.	L	477;939	ENSP00000374092:V477L;ENSP00000408581:V939L	.	V	-	1	0	TMEM132D	128124858	0.889000	0.30405	0.008000	0.14137	0.177000	0.22998	2.164000	0.42387	0.870000	0.35726	0.467000	0.42956	GTG		PASS	0.463	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		46	124	46	124	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28971177	28971177	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:28971177G>A	ENST00000282397.4	-	12	1831	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	FLT1_ENST00000541932.1_Missense_Mutation_p.S527F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	527	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.S527F(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAAATTCTAGAGTCAGCCAC	0.398																																						uc001usb.3																			2	Substitution - Missense(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(1579-1581)TCT>TTT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						101.0	93.0	96.0					13																	28971177		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28971177G>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1580C>T	13.37:g.28971177G>A	ENSP00000282397:p.Ser527Phe					FLT1_uc010aar.1_Missense_Mutation_p.S527F|FLT1_uc001usc.3_Missense_Mutation_p.S527F|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.S10F	p.S527F	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	12	1865	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	527			Ig-like C2-type 5.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1580C>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374343	0.82573	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.35236	1.32;1.32	5.87	5.87	0.94306	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.243424	0.40818	N	0.001019	T	0.53254	0.1785	L	0.54323	1.7	0.80722	D	1	P;P;P	0.52170	0.951;0.951;0.703	P;P;P	0.57057	0.812;0.739;0.748	T	0.42498	-0.9448	10	0.45353	T	0.12	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	527;527;527	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	F	527	ENSP00000282397:S527F;ENSP00000437631:S527F	ENSP00000282397:S527F	S	-	2	0	FLT1	27869177	0.994000	0.37717	0.618000	0.29105	0.985000	0.73830	8.449000	0.90337	2.780000	0.95670	0.655000	0.94253	TCT		PASS	0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			33	38	33	38	---	---	---	---
CYSLTR2	57105	broad.mit.edu	37	13	49281473	49281473	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:49281473C>T	ENST00000282018.3	+	1	523	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	174					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)	p.L174L(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AATAATGCTCCTGGACAGTGG	0.483																																						uc010acx.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(520-522)CTG>TTG		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						128.0	124.0	126.0					13																	49281473		2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281473C>T	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.520C>T	13.37:g.49281473C>T						CYSLTR2_uc010acy.1_Silent_p.L174L|CYSLTR2_uc010acz.1_Silent_p.L174L|CYSLTR2_uc010ada.1_Silent_p.L174L|CYSLTR2_uc010adb.1_Silent_p.L174L|CYSLTR2_uc010adc.1_Silent_p.L174L|CYSLTR2_uc010add.1_Silent_p.L174L|CYSLTR2_uc010acw.1_Silent_p.L174L|CYSLTR2_uc001vck.2_Silent_p.L174L	p.L174L	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	1203	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	174			Helical; Name=4; (Potential).		Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.520C>T	CCDS9412.1																																																																																				PASS	0.483	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			62	147	62	147	---	---	---	---
OLFM4	10562	broad.mit.edu	37	13	53608502	53608502	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:53608502G>T	ENST00000219022.2	+	2	302	c.224G>T	c.(223-225)gGc>gTc	p.G75V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	75					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.G75V(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AATTTCACCGGCTCCGTGGAT	0.478																																						uc001vhl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(223-225)GGC>GTC		olfactomedin 4 precursor							155.0	132.0	140.0					13																	53608502		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53608502G>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.224G>T	13.37:g.53608502G>T	ENSP00000219022:p.Gly75Val					OLFM4_uc001vhk.1_Missense_Mutation_p.G75V	p.G75V	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	2	224	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	75					O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.224G>T	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357289	0.41801	.	.	ENSG00000102837	ENST00000219022	D	0.91792	-2.91	5.28	5.28	0.74379	.	0.058192	0.64402	D	0.000003	D	0.92532	0.7628	M	0.79926	2.475	0.80722	D	1	P	0.44690	0.841	B	0.41374	0.355	D	0.93553	0.6888	10	0.62326	D	0.03	.	17.0595	0.86543	0.0:0.0:1.0:0.0	.	75	Q6UX06	OLFM4_HUMAN	V	75	ENSP00000219022:G75V	ENSP00000219022:G75V	G	+	2	0	OLFM4	52506503	1.000000	0.71417	0.894000	0.35097	0.389000	0.30415	6.338000	0.72963	2.630000	0.89119	0.655000	0.94253	GGC		PASS	0.478	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		18	76	18	76	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58299162	58299162	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:58299162T>G	ENST00000377918.3	+	4	3240	c.3214T>G	c.(3214-3216)Ttg>Gtg	p.L1072V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1072					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1072V(2)|p.L1072L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTCAGTACTTGCCCACTGA	0.532																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		prostate(1)|large_intestine(1)|lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(3214-3216)TTG>GTG		protocadherin 17 precursor							107.0	103.0	104.0					13																	58299162		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299162T>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3214T>G	13.37:g.58299162T>G	ENSP00000367151:p.Leu1072Val					PCDH17_uc010aec.1_Missense_Mutation_p.L1071V|PCDH17_uc001vhr.1_Missense_Mutation_p.L161V	p.L1072V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	4106	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1072			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3214T>G	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	T	6.250	0.414235	0.11870	.	.	ENSG00000118946	ENST00000377918	T	0.50813	0.73	5.96	1.04	0.20106	.	0.144833	0.46758	D	0.000262	T	0.26521	0.0648	N	0.22421	0.69	0.31959	N	0.608665	B	0.20261	0.043	B	0.16722	0.016	T	0.15867	-1.0422	9	.	.	.	.	5.7106	0.17933	0.1369:0.428:0.0:0.4351	.	1072	O14917	PCD17_HUMAN	V	1072	ENSP00000367151:L1072V	.	L	+	1	2	PCDH17	57197163	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	0.380000	0.20602	0.182000	0.20032	0.533000	0.62120	TTG		PASS	0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		8	213	8	213	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76301206	76301206	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:76301206A>G	ENST00000341547.4	+	4	1598	c.338A>G	c.(337-339)aAt>aGt	p.N113S	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.N113S|LMO7_ENST00000357063.3_Missense_Mutation_p.N113S	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	113	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N113S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGAAGATCAATAGACTGTCT	0.318																																						uc010thv.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(337-339)AAT>AGT		LIM domain only 7 isoform 1							86.0	80.0	82.0					13																	76301206		2203	4299	6502	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76301206A>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.338A>G	13.37:g.76301206A>G	ENSP00000342112:p.Asn113Ser					LMO7_uc001vjt.1_Missense_Mutation_p.N61S	p.N113S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	4	1598	+		Breast(118;0.0992)	113			CH.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.338A>G	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.922845	0.73213	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.96664	0.8911	M	0.76727	2.345	0.39092	D	0.961128	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.994	D	0.97791	1.0238	10	0.87932	D	0	.	12.67	0.56862	1.0:0.0:0.0:0.0	.	113;61	Q8WWI1-3;F8J2B5	.;.	S	113;113;113;61	ENSP00000342112:N113S;ENSP00000349571:N113S;ENSP00000366757:N113S;ENSP00000366719:N61S	ENSP00000342112:N113S	N	+	2	0	LMO7	75199207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.635000	0.74295	1.975000	0.57531	0.533000	0.62120	AAT		PASS	0.318	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		22	73	22	73	---	---	---	---
KCTD12	115207	broad.mit.edu	37	13	77460056	77460056	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:77460056G>C	ENST00000377474.2	-	1	469	c.228C>G	c.(226-228)agC>agG	p.S76R	KCTD12_ENST00000317765.2_Missense_Mutation_p.S76R|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	76					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)	p.S76R(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		AGCGGCCTTTGCTGTCCCGGG	0.657																																						uc010aeu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(226-228)AGC>AGG		potassium channel tetramerisation domain							18.0	15.0	16.0					13																	77460056		2154	4231	6385	SO:0001583	missense	115207					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr13:77460056G>C	AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.228C>G	13.37:g.77460056G>C	ENSP00000366694:p.Ser76Arg					KCTD12_uc001vka.1_Missense_Mutation_p.S76R	p.S76R	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN		GBM - Glioblastoma multiforme(99;0.0499)	1	485	-		Breast(118;0.212)	76						Missense_Mutation	SNP	ENST00000377474.2	37	c.228C>G	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	g	18.93	3.728171	0.69074	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.76578	-1.03;-1.03	4.52	3.67	0.42095	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.079027	0.85682	D	0.000000	T	0.80265	0.4591	M	0.65320	2	0.48395	D	0.99964	D	0.60575	0.988	P	0.57057	0.812	T	0.79212	-0.1896	10	0.59425	D	0.04	.	5.9887	0.19448	0.1748:0.1576:0.6676:0.0	.	76	Q96CX2	KCD12_HUMAN	R	76	ENSP00000366694:S76R;ENSP00000317141:S76R	ENSP00000317141:S76R	S	-	3	2	KCTD12	76358057	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.112000	0.64634	1.024000	0.39682	0.450000	0.29827	AGC		PASS	0.657	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		9	23	9	23	---	---	---	---
SCEL	8796	broad.mit.edu	37	13	78177239	78177239	+	Missense_Mutation	SNP	G	G	T	rs371218981		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:78177239G>T	ENST00000349847.3	+	18	1150	c.1066G>T	c.(1066-1068)Gta>Tta	p.V356L	SCEL_ENST00000469982.1_Intron|SCEL_ENST00000377246.3_Missense_Mutation_p.V336L|SCEL-AS1_ENST00000457528.2_RNA|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000535157.1_Missense_Mutation_p.V334L	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	356	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.V356L(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGCTACTGAAGTAAATCCCAA	0.284																																						uc001vki.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)	5						c.(1066-1068)GTA>TTA		sciellin isoform 1							52.0	58.0	56.0					13																	78177239		2201	4298	6499	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78177239G>T	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1066G>T	13.37:g.78177239G>T	ENSP00000302579:p.Val356Leu					SCEL_uc001vkj.2_Missense_Mutation_p.V336L|SCEL_uc010thx.1_Missense_Mutation_p.V334L	p.V356L	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	18	1236	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	356			16 X approximate tandem repeats.|6.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.1066G>T	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072353	0.36566	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.24538	1.85;1.85;1.85	4.51	3.65	0.41850	.	0.267496	0.19541	N	0.111799	T	0.25717	0.0626	M	0.73217	2.22	0.19775	N	0.999958	B;P;P	0.38729	0.356;0.587;0.644	B;B;B	0.34931	0.104;0.146;0.192	T	0.20605	-1.0270	10	0.59425	D	0.04	-1.9424	7.9248	0.29867	0.12:0.0:0.88:0.0	.	334;336;356	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	L	334;336;356	ENSP00000437895:V334L;ENSP00000366454:V336L;ENSP00000302579:V356L	ENSP00000302579:V356L	V	+	1	0	SCEL	77075240	0.233000	0.23772	0.183000	0.23137	0.061000	0.15899	1.134000	0.31442	1.000000	0.39049	0.655000	0.94253	GTA		PASS	0.284	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		36	80	36	80	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79940805	79940805	+	Silent	SNP	C	C	T	rs367759226		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:79940805C>T	ENST00000438737.2	-	7	1538	c.1098G>A	c.(1096-1098)ccG>ccA	p.P366P	RBM26_ENST00000267229.7_Silent_p.P366P|RBM26_ENST00000438724.1_Silent_p.P366P|RBM26_ENST00000461008.1_5'UTR			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	366	Pro-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P366P(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ATGGACCTGGCGGTGGTACTG	0.498																																						uc001vkz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1096-1098)CCG>CCA		RNA binding motif protein 26		C		0,4406		0,0,2203	39.0	45.0	43.0		1098	-1.6	1.0	13		43	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RBM26	NM_022118.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		366/981	79940805	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79940805C>T	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1098G>A	13.37:g.79940805C>T						RBM26_uc001vky.2_Silent_p.P366P|RBM26_uc001vla.2_Silent_p.P366P|RBM26_uc001vkx.2_Silent_p.P78P|RBM26_uc001vlb.1_RNA	p.P366P	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	7	1112	-		Acute lymphoblastic leukemia(28;0.0279)	366			Pro-rich.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	ENST00000438737.2	37	c.1098G>A																																																																																					PASS	0.498	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		34	79	34	79	---	---	---	---
FARP1	10160	broad.mit.edu	37	13	99099054	99099054	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:99099054C>T	ENST00000319562.6	+	26	3304	c.3039C>T	c.(3037-3039)agC>agT	p.S1013S	FARP1_ENST00000376586.2_Silent_p.S1044S|FARP1_ENST00000595437.1_Silent_p.S1044S	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	1013	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1044S(1)|p.S1013S(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGGCGGAAAGCGAGTACACGT	0.552																																						uc001vnj.2																			2	Substitution - coding silent(2)		lung(2)	breast(2)	2						c.(3037-3039)AGC>AGT		FERM, RhoGEF, and pleckstrin domain protein 1							175.0	131.0	146.0					13																	99099054		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99099054C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.3039C>T	13.37:g.99099054C>T						FARP1_uc001vnh.2_Silent_p.S1044S	p.S1013S	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		26	3375	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1013			PH 2.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.3039C>T	CCDS9487.1																																																																																				PASS	0.552	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		43	126	43	126	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101707828	101707828	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:101707828A>T	ENST00000251127.6	-	44	5117	c.5036T>A	c.(5035-5037)aTa>aAa	p.I1679K	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1679					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.I1679K(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAATGGCTTATTGGTTTTGG	0.458																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(5035-5037)ATA>AAA		voltage gated channel like 1							171.0	159.0	163.0					13																	101707828		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101707828A>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.5036T>A	13.37:g.101707828A>T	ENSP00000251127:p.Ile1679Lys						p.I1679K	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			44	5225	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1679			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.5036T>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.262177	0.39995	.	.	ENSG00000102452	ENST00000251127	D	0.97575	-4.44	5.66	3.23	0.37069	.	0.470612	0.24962	N	0.034202	D	0.88876	0.6556	N	0.08118	0	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.79614	-0.1730	10	0.06891	T	0.86	.	7.1839	0.25789	0.754:0.1232:0.1228:0.0	.	1679	Q8IZF0	NALCN_HUMAN	K	1679	ENSP00000251127:I1679K	ENSP00000251127:I1679K	I	-	2	0	NALCN	100505829	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.309000	0.51903	0.425000	0.26087	0.533000	0.62120	ATA		PASS	0.458	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		62	301	62	301	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101881753	101881753	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:101881753C>A	ENST00000251127.6	-	13	1698	c.1617G>T	c.(1615-1617)acG>acT	p.T539T	NALCN_ENST00000376196.3_Silent_p.T539T|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	539					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.T539T(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCTCGGAAACGTAGTAAATC	0.328																																						uc001vox.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1615-1617)ACG>ACT		voltage gated channel like 1							86.0	91.0	89.0					13																	101881753		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101881753C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1617G>T	13.37:g.101881753C>A						NALCN_uc001voy.2_Silent_p.T254T|NALCN_uc001voz.2_Silent_p.T539T|NALCN_uc001vpa.2_Silent_p.T539T	p.T539T	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			13	1806	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		539			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.1617G>T	CCDS9498.1																																																																																				PASS	0.328	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		62	224	62	224	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103520492	103520492	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:103520492G>T	ENST00000355739.4	+	12	3986	c.2563G>T	c.(2563-2565)Gct>Tct	p.A855S	ERCC5_ENST00000375954.1_Missense_Mutation_p.A88S|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.G1280V	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	855	I-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.A855S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AATAAATTTGGCTTATTTGCT	0.328			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(2563-2565)GCT>TCT	Direct_reversal_of_damage|NER	XPG-complementing protein							77.0	82.0	81.0					13																	103520492		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103520492G>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2563G>T	13.37:g.103520492G>T	ENSP00000347978:p.Ala855Ser					ERCC5_uc001vpu.1_Missense_Mutation_p.A1309S|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.A687S	p.A855S	NM_000123	NP_000114	P28715	ERCC5_HUMAN			12	3006	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		855			I-domain.		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.2563G>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285987	0.95517	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.72505	0.56;-0.66	5.02	5.02	0.67125	-3&apos (1);Helix-hairpin-helix motif, class 2 (1);XPG/RAD2 endonuclease (1); exonuclease, C-terminal domain (1);5&apos (1);	0.052894	0.85682	D	0.000000	D	0.86049	0.5840	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	D	0.87991	0.2749	10	0.59425	D	0.04	-13.2868	18.34	0.90302	0.0:0.0:1.0:0.0	.	855;1280	P28715;Q59FZ7	ERCC5_HUMAN;.	S	1280;855;687;88	ENSP00000347978:A855S;ENSP00000365121:A88S	ENSP00000347978:A855S	A	+	1	0	ERCC5	102318493	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.842000	0.86851	2.353000	0.79882	0.491000	0.48974	GCT		PASS	0.328	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			45	140	45	140	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861015	108861015	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:108861015C>A	ENST00000356922.4	-	2	2874	c.2602G>T	c.(2602-2604)Gat>Tat	p.D868Y	LIG4_ENST00000442234.1_Missense_Mutation_p.D868Y|LIG4_ENST00000405925.1_Missense_Mutation_p.D868Y	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	868	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.D868Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CGACTATGATCTTCCCCAATT	0.368								Non-homologous end-joining																														uc001vqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2602-2604)GAT>TAT	NHEJ	DNA ligase IV							99.0	97.0	98.0					13																	108861015		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861015C>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2602G>T	13.37:g.108861015C>A	ENSP00000349393:p.Asp868Tyr					LIG4_uc001vqo.2_Missense_Mutation_p.D868Y|LIG4_uc010agg.1_Missense_Mutation_p.D801Y|LIG4_uc010agf.2_Missense_Mutation_p.D868Y|LIG4_uc001vqp.2_Missense_Mutation_p.D868Y	p.D868Y	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	2875	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		868			BRCT 2.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2602G>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211146	0.58343	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.50548	0.74;0.74;0.74	5.75	5.75	0.90469	BRCT (4);	0.159635	0.56097	D	0.000035	T	0.47764	0.1463	M	0.74258	2.255	0.54753	D	0.999985	P	0.42785	0.79	B	0.29942	0.109	T	0.59500	-0.7443	10	0.72032	D	0.01	.	18.9991	0.92826	0.0:1.0:0.0:0.0	.	868	P49917	DNLI4_HUMAN	Y	868	ENSP00000385955:D868Y;ENSP00000402030:D868Y;ENSP00000349393:D868Y	ENSP00000349393:D868Y	D	-	1	0	LIG4	107659016	0.997000	0.39634	0.894000	0.35097	0.983000	0.72400	3.459000	0.53021	2.737000	0.93849	0.567000	0.79289	GAT		PASS	0.368	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		22	125	22	125	---	---	---	---
ATP4B	496	broad.mit.edu	37	13	114312455	114312455	+	Missense_Mutation	SNP	G	G	C	rs139992135	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr13:114312455G>C	ENST00000335288.4	-	1	46	c.5C>G	c.(4-6)gCg>gGg	p.A2G		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	2					cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)	p.A2G(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			CTGCAGAGCCGCCATCGTCCC	0.637																																						uc001vtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)GCG>GGG		hydrogen/potassium-exchanging ATPase 4B	Rabeprazole(DB01129)						39.0	37.0	37.0					13																	114312455		2201	4299	6500	SO:0001583	missense	496				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity	g.chr13:114312455G>C		CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"""ATPases / P-type"""	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.5C>G	13.37:g.114312455G>C	ENSP00000334216:p.Ala2Gly					ATP4B_uc010agy.1_Missense_Mutation_p.A2G	p.A2G	NM_000705	NP_000696	P51164	ATP4B_HUMAN	all cancers(43;0.171)		1	47	-	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	2			Cytoplasmic (Potential).		B1B0N8	Missense_Mutation	SNP	ENST00000335288.4	37	c.5C>G	CCDS9539.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922195	0.52653	.	.	ENSG00000186009	ENST00000335288	T	0.40476	1.03	4.41	4.41	0.53225	.	0.145336	0.42420	D	0.000716	T	0.59636	0.2208	L	0.54323	1.7	0.47037	D	0.999291	D	0.89917	1.0	D	0.91635	0.999	T	0.61272	-0.7096	10	0.51188	T	0.08	-31.8295	15.954	0.79865	0.0:0.0:1.0:0.0	.	2	P51164	ATP4B_HUMAN	G	2	ENSP00000334216:A2G	ENSP00000334216:A2G	A	-	2	0	ATP4B	113360456	1.000000	0.71417	0.929000	0.37066	0.035000	0.12851	7.424000	0.80242	2.265000	0.75225	0.555000	0.69702	GCG		PASS	0.637	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276703.2	NM_000705		9	14	9	14	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19573144	19573144	+	Splice_Site	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:19573144G>T	ENST00000409832.3	+	8	1294	c.1242G>T	c.(1240-1242)aaG>aaT	p.K414N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	414								p.K414N(1)|p.K414K(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGATAGAAAGGTATACTTTT	0.318																																						uc001vuz.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(1240-1242)AAG>AAT		POTE ankyrin domain family, member G							147.0	155.0	152.0					14																	19573144		2199	4291	6490	SO:0001630	splice_region_variant	404785							g.chr14:19573144G>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1242+1G>T	14.37:g.19573144G>T						POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.K414N	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			8	1294	+			414					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1242G>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	2.291	-0.362477	0.05103	.	.	ENSG00000222036	ENST00000409832	T	0.28069	1.63	0.993	0.993	0.19825	.	.	.	.	.	T	0.13286	0.0322	N	0.08118	0	0.09310	N	1	B	0.23735	0.09	B	0.18871	0.023	T	0.23154	-1.0196	9	0.30854	T	0.27	.	5.373	0.16150	0.0:0.0:1.0:0.0	.	414	Q6S5H5	POTEG_HUMAN	N	414	ENSP00000386971:K414N	ENSP00000386971:K414N	K	+	3	2	POTEG	18643144	0.002000	0.14202	0.035000	0.18076	0.021000	0.10359	0.122000	0.15687	0.847000	0.35167	0.184000	0.17185	AAG		PASS	0.318	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	Missense_Mutation	9	87	9	87	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21993777	21993777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:21993777C>A	ENST00000327430.3	-	2	379	c.85G>T	c.(85-87)Gag>Tag	p.E29*	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Nonsense_Mutation_p.E29*|SALL2_ENST00000538754.1_Nonsense_Mutation_p.E27*|SALL2_ENST00000450879.2_Nonsense_Mutation_p.E27*	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	29					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.E29*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGATCCTCCTCGCTAGCATCA	0.557																																						uc001wbe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(85-87)GAG>TAG		sal-like 2							75.0	62.0	66.0					14																	21993777		2203	4300	6503	SO:0001587	stop_gained	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993777C>A	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.85G>T	14.37:g.21993777C>A	ENSP00000333537:p.Glu29*					SALL2_uc010tly.1_Nonsense_Mutation_p.E27*|SALL2_uc010tlz.1_Nonsense_Mutation_p.E27*|SALL2_uc001wbf.3_Nonsense_Mutation_p.E27*|SALL2_uc010tma.1_Nonsense_Mutation_p.E29*|SALL2_uc001wbg.1_Nonsense_Mutation_p.E29*	p.E29*	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	367	-	all_cancers(95;0.000662)		29					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Nonsense_Mutation	SNP	ENST00000327430.3	37	c.85G>T	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	C	34	5.399427	0.96030	.	.	ENSG00000165821	ENST00000327430;ENST00000317492;ENST00000538754;ENST00000450879;ENST00000541876;ENST00000537235	.	.	.	4.01	4.01	0.46588	.	0.384426	0.18910	N	0.127792	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-25.0035	13.7125	0.62675	0.0:1.0:0.0:0.0	.	.	.	.	X	29;29;27;27;29;27	.	ENSP00000320536:E29X	E	-	1	0	SALL2	21063617	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	3.053000	0.49901	2.096000	0.63516	0.558000	0.71614	GAG		PASS	0.557	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		9	72	9	72	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24523975	24523975	+	Missense_Mutation	SNP	C	C	T	rs370361215		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:24523975C>T	ENST00000342740.5	+	6	572	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	140						cytoplasm (GO:0005737)		p.P140S(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AGATACATCCCCCAACTCTGA	0.562																																						uc001wlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(418-420)CCC>TCC		leucine rich repeat containing 16B		C	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	59.0	63.0	62.0		418	4.2	1.0	14		62	0,8600		0,0,4300	no	missense	LRRC16B	NM_138360.3	74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	140/1373	24523975	1,13005	2203	4300	6503	SO:0001583	missense	90668							g.chr14:24523975C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.418C>T	14.37:g.24523975C>T	ENSP00000340467:p.Pro140Ser						p.P140S	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	6	575	+			140					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.418C>T	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699799	0.48307	2.27E-4	0.0	ENSG00000186648	ENST00000342740	T	0.14266	2.52	4.17	4.17	0.49024	.	0.163553	0.41823	D	0.000809	T	0.22513	0.0543	L	0.39898	1.24	0.80722	D	1	D	0.57571	0.98	D	0.70227	0.968	T	0.02444	-1.1158	10	0.09590	T	0.72	-17.5957	12.1519	0.54053	0.0:1.0:0.0:0.0	.	140	Q8ND23	LR16B_HUMAN	S	140	ENSP00000340467:P140S	ENSP00000340467:P140S	P	+	1	0	LRRC16B	23593815	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.182000	0.65059	2.305000	0.77605	0.462000	0.41574	CCC		PASS	0.562	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		22	101	22	101	---	---	---	---
GZMB	3002	broad.mit.edu	37	14	25102258	25102258	+	Silent	SNP	G	G	A	rs139103546		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:25102258G>A	ENST00000216341.4	-	2	172	c.66C>T	c.(64-66)atC>atT	p.I22I	RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_Silent_p.I22I|GZMB_ENST00000382542.1_Silent_p.I56I|GZMB_ENST00000382540.1_Silent_p.I22I|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_Silent_p.I10I			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	22	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.I56I(1)|p.I22I(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CATGTCCCCCGATGATCTCCC	0.567																																						uc001wps.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(64-66)ATC>ATT		granzyme B precursor		G		0,4406		0,0,2203	110.0	111.0	110.0		66	2.2	1.0	14	dbSNP_134	110	1,8599		0,1,4299	no	coding-synonymous	GZMB	NM_004131.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		22/248	25102258	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25102258G>A	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.66C>T	14.37:g.25102258G>A						GZMB_uc010ama.2_Silent_p.I10I|GZMB_uc010amb.2_RNA	p.I22I	NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	2	132	-			22			Peptidase S1.		Q8N1D2|Q9UCC1	Silent	SNP	ENST00000216341.4	37	c.66C>T	CCDS9633.1																																																																																				PASS	0.567	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		47	264	47	264	---	---	---	---
STRN3	29966	broad.mit.edu	37	14	31376206	31376206	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:31376206C>A	ENST00000357479.5	-	14	1961	c.1765G>T	c.(1765-1767)Gtt>Ttt	p.V589F	STRN3_ENST00000355683.5_Missense_Mutation_p.V505F	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	589					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V589F(1)|p.V505F(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AGACCCCAAACTGCATCTGTA	0.353																																						uc001wqu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1765-1767)GTT>TTT		nuclear autoantigen isoform 1							108.0	103.0	105.0					14																	31376206		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31376206C>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1765G>T	14.37:g.31376206C>A	ENSP00000350071:p.Val589Phe					STRN3_uc001wqv.2_Missense_Mutation_p.V505F|STRN3_uc010tpj.1_RNA	p.V589F	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	14	1981	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		589			WD 3.		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.1765G>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953680	0.92660	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.73897	-0.79;-0.79	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90943	0.7153	H	0.95816	3.725	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.87578	0.891;0.998	D	0.93173	0.6568	10	0.87932	D	0	0.2288	19.579	0.95458	0.0:1.0:0.0:0.0	.	505;589	Q13033-2;Q13033	.;STRN3_HUMAN	F	505;589	ENSP00000347909:V505F;ENSP00000350071:V589F	ENSP00000347909:V505F	V	-	1	0	STRN3	30445957	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.516000	0.67055	2.626000	0.88956	0.563000	0.77884	GTT		PASS	0.353	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		43	146	43	146	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44976081	44976081	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:44976081C>T	ENST00000340446.4	-	1	401	c.110G>A	c.(109-111)aGc>aAc	p.S37N	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	37						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.S37N(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GCTGCCTTTGCTTCCAGAAGT	0.413																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(109-111)AGC>AAC		fibrous sheath CABYR binding protein							210.0	203.0	206.0					14																	44976081		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44976081C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.110G>A	14.37:g.44976081C>T	ENSP00000344579:p.Ser37Asn						p.S37N	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	419	-			37					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.110G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122261	0.56613	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.19806	2.12	5.49	3.68	0.42216	.	.	.	.	.	T	0.27313	0.0670	L	0.50333	1.59	0.22779	N	0.998741	P	0.50272	0.933	P	0.50049	0.629	T	0.06643	-1.0815	9	0.52906	T	0.07	0.1213	8.6182	0.33845	0.0:0.825:0.0:0.175	.	37	Q5H9T9	FSCB_HUMAN	N	37	ENSP00000344579:S37N	ENSP00000344579:S37N	S	-	2	0	FSCB	44045831	0.815000	0.29118	0.639000	0.29394	0.595000	0.36748	0.848000	0.27710	0.819000	0.34492	0.555000	0.69702	AGC		PASS	0.413	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		51	326	51	326	---	---	---	---
KLHL28	54813	broad.mit.edu	37	14	45414769	45414769	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:45414769C>A	ENST00000396128.4	-	2	482	c.363G>T	c.(361-363)ctG>ctT	p.L121L	KLHL28_ENST00000355081.2_Silent_p.L135L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	121								p.L121L(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AACATTCTTTCAGGACAAGTT	0.408																																						uc001wvq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(361-363)CTG>CTT		BTB (POZ) domain containing 5							59.0	59.0	59.0					14																	45414769		2203	4300	6503	SO:0001819	synonymous_variant	54813							g.chr14:45414769C>A	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.363G>T	14.37:g.45414769C>A						KLHL28_uc001wvr.2_Silent_p.L121L|KLHL28_uc001wvt.3_Silent_p.L121L	p.L121L	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN			2	609	-			121					Q0VAL5	Silent	SNP	ENST00000396128.4	37	c.363G>T	CCDS9680.1																																																																																				PASS	0.408	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			26	103	26	103	---	---	---	---
RPL10L	140801	broad.mit.edu	37	14	47120628	47120629	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:47120628_47120629GG>TT	ENST00000298283.3	-	1	399_400	c.311_312CC>AA	c.(310-312)tCC>tAA	p.S104*		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	104					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.S104Y(1)|p.S104S(1)|p.S104*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CCCCAGCACAGGACAACATCTT	0.53																																						uc001wwg.2																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(310-312)TCC>TCA|c.(310-312)TCC>TAC		ribosomal protein L10-like protein																																				SO:0001587	stop_gained	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120628G>T|g.chr14:47120629G>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.311_312delinsTT	14.37:g.47120628_47120629delinsTT	ENSP00000298283:p.Ser104*						p.S104S|p.S104Y	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	401|400	-			104					Q8IUD1	Silent|Missense_Mutation	SNP	ENST00000298283.3	37	c.312C>A|c.311C>A	CCDS32071.1																																																																																				PASS	0.530	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			27	100	27	100	---	---	---	---
LRR1	122769	broad.mit.edu	37	14	50065836	50065836	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:50065836G>A	ENST00000298288.6	+	1	422	c.98G>A	c.(97-99)tGt>tAt	p.C33Y	RPS29_ENST00000557111.1_5'Flank|LRR1_ENST00000318317.4_Missense_Mutation_p.C33Y|AL139099.1_ENST00000539688.1_5'UTR	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	33					protein ubiquitination (GO:0016567)			p.C33Y(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGAGCCTCTGTCAGCAGACT	0.637																																						uc001wwn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)TGT>TAT		peptidylprolyl isomerase (cyclophilin)-like 5							45.0	36.0	39.0					14																	50065836		2201	4300	6501	SO:0001583	missense	122769							g.chr14:50065836G>A	BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.98G>A	14.37:g.50065836G>A	ENSP00000298288:p.Cys33Tyr					SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Missense_Mutation_p.C33Y|PPIL5_uc010ank.2_5'UTR|PPIL5_uc001wwp.2_RNA	p.C33Y	NM_152329	NP_689542	Q96L50	LLR1_HUMAN			1	422	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		33					A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	ENST00000298288.6	37	c.98G>A	CCDS9686.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.927027	0.52759	.	.	ENSG00000165501	ENST00000298288;ENST00000361579;ENST00000318317	T	0.40476	1.03	5.18	4.29	0.51040	.	0.052076	0.85682	D	0.000000	T	0.45696	0.1355	L	0.55481	1.735	0.31695	N	0.641448	D;P	0.69078	0.997;0.906	P;B	0.58820	0.846;0.36	T	0.47275	-0.9130	10	0.02654	T	1	-1.6881	9.3932	0.38386	0.0799:0.1453:0.7748:0.0	.	33;33	Q96L50-2;Q96L50	.;LLR1_HUMAN	Y	33	ENSP00000298288:C33Y	ENSP00000298288:C33Y	C	+	2	0	LRR1	49135586	1.000000	0.71417	0.403000	0.26384	0.810000	0.45777	3.163000	0.50763	1.572000	0.49736	0.558000	0.71614	TGT		PASS	0.637	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1	NM_203467		3	19	3	19	---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59112428	59112428	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:59112428A>T	ENST00000335867.4	+	4	1111	c.1087A>T	c.(1087-1089)Aac>Tac	p.N363Y	DACT1_ENST00000395153.3_Missense_Mutation_p.N326Y|DACT1_ENST00000541264.2_Missense_Mutation_p.N82Y|DACT1_ENST00000556859.1_Missense_Mutation_p.N82Y			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	363					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.N363Y(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AACCAGCGTGAACGCTGACCC	0.517																																						uc001xdw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(1087-1089)AAC>TAC		dapper 1 isoform 1							60.0	60.0	60.0					14																	59112428		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112428A>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1087A>T	14.37:g.59112428A>T	ENSP00000337439:p.Asn363Tyr					DACT1_uc010trv.1_Missense_Mutation_p.N82Y|DACT1_uc001xdx.2_Missense_Mutation_p.N326Y|DACT1_uc010trw.1_Missense_Mutation_p.N82Y	p.N363Y	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1251	+			363					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1087A>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858147	0.71834	.	.	ENSG00000165617	ENST00000556859;ENST00000421793;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.46	5.46	0.80206	.	0.240791	0.47852	D	0.000220	T	0.65943	0.2740	M	0.67953	2.075	0.58432	D	0.999995	D;D	0.61697	0.99;0.99	D;D	0.65987	0.935;0.94	T	0.69555	-0.5114	10	0.72032	D	0.01	-9.4124	15.52	0.75857	1.0:0.0:0.0:0.0	.	326;363	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	Y	82;82;82;326;363;82	ENSP00000451598:N82Y;ENSP00000404297:N82Y;ENSP00000378581:N82Y;ENSP00000378582:N326Y;ENSP00000337439:N363Y;ENSP00000442850:N82Y	ENSP00000337439:N363Y	N	+	1	0	DACT1	58182181	1.000000	0.71417	0.925000	0.36789	0.907000	0.53573	8.605000	0.90883	2.083000	0.62718	0.460000	0.39030	AAC		PASS	0.517	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		14	76	14	76	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68265178	68265178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:68265178C>A	ENST00000347230.4	-	11	1939	c.1801G>T	c.(1801-1803)Gag>Tag	p.E601*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.E601*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	601					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.E601*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCATCATCCTCAGCATAGTCC	0.522																																						uc001xka.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|breast(2)	11						c.(1801-1803)GAG>TAG		zinc finger, FYVE domain containing 26							78.0	71.0	73.0					14																	68265178		2203	4300	6503	SO:0001587	stop_gained	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68265178C>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1801G>T	14.37:g.68265178C>A	ENSP00000251119:p.Glu601*					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Nonsense_Mutation_p.E601*|ZFYVE26_uc010tta.1_Nonsense_Mutation_p.E601*	p.E601*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	11	1940	-			601					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Nonsense_Mutation	SNP	ENST00000347230.4	37	c.1801G>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	39	7.900156	0.98551	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	.	.	.	5.71	3.86	0.44501	.	0.278054	0.32736	N	0.005701	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-7.0	11.8493	0.52401	0.0:0.8107:0.1227:0.0666	.	.	.	.	X	601;580;601	.	ENSP00000251119:E601X	E	-	1	0	ZFYVE26	67334931	0.973000	0.33851	0.999000	0.59377	0.994000	0.84299	2.291000	0.43540	0.752000	0.32923	0.655000	0.94253	GAG		PASS	0.522	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		27	109	27	109	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68268906	68268906	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:68268906G>T	ENST00000347230.4	-	10	1667	c.1529C>A	c.(1528-1530)gCc>gAc	p.A510D	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A510D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	510					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.A510D(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TACACAGAGGGCATAGATGGC	0.542																																						uc001xka.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)	11						c.(1528-1530)GCC>GAC		zinc finger, FYVE domain containing 26							143.0	128.0	133.0					14																	68268906		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68268906G>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1529C>A	14.37:g.68268906G>T	ENSP00000251119:p.Ala510Asp					ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Missense_Mutation_p.A510D|ZFYVE26_uc010tta.1_Missense_Mutation_p.A510D	p.A510D	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	10	1668	-			510					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.1529C>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283726	0.95489	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.50277	0.92;0.75	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.69717	0.3142	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.70245	-0.4925	10	0.72032	D	0.01	-15.9589	20.1162	0.97934	0.0:0.0:1.0:0.0	.	510;510;510	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	D	510;489;510	ENSP00000251119:A510D;ENSP00000450603:A510D	ENSP00000251119:A510D	A	-	2	0	ZFYVE26	67338659	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.206000	0.95056	2.756000	0.94617	0.655000	0.94253	GCC		PASS	0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		39	217	39	217	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824129	74824129	+	Missense_Mutation	SNP	C	C	A	rs142400429		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:74824129C>A	ENST00000256362.4	+	2	884	c.643C>A	c.(643-645)Ccc>Acc	p.P215T		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	215					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.P215T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CGACCACGTGCCCTCCACGCT	0.637																																						uc001xpw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(643-645)CCC>ACC		hypothetical protein LOC55237							74.0	68.0	70.0					14																	74824129		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824129C>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.643C>A	14.37:g.74824129C>A	ENSP00000256362:p.Pro215Thr						p.P215T	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	834	+			215					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.643C>A	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	2.911	-0.225332	0.06022	.	.	ENSG00000133980	ENST00000256362	T	0.42513	0.97	5.05	3.18	0.36537	.	0.142486	0.47455	N	0.000234	T	0.19446	0.0467	N	0.14661	0.345	0.25876	N	0.983646	B	0.21071	0.051	B	0.14023	0.01	T	0.12041	-1.0563	10	0.19147	T	0.46	-0.4904	3.3135	0.07025	0.3267:0.4473:0.1412:0.0849	.	215	Q9H8Y1	VRTN_HUMAN	T	215	ENSP00000256362:P215T	ENSP00000256362:P215T	P	+	1	0	VRTN	73893882	0.951000	0.32395	0.448000	0.26945	0.667000	0.39255	1.581000	0.36558	0.678000	0.31325	0.561000	0.74099	CCC		PASS	0.637	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		14	88	14	88	---	---	---	---
AREL1	9870	broad.mit.edu	37	14	75143291	75143291	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:75143291G>C	ENST00000356357.4	-	6	1161	c.646C>G	c.(646-648)Cat>Gat	p.H216D	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	216					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.H216D(1)									CTTACCTCATGAATGGACAAG	0.453																																						uc001xqb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(646-648)CAT>GAT		hypothetical protein LOC9870							214.0	210.0	211.0					14																	75143291		1990	4164	6154	SO:0001583	missense	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75143291G>C	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.646C>G	14.37:g.75143291G>C	ENSP00000348714:p.His216Asp					KIAA0317_uc010tut.1_Missense_Mutation_p.H55D|KIAA0317_uc001xqc.2_Missense_Mutation_p.H216D	p.H216D	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	6	1151	-			216					B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.646C>G	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545209	0.45280	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.52057	0.68;0.68	5.33	5.33	0.75918	.	0.095192	0.64402	D	0.000001	T	0.42268	0.1195	L	0.47716	1.5	0.58432	D	0.999995	B;B	0.27732	0.187;0.06	B;B	0.27500	0.08;0.031	T	0.28267	-1.0049	10	0.36615	T	0.2	.	13.9338	0.64012	0.0:0.0:0.848:0.152	.	216;216	O15033-2;O15033	.;K0317_HUMAN	D	216;55;55	ENSP00000348714:H216D;ENSP00000452101:H55D	ENSP00000348714:H216D	H	-	1	0	KIAA0317	74213044	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.961000	0.63681	2.496000	0.84212	0.491000	0.48974	CAT		PASS	0.453	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		51	142	51	142	---	---	---	---
ZC2HC1C	79696	broad.mit.edu	37	14	75537471	75537471	+	Silent	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:75537471G>A	ENST00000524913.1	+	2	684	c.195G>A	c.(193-195)ctG>ctA	p.L65L	ACYP1_ENST00000555463.1_5'Flank|ZC2HC1C_ENST00000439583.2_Silent_p.L65L|ZC2HC1C_ENST00000238686.8_Silent_p.L65L|ZC2HC1C_ENST00000526748.1_Intron	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	65							metal ion binding (GO:0046872)	p.L65L(1)									AGTTGATTCTGGATAAAGTCT	0.473																																						uc001xri.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(193-195)CTG>CTA		chromosome 14 open reading frame 140 isoform b							151.0	152.0	152.0					14																	75537471		1838	4095	5933	SO:0001819	synonymous_variant	79696							g.chr14:75537471G>A	AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"""Zinc fingers, C2HC-type containing"""	20354	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 140"", ""family with sequence similarity 164, member C"""	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.195G>A	14.37:g.75537471G>A						FAM164C_uc001xrh.2_Silent_p.L65L	p.L65L	NM_001042430	NP_001035895	Q53FD0	F164C_HUMAN			2	368	+			65					E9PJQ0|Q9BTA8|Q9H5S9	Silent	SNP	ENST00000524913.1	37	c.195G>A	CCDS41972.1																																																																																				PASS	0.473	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430		110	276	110	276	---	---	---	---
GPR65	8477	broad.mit.edu	37	14	88477477	88477477	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:88477477A>C	ENST00000267549.3	+	2	844	c.286A>C	c.(286-288)Atg>Ctg	p.M96L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	96					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M96L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TCTCATGTACATGAATTTTTA	0.413																																						uc001xvv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)ATG>CTG		G protein-coupled receptor 65							205.0	197.0	200.0					14																	88477477		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477477A>C	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.286A>C	14.37:g.88477477A>C	ENSP00000267549:p.Met96Leu						p.M96L	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			2	816	+			96			Helical; Name=3; (Potential).		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.286A>C	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.725502	0.30593	.	.	ENSG00000140030	ENST00000267549	T	0.70749	-0.51	5.82	-10.3	0.00346	GPCR, rhodopsin-like superfamily (1);	0.480344	0.20659	N	0.088050	T	0.31638	0.0803	N	0.11000	0.08	0.27107	N	0.962488	B	0.02656	0.0	B	0.04013	0.001	T	0.44832	-0.9302	10	0.09590	T	0.72	.	2.3447	0.04269	0.3191:0.3625:0.1272:0.1913	.	96	Q8IYL9	PSYR_HUMAN	L	96	ENSP00000267549:M96L	ENSP00000267549:M96L	M	+	1	0	GPR65	87547230	0.158000	0.22850	0.538000	0.28064	0.672000	0.39443	-0.142000	0.10311	-1.815000	0.01222	0.528000	0.53228	ATG		PASS	0.413	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			132	375	132	375	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88729855	88729855	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:88729855G>T	ENST00000340700.5	-	2	529	c.78C>A	c.(76-78)agC>agA	p.S26R	KCNK10_ENST00000319231.5_Missense_Mutation_p.S31R|KCNK10_ENST00000312350.5_Missense_Mutation_p.S31R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	26					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.S31R(2)|p.S26R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CGTTAGTGGCGCTCTTGGGCT	0.592																																						uc001xwo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(76-78)AGC>AGA		potassium channel, subfamily K, member 10							35.0	41.0	39.0					14																	88729855		2200	4297	6497	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88729855G>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.78C>A	14.37:g.88729855G>T	ENSP00000343104:p.Ser26Arg					KCNK10_uc001xwm.2_Missense_Mutation_p.S31R|KCNK10_uc001xwn.2_Missense_Mutation_p.S31R	p.S26R	NM_021161	NP_066984	P57789	KCNKA_HUMAN			2	535	-			26			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.78C>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193791	0.38707	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	D;D;D;T	0.91237	-2.77;-2.81;-2.73;0.84	5.87	-10.4	0.00318	.	0.884189	0.10233	N	0.699348	D	0.82323	0.5012	L	0.29908	0.895	0.09310	N	0.999999	B;B;B	0.34015	0.175;0.435;0.353	B;B;B	0.33042	0.112;0.084;0.157	T	0.69914	-0.5016	10	0.62326	D	0.03	.	16.4616	0.84056	0.1505:0.1848:0.6646:0.0	.	26;31;31	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	26;31;31;14	ENSP00000343104:S26R;ENSP00000310568:S31R;ENSP00000312811:S31R;ENSP00000452587:S14R	ENSP00000310568:S31R	S	-	3	2	KCNK10	87799608	0.990000	0.36364	0.061000	0.19648	0.606000	0.37113	0.460000	0.21924	-2.039000	0.00917	-1.934000	0.00508	AGC		PASS	0.592	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		37	121	37	121	---	---	---	---
SLC24A4	123041	broad.mit.edu	37	14	92908488	92908488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:92908488C>A	ENST00000532405.1	+	5	675	c.449C>A	c.(448-450)tCa>tAa	p.S150*	SLC24A4_ENST00000531433.1_Nonsense_Mutation_p.S150*|SLC24A4_ENST00000351924.5_Nonsense_Mutation_p.S133*|SLC24A4_ENST00000298877.1_Nonsense_Mutation_p.S133*|SLC24A4_ENST00000393265.2_Nonsense_Mutation_p.S86*			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	150					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.S133*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAGGAAGCTCAACGCCAGAG	0.557																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2																			1	Substitution - Nonsense(1)		lung(1)	breast(2)|ovary(1)	3						c.(397-399)TCA>TAA		solute carrier family 24 member 4 isoform 1							92.0	83.0	86.0					14																	92908488		2203	4300	6503	SO:0001587	stop_gained	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92908488C>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.449C>A	14.37:g.92908488C>A	ENSP00000431840:p.Ser150*					SLC24A4_uc001yai.2_Nonsense_Mutation_p.S86*|SLC24A4_uc010twm.1_Nonsense_Mutation_p.S150*|SLC24A4_uc001yaj.2_Nonsense_Mutation_p.S133*|SLC24A4_uc010auj.2_Nonsense_Mutation_p.S41*|SLC24A4_uc010twn.1_5'Flank	p.S133*	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	5	422	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	150			Cytoplasmic (Potential).|Alpha-1.		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Nonsense_Mutation	SNP	ENST00000532405.1	37	c.398C>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	36	5.762062	0.96906	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079;ENST00000554461	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4129	0.94683	0.0:1.0:0.0:0.0	.	.	.	.	X	86;150;150;133;133;41;41	.	ENSP00000298877:S133X	S	+	2	0	SLC24A4	91978241	1.000000	0.71417	0.962000	0.40283	0.633000	0.38033	7.552000	0.82192	2.652000	0.90054	0.655000	0.94253	TCA		PASS	0.557	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		12	100	12	100	---	---	---	---
TCL1B	9623	broad.mit.edu	37	14	96152930	96152930	+	Silent	SNP	G	G	T	rs563494390		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:96152930G>T	ENST00000340722.7	+	1	177	c.126G>T	c.(124-126)tcG>tcT	p.S42S	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	42								p.S42S(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TCAATCCCTCGCGTAGGGAAT	0.667																																						uc001yez.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(124-126)TCG>TCT		T-cell leukemia/lymphoma 1B							73.0	66.0	68.0					14																	96152930		2203	4300	6503	SO:0001819	synonymous_variant	9623							g.chr14:96152930G>T	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.126G>T	14.37:g.96152930G>T						TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Silent_p.S42S	p.S42S	NM_004918	NP_004909	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	1	168	+		all_cancers(154;0.103)	42					A6NEK7|Q6IAR7|Q9UBQ4	Silent	SNP	ENST00000340722.7	37	c.126G>T	CCDS32151.1																																																																																				PASS	0.667	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			14	70	14	70	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96769593	96769593	+	Splice_Site	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:96769593C>A	ENST00000359933.4	-	33	5736		c.e33-1		ATG2B_ENST00000261834.5_Splice_Site	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.?(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAAACTTCACCTTAACGGGTA	0.418																																						uc001yfi.2																			1	Unknown(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.e33-1		ATG2 autophagy related 2 homolog B							78.0	77.0	77.0					14																	96769593		2203	4300	6503	SO:0001630	splice_region_variant	55102							g.chr14:96769593C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4843-1G>T	14.37:g.96769593C>A							p.V1615_splice	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	33	5208	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)						Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site	SNP	ENST00000359933.4	37	c.4843_splice	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302683	0.81136	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATG2B	95839346	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.228000	0.78079	2.873000	0.98535	0.563000	0.77884	.		PASS	0.418	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	Intron	14	122	14	122	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102472281	102472281	+	Silent	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:102472281T>C	ENST00000360184.4	+	27	5654	c.5490T>C	c.(5488-5490)atT>atC	p.I1830I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1830	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.I1830I(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAAGCAAGATTGACAACGCCA	0.388																																						uc001yks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(5488-5490)ATT>ATC		cytoplasmic dynein 1 heavy chain 1							162.0	154.0	157.0					14																	102472281		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102472281T>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5490T>C	14.37:g.102472281T>C							p.I1830I	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			27	5654	+			1830			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.5490T>C	CCDS9966.1																																																																																				PASS	0.388	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		53	297	53	297	---	---	---	---
MARK3	4140	broad.mit.edu	37	14	103941431	103941431	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:103941431A>G	ENST00000429436.2	+	13	1876	c.1366A>G	c.(1366-1368)Agt>Ggt	p.S456G	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.S479G|MARK3_ENST00000440884.3_Missense_Mutation_p.S377G|MARK3_ENST00000553942.1_Missense_Mutation_p.S456G|MARK3_ENST00000303622.9_Missense_Mutation_p.S456G|MARK3_ENST00000335102.5_Missense_Mutation_p.S479G|MARK3_ENST00000216288.7_Missense_Mutation_p.S440G	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	456				S -> T (in Ref. 5; AAA59991). {ECO:0000305}.		plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T440A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CCGGAAATCAAGTGGCAGTGC	0.483																																						uc001ymz.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|stomach(1)	4						c.(1366-1368)AGT>GGT		MAP/microtubule affinity-regulating kinase 3							68.0	68.0	68.0					14																	103941431		1954	4148	6102	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103941431A>G	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1366A>G	14.37:g.103941431A>G	ENSP00000411397:p.Ser456Gly					MARK3_uc001ymx.3_Missense_Mutation_p.S456G|MARK3_uc001ymw.3_Missense_Mutation_p.S456G|MARK3_uc001yna.3_Missense_Mutation_p.S440G|MARK3_uc001ymy.3_Missense_Mutation_p.S377G|MARK3_uc010awp.2_Missense_Mutation_p.S479G|MARK3_uc010tyb.1_Missense_Mutation_p.S251G|MARK3_uc010awq.2_5'UTR	p.S456G	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Epithelial(46;0.241)		13	2032	+		Melanoma(154;0.155)	456	S -> T (in Ref. 5; AAA59991).				O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.1366A>G	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	A	6.475	0.455864	0.12283	.	.	ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.78	-11.6	0.00059	.	0.459955	0.25540	N	0.029970	T	0.26882	0.0658	L	0.44542	1.39	0.26890	N	0.96735	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.13629	-1.0502	10	0.15952	T	0.53	.	19.2347	0.93853	0.3713:0.0:0.6287:0.0	.	463;479;440;456;377;456;456	P27448-7;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.;.;.;MARK3_HUMAN;.;.;.	G	479;105;377;479;456;456;440;456	ENSP00000335347:S479G;ENSP00000402104:S377G;ENSP00000408092:S479G;ENSP00000411397:S456G;ENSP00000303698:S456G;ENSP00000216288:S440G;ENSP00000450772:S456G	ENSP00000216288:S456G	S	+	1	0	MARK3	103011184	0.013000	0.17824	0.000000	0.03702	0.045000	0.14185	0.385000	0.20685	-2.569000	0.00469	-0.993000	0.02533	AGT		PASS	0.483	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		9	68	9	68	---	---	---	---
BRF1	2972	broad.mit.edu	37	14	105739131	105739131	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:105739131C>A	ENST00000546474.1	-	3	15325	c.366G>T	c.(364-366)ctG>ctT	p.L122L	BRF1_ENST00000440513.3_Silent_p.L7L|BRF1_ENST00000327359.3_Silent_p.L7L|BRF1_ENST00000379937.2_Silent_p.L95L|BRF1_ENST00000548421.1_Silent_p.L122L	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	122					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)	p.L122L(1)|p.L7L(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GGCCGCGGGTCAGGTGCCTGC	0.637																																						uc001yqp.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(364-366)CTG>CTT		transcription initiation factor IIIB isoform 1							82.0	70.0	74.0					14																	105739131		2203	4300	6503	SO:0001819	synonymous_variant	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105739131C>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.366G>T	14.37:g.105739131C>A						BRF1_uc010tyo.1_Silent_p.L7L|BRF1_uc010typ.1_Silent_p.L7L|BRF1_uc010axg.1_Silent_p.L95L|BRF1_uc001yqr.2_Silent_p.L122L	p.L122L	NM_001519	NP_001510	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	3	729	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	122			1.		B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Silent	SNP	ENST00000546474.1	37	c.366G>T	CCDS10001.1																																																																																				PASS	0.637	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		52	82	52	82	---	---	---	---
IGHA1	3493	broad.mit.edu	37	14	106173663	106173663	+	RNA	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr14:106173663C>T	ENST00000390547.2	-	0	903				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										CAGTCCTCGGCTGCCACGCGC	0.652																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							59.0	96.0	84.0					14																	106173663		2106	4247	6353			8755							g.chr14:106173663C>T	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173663C>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001ysc.2_5'Flank								3633		-									RNA	SNP	ENST00000390547.2	37	c.60235G>A																																																																																					PASS	0.652	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		10	77	10	77	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23812394	23812394	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr15:23812394G>T	ENST00000314520.3	+	1	1941	c.1465G>T	c.(1465-1467)Gag>Tag	p.E489*	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568945.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	489					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E489*(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ACCCTTCTCTGAGGACCAGTG	0.453																																						uc001ywh.3																			1	Substitution - Nonsense(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(1465-1467)GAG>TAG		makorin ring finger protein 3							149.0	141.0	144.0					15																	23812394		2203	4300	6503	SO:0001587	stop_gained	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812394G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1465G>T	15.37:g.23812394G>T	ENSP00000313881:p.Glu489*					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron	p.E489*	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1941	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	489						Nonsense_Mutation	SNP	ENST00000314520.3	37	c.1465G>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	36	5.955527	0.97145	.	.	ENSG00000179455	ENST00000314520	.	.	.	4.09	-0.159	0.13379	.	0.358986	0.23431	N	0.048259	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.643	0.08174	0.3435:0.1888:0.4677:0.0	.	.	.	.	X	489	.	ENSP00000313881:E489X	E	+	1	0	MKRN3	21363487	1.000000	0.71417	0.006000	0.13384	0.292000	0.27327	4.316000	0.59178	-0.008000	0.14320	0.563000	0.77884	GAG		PASS	0.453	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		48	229	48	229	---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25650618	25650618	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr15:25650618C>A	ENST00000397954.2	-	2	60	c.61G>T	c.(61-63)Gct>Tct	p.A21S	UBE3A_ENST00000438097.1_5'UTR|UBE3A_ENST00000428984.2_5'UTR|UBE3A_ENST00000566215.1_5'UTR|UBE3A_ENST00000232165.3_Missense_Mutation_p.A18S|SNHG14_ENST00000554726.1_RNA			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	21					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.A21S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATTCGGCTAGCTTCAATGTCG	0.348																																						uc001zaq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(61-63)GCT>TCT		ubiquitin protein ligase E3A isoform 2							138.0	129.0	132.0					15																	25650618		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25650618C>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.61G>T	15.37:g.25650618C>A	ENSP00000381045:p.Ala21Ser					UBE3A_uc001zar.2_5'UTR|UBE3A_uc001zas.2_Missense_Mutation_p.A18S|UBE3A_uc001zat.2_5'UTR|UBE3A_uc001zau.1_RNA	p.A21S	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	2	61	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	21					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.61G>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	8.525	0.869600	0.17322	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954	T;T	0.17213	2.29;2.29	5.97	4.1	0.47936	.	.	.	.	.	T	0.07683	0.0193	N	0.08118	0	0.80722	D	1	B;B	0.14438	0.01;0.001	B;B	0.18871	0.023;0.0	T	0.17018	-1.0383	9	0.08599	T	0.76	.	9.3366	0.38054	0.0:0.7743:0.0:0.2257	.	18;21	Q05086-3;Q05086	.;UBE3A_HUMAN	S	18;18;21	ENSP00000232165:A18S;ENSP00000381045:A21S	ENSP00000232165:A18S	A	-	1	0	UBE3A	23201711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.545000	0.36169	0.857000	0.35407	0.655000	0.94253	GCT		PASS	0.348	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		33	154	33	154	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	29993840	29993840	+	Missense_Mutation	SNP	C	C	A	rs369915729		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr15:29993840C>A	ENST00000346128.6	-	28	5680	c.5206G>T	c.(5206-5208)Gtt>Ttt	p.V1736F	TJP1_ENST00000545208.2_Missense_Mutation_p.V1656F|TJP1_ENST00000356107.6_Missense_Mutation_p.V1756F|TJP1_ENST00000400011.2_Missense_Mutation_p.V1680F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1736					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.V1736F(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTTGCTCCAACGAGATAATTT	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		18627	0.0		0.0	False		,,,				2504	0.001				Melanoma(77;681 1843 6309 6570)	uc001zcr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(5206-5208)GTT>TTT		tight junction protein 1 isoform a		C	PHE/VAL,PHE/VAL	0,3672		0,0,1836	107.0	100.0	102.0		5206,4966	5.7	1.0	15		102	2,8160		0,2,4079	no	missense,missense	TJP1	NM_003257.3,NM_175610.2	50,50	0,2,5915	AA,AC,CC		0.0245,0.0,0.0169	probably-damaging,probably-damaging	1736/1749,1656/1669	29993840	2,11832	1836	4081	5917	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:29993840C>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.5206G>T	15.37:g.29993840C>A	ENSP00000281537:p.Val1736Phe					TJP1_uc010azl.2_Missense_Mutation_p.V1744F|TJP1_uc001zcq.2_Missense_Mutation_p.V1680F|TJP1_uc001zcs.2_Missense_Mutation_p.V1656F	p.V1736F	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	28	5681	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1736					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.5206G>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717288	0.68844	0.0	2.45E-4	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.16457	2.34;3.02	5.66	5.66	0.87406	ZU5 (1);	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.998;0.984	T	0.34950	-0.9808	10	0.87932	D	0	.	19.7376	0.96214	0.0:1.0:0.0:0.0	.	1749;1656;1736;1680	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	F	1736;1680;1756;1656;1656	ENSP00000281537:V1736F;ENSP00000382890:V1680F	ENSP00000281537:V1736F	V	-	1	0	TJP1	27781132	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.057000	0.71119	2.657000	0.90304	0.563000	0.77884	GTT		PASS	0.348	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		24	91	24	91	---	---	---	---
ACTC1	70	broad.mit.edu	37	15	35085701	35085701	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr15:35085701G>T	ENST00000290378.4	-	3	854	c.199C>A	c.(199-201)Ctg>Atg	p.L67M	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	67					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.L67M(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTCAGGGTCAGGATGCCTCTC	0.498																																						uc001ziu.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(199-201)CTG>ATG		cardiac muscle alpha actin 1 proprotein							85.0	69.0	74.0					15																	35085701		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35085701G>T	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.199C>A	15.37:g.35085701G>T	ENSP00000290378:p.Leu67Met					uc001zit.1_Intron	p.L67M	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	3	442	-		all_lung(180;2.3e-08)	67					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.199C>A	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946224	0.73672	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94723	-3.5	5.49	5.49	0.81192	.	0.000000	0.42682	U	0.000676	D	0.98353	0.9453	M	0.92367	3.3	0.80722	D	1	P	0.37423	0.594	D	0.72982	0.979	D	0.98128	1.0429	10	0.87932	D	0	.	19.744	0.96245	0.0:0.0:1.0:0.0	.	67	P68032	ACTC_HUMAN	M	67	ENSP00000290378:L67M	ENSP00000290378:L67M	L	-	1	2	ACTC1	32872993	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.746000	0.94184	0.561000	0.74099	CTG		PASS	0.498	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		44	71	44	71	---	---	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40308761	40308761	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr15:40308761C>A	ENST00000263791.5	+	28	3861	c.3818C>A	c.(3817-3819)aCa>aAa	p.T1273K	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T1245K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1273	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.T1273K(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTTATGCCAACAATAAATTCA	0.428																																						uc001zkm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|skin(1)	4						c.(3817-3819)ACA>AAA		eukaryotic translation initiation factor 2 alpha							97.0	95.0	96.0					15																	40308761		1926	4159	6085	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40308761C>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3818C>A	15.37:g.40308761C>A	ENSP00000263791:p.Thr1273Lys					EIF2AK4_uc010bbj.1_Missense_Mutation_p.T974K|EIF2AK4_uc001zkn.1_Missense_Mutation_p.T373K|EIF2AK4_uc001zko.1_Intron|EIF2AK4_uc010bbk.1_RNA	p.T1273K	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	28	3868	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1273			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.3818C>A	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017511	0.35606	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.41758	0.99;0.99	5.52	3.65	0.41850	.	0.345964	0.32258	N	0.006346	T	0.17152	0.0412	N	0.04090	-0.28	0.21627	N	0.999614	B	0.28470	0.213	B	0.23716	0.048	T	0.17531	-1.0366	10	0.18276	T	0.48	-2.5817	7.0807	0.25229	0.0:0.6307:0.0:0.3693	.	1273	Q9P2K8	E2AK4_HUMAN	K	1273;1245	ENSP00000263791:T1273K;ENSP00000372174:T1245K	ENSP00000263791:T1273K	T	+	2	0	EIF2AK4	38096053	0.994000	0.37717	0.693000	0.30195	0.991000	0.79684	3.209000	0.51122	0.809000	0.34255	0.643000	0.83706	ACA		PASS	0.428	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			4	122	4	122	---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40462291	40462291	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr15:40462291A>T	ENST00000287598.6	+	3	403	c.208A>T	c.(208-210)Act>Tct	p.T70S	BUB1B_ENST00000412359.3_Missense_Mutation_p.T70S|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	70	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T70S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCGATTTTACACTGGAAATGA	0.353			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|kidney(1)	4						c.(208-210)ACT>TCT		budding uninhibited by benzimidazoles 1 beta							127.0	126.0	126.0					15																	40462291		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40462291A>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.208A>T	15.37:g.40462291A>T	ENSP00000287598:p.Thr70Ser						p.T70S	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	3	420	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	70			BUB1 N-terminal.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.208A>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	A	2.875	-0.233166	0.05983	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.62232	0.04;0.04	5.14	-1.58	0.08479	Mad3/BUB1 homology region 1 (3);	0.577998	0.18818	N	0.130328	T	0.27027	0.0662	N	0.03224	-0.385	0.20196	N	0.999927	B	0.02656	0.0	B	0.01281	0.0	T	0.21724	-1.0237	10	0.09590	T	0.72	-2.501	4.9346	0.13934	0.2984:0.0:0.3339:0.3677	.	70	O60566	BUB1B_HUMAN	S	70	ENSP00000287598:T70S;ENSP00000398470:T70S	ENSP00000287598:T70S	T	+	1	0	BUB1B	38249583	0.818000	0.29161	0.978000	0.43139	0.164000	0.22412	0.360000	0.20250	-0.245000	0.09625	0.454000	0.30748	ACT		PASS	0.353	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			45	104	45	104	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50264859	50264859	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr15:50264859T>A	ENST00000284509.6	-	13	1304	c.1163A>T	c.(1162-1164)tAc>tTc	p.Y388F	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Y388F	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	388						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Y388F(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGAGAAAATGTACTCAATCTG	0.413																																						uc001zxu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1162-1164)TAC>TTC		ATPase class I type 8B member 4							113.0	96.0	102.0					15																	50264859		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50264859T>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1163A>T	15.37:g.50264859T>A	ENSP00000284509:p.Tyr388Phe					ATP8B4_uc010ber.2_Missense_Mutation_p.Y261F|ATP8B4_uc010ufd.1_Missense_Mutation_p.Y261F|ATP8B4_uc010ufe.1_RNA	p.Y388F	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	13	1305	-		all_lung(180;0.00183)	388			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1163A>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.376501	0.42105	.	.	ENSG00000104043	ENST00000284509	T	0.65732	-0.17	5.08	5.08	0.68730	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.067723	0.64402	D	0.000010	T	0.66538	0.2799	M	0.85197	2.74	0.43021	D	0.99457	P	0.35959	0.53	B	0.36418	0.224	T	0.72134	-0.4382	10	0.56958	D	0.05	.	12.8001	0.57580	0.0:0.0:0.0:1.0	.	388	Q8TF62	AT8B4_HUMAN	F	388	ENSP00000284509:Y388F	ENSP00000284509:Y388F	Y	-	2	0	ATP8B4	48052151	0.999000	0.42202	0.718000	0.30602	0.809000	0.45718	3.099000	0.50267	1.901000	0.55032	0.528000	0.53228	TAC		PASS	0.413	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		24	71	24	71	---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53049925	53049925	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr15:53049925G>T	ENST00000305901.5	-	2	1352	c.1225C>A	c.(1225-1227)Cgt>Agt	p.R409S	ONECUT1_ENST00000560699.2_Missense_Mutation_p.S49R|ONECUT1_ENST00000561401.2_5'UTR	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	409					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R409S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TTGGATGGACGCTTATTTTCC	0.478																																						uc002aci.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1225-1227)CGT>AGT		one cut homeobox 1							210.0	198.0	202.0					15																	53049925		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53049925G>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1225C>A	15.37:g.53049925G>T	ENSP00000302630:p.Arg409Ser						p.R409S	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	2	1353	-			409			Homeobox.		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.1225C>A	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253723	0.39797	.	.	ENSG00000169856	ENST00000305901	D	0.83591	-1.74	6.16	6.16	0.99307	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92492	0.7616	M	0.85197	2.74	0.40671	D	0.982216	D	0.62365	0.991	D	0.77557	0.99	D	0.92779	0.6239	10	0.87932	D	0	-8.2208	19.848	0.96722	0.0:0.0:1.0:0.0	.	409	Q9UBC0	HNF6_HUMAN	S	409	ENSP00000302630:R409S	ENSP00000302630:R409S	R	-	1	0	ONECUT1	50837217	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	CGT		PASS	0.478	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			79	188	79	188	---	---	---	---
ISLR	3671	broad.mit.edu	37	15	74468267	74468267	+	Silent	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr15:74468267G>A	ENST00000249842.3	+	2	1425	c.1068G>A	c.(1066-1068)ggG>ggA	p.G356G	ISLR_ENST00000395118.1_Silent_p.G356G|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	356					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)		p.G356G(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ACACACTGGGGCGCAGGTTCC	0.617																																						uc002axg.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1066-1068)GGG>GGA		immunoglobulin superfamily containing							100.0	82.0	88.0					15																	74468267		2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74468267G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.1068G>A	15.37:g.74468267G>A						ISLR_uc002axh.1_Silent_p.G356G	p.G356G	NM_005545	NP_005536	O14498	ISLR_HUMAN			2	1350	+			356						Silent	SNP	ENST00000249842.3	37	c.1068G>A	CCDS10260.1																																																																																				PASS	0.617	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		3	36	3	36	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77906817	77906817	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr15:77906817G>T	ENST00000355300.6	-	2	1606	c.1432C>A	c.(1432-1434)Cct>Act	p.P478T	LINGO1_ENST00000561030.1_Missense_Mutation_p.P472T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	478	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P472T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GTGCCATCAGGGAAGACTGTG	0.677																																						uc002bct.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1432-1434)CCT>ACT		leucine-rich repeat neuronal 6A							21.0	23.0	23.0					15																	77906817		2140	4224	6364	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906817G>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1432C>A	15.37:g.77906817G>T	ENSP00000347451:p.Pro478Thr					LINGO1_uc002bcu.1_Missense_Mutation_p.P472T	p.P478T	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	1484	-			478			Extracellular (Potential).|Ig-like C2-type.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1432C>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669161	0.29604	.	.	ENSG00000169783	ENST00000355300	T	0.66099	-0.19	4.79	4.79	0.61399	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	L	0.28504	0.86	0.80722	D	1	B	0.16396	0.017	B	0.19946	0.027	T	0.45498	-0.9257	10	0.21014	T	0.42	.	17.8305	0.88680	0.0:0.0:1.0:0.0	.	478	Q96FE5	LIGO1_HUMAN	T	478	ENSP00000347451:P478T	ENSP00000347451:P478T	P	-	1	0	LINGO1	75693872	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.192000	0.70111	0.462000	0.41574	CCT		PASS	0.677	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		8	21	8	21	---	---	---	---
ZNF592	9640	broad.mit.edu	37	15	85326964	85326964	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr15:85326964G>T	ENST00000560079.2	+	4	1346	c.1058G>T	c.(1057-1059)tGc>tTc	p.C353F	ZNF592_ENST00000299927.3_Missense_Mutation_p.C353F	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	353					cell death (GO:0008219)|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.C353F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGTAGCATCTGCAGTGACAGC	0.532																																						uc002bld.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1057-1059)TGC>TTC		zinc finger protein 592							68.0	74.0	72.0					15																	85326964		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326964G>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1058G>T	15.37:g.85326964G>T	ENSP00000452877:p.Cys353Phe					ZNF592_uc010upb.1_RNA	p.C353F	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	1394	+			353					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1058G>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061204	0.55432	.	.	ENSG00000166716	ENST00000299927	T	0.00627	6.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.02848	0.0085	L	0.54323	1.7	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.57619	-0.7780	10	0.72032	D	0.01	-14.1867	17.2267	0.86972	0.0:0.0:1.0:0.0	.	353	Q92610	ZN592_HUMAN	F	353	ENSP00000299927:C353F	ENSP00000299927:C353F	C	+	2	0	ZNF592	83127968	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.698000	0.84413	2.663000	0.90544	0.655000	0.94253	TGC		PASS	0.532	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		50	100	50	100	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15729647	15729647	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr16:15729647C>A	ENST00000396368.3	-	3	903	c.697G>T	c.(697-699)Gct>Tct	p.A233S	KIAA0430_ENST00000344181.3_Missense_Mutation_p.A55S|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A233S|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A233S|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A233S|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A233S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	233					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A233S(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGCCCTGGAGCCCCGCTTGTG	0.512																																						uc002ddr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)GCT>TCT		limkain b1							66.0	69.0	68.0					16																	15729647		1968	4146	6114	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729647C>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.697G>T	16.37:g.15729647C>A	ENSP00000379654:p.Ala233Ser					KIAA0430_uc002ddq.2_Missense_Mutation_p.A232S|KIAA0430_uc010uzv.1_Missense_Mutation_p.A232S|KIAA0430_uc010uzw.1_Missense_Mutation_p.A232S|KIAA0430_uc010uzx.1_Missense_Mutation_p.A232S	p.A233S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			3	890	-			232					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.697G>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677480	0.68042	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.91	3.95	0.45737	.	0.169319	0.42053	N	0.000780	T	0.39860	0.1094	L	0.51422	1.61	0.23089	N	0.998314	B;D;D;D;P	0.53619	0.002;0.961;0.961;0.961;0.935	B;P;P;P;P	0.52066	0.008;0.689;0.689;0.689;0.492	T	0.24368	-1.0162	9	0.59425	D	0.04	-6.2626	6.6675	0.23050	0.1347:0.668:0.1297:0.0676	.	232;232;233;232;232	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	S	233;233;232;55;233;233;233	.	ENSP00000315718:A232S	A	-	1	0	KIAA0430	15637148	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.816000	0.38992	0.825000	0.34637	-0.182000	0.12963	GCT		PASS	0.512	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		36	62	36	62	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20996449	20996449	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr16:20996449C>T	ENST00000261383.3	-	48	7614	c.7615G>A	c.(7615-7617)Gag>Aag	p.E2539K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2539	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E2539K(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAACCTTCTCTCCTTGGGTC	0.463																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7615-7617)GAG>AAG		dynein, axonemal, heavy chain 3							76.0	63.0	67.0					16																	20996449		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20996449C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7615G>A	16.37:g.20996449C>T	ENSP00000261383:p.Glu2539Lys					DNAH3_uc010vbd.1_5'Flank	p.E2539K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7615	-			2539			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7615G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	0.444	-0.897032	0.02472	.	.	ENSG00000158486	ENST00000261383	T	0.21361	2.01	5.13	1.51	0.23008	Dynein heavy chain, P-loop containing D4 domain (1);	0.548786	0.18517	N	0.138874	T	0.03305	0.0096	N	0.00251	-1.775	0.34811	D	0.73774	B	0.14012	0.009	B	0.12837	0.008	T	0.38001	-0.9681	10	0.02654	T	1	.	4.6617	0.12646	0.0:0.3971:0.3803:0.2226	.	2539	Q8TD57	DYH3_HUMAN	K	2539	ENSP00000261383:E2539K	ENSP00000261383:E2539K	E	-	1	0	DNAH3	20903950	0.849000	0.29639	0.949000	0.38748	0.533000	0.34776	0.611000	0.24268	0.491000	0.27793	0.655000	0.94253	GAG		PASS	0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		23	59	23	59	---	---	---	---
AQP8	343	broad.mit.edu	37	16	25238398	25238398	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr16:25238398G>T	ENST00000219660.5	+	5	737	c.612G>T	c.(610-612)gtG>gtT	p.V204V	AQP8_ENST00000566125.1_Silent_p.V198V	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	204					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.V204V(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GGGGCCCTGTGTCTGGAGGCT	0.612																																						uc002doc.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3						c.(610-612)GTG>GTT		aquaporin 8							113.0	102.0	105.0					16																	25238398		2197	4300	6497	SO:0001819	synonymous_variant	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25238398G>T	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.612G>T	16.37:g.25238398G>T							p.V204V	NM_001169	NP_001160	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	5	694	+			204			Helical; (Potential).		Q8IUU3|Q9UIA4	Silent	SNP	ENST00000219660.5	37	c.612G>T	CCDS10626.1																																																																																				PASS	0.612	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		40	77	40	77	---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27733015	27733015	+	Splice_Site	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr16:27733015G>C	ENST00000261588.4	+	14	1761	c.1742G>C	c.(1741-1743)gGc>gCc	p.G581A	CTD-2049O4.1_ENST00000564893.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA|Y_RNA_ENST00000364501.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	581						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G581A(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACAGCTGATGGCGTAAGTAAC	0.493																																						uc002dow.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(1741-1743)GGC>GCC		hypothetical protein LOC23247							65.0	59.0	61.0					16																	27733015		2197	4300	6497	SO:0001630	splice_region_variant	23247							g.chr16:27733015G>C	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1743+1G>C	16.37:g.27733015G>C						KIAA0556_uc002dox.1_Missense_Mutation_p.G489A	p.G581A	NM_015202	NP_056017	O60303	K0556_HUMAN			14	1766	+			581					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.1742G>C	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	9.547	1.115037	0.20795	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.47869	0.83	5.49	2.41	0.29592	.	0.343976	0.32884	N	0.005530	T	0.41003	0.1140	L	0.41236	1.265	0.09310	N	1	P;P	0.52842	0.956;0.705	P;B	0.50791	0.65;0.359	T	0.23619	-1.0183	10	0.13108	T	0.6	-3.6853	8.0989	0.30846	0.2638:0.0:0.7362:0.0	.	489;581	Q8N803;O60303	.;K0556_HUMAN	A	581;488	ENSP00000261588:G581A	ENSP00000261588:G581A	G	+	2	0	KIAA0556	27640516	0.795000	0.28851	0.055000	0.19348	0.225000	0.24961	1.453000	0.35167	0.676000	0.31285	0.655000	0.94253	GGC		PASS	0.493	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	Missense_Mutation	21	55	21	55	---	---	---	---
GSG1L	146395	broad.mit.edu	37	16	27802692	27802692	+	Nonstop_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr16:27802692C>A	ENST00000447459.2	-	7	1079	c.995G>T	c.(994-996)tGa>tTa	p.*332L	GSG1L_ENST00000395724.3_Nonstop_Mutation_p.*281L|GSG1L_ENST00000569166.1_Nonstop_Mutation_p.*195L|GSG1L_ENST00000380897.3_Nonstop_Mutation_p.*177L|GSG1L_ENST00000380898.2_Nonstop_Mutation_p.*195L	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	0					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.*177L(1)|p.*332L(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGGTCTTGGTCACACCCAGTG	0.662																																						uc002doz.2																			2	Nonstop extension(2)		lung(2)	ovary(1)	1						c.(994-996)TGA>TTA		GSG1-like isoform 1							68.0	60.0	63.0					16																	27802692		2197	4300	6497	SO:0001578	stop_lost	146395					integral to membrane		g.chr16:27802692C>A	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.995G>T	16.37:g.27802692C>A						GSG1L_uc010bya.1_Nonstop_Mutation_p.*281L|GSG1L_uc010bxz.1_Nonstop_Mutation_p.*195L|GSG1L_uc002doy.2_Nonstop_Mutation_p.*177L	p.*332L	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN			7	1080	-			332					Q7Z6F8|Q8TB81	Nonstop_Mutation	SNP	ENST00000447459.2	37	c.995G>T	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402537	0.62288	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	.	.	.	2.99	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0641	0.19854	0.0:0.8575:0.0:0.1425	.	.	.	.	L	332;281;195;177	.	.	X	-	2	2	GSG1L	27710193	0.998000	0.40836	0.946000	0.38457	0.832000	0.47134	1.586000	0.36611	0.847000	0.35167	0.505000	0.49811	TGA		PASS	0.662	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		13	46	13	46	---	---	---	---
SPNS1	83985	broad.mit.edu	37	16	28986619	28986619	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr16:28986619C>T	ENST00000311008.11	+	1	524	c.147C>T	c.(145-147)cgC>cgT	p.R49R	SPNS1_ENST00000323081.8_5'UTR|RP11-264B17.4_ENST00000567209.1_RNA|SPNS1_ENST00000352260.7_Silent_p.R49R|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Silent_p.R49R|SPNS1_ENST00000565975.1_Silent_p.R94R	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	49					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)		p.R49R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGCTGCAGCGCATCACCGGCC	0.677																																						uc010vdi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)CGC>CGT		spinster homolog 1 isoform 1							21.0	25.0	24.0					16																	28986619		2196	4299	6495	SO:0001819	synonymous_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28986619C>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.147C>T	16.37:g.28986619C>T						uc010vct.1_Intron|SPNS1_uc002dry.2_Silent_p.R49R|SPNS1_uc002drx.2_5'UTR|SPNS1_uc002dsa.2_Silent_p.R49R|SPNS1_uc002drz.2_Silent_p.R49R|SPNS1_uc010byp.2_Silent_p.R49R|SPNS1_uc010byq.1_5'UTR	p.R49R	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			2	287	+			49					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	c.147C>T	CCDS10646.1																																																																																				PASS	0.677	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		5	10	5	10	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31419090	31419090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr16:31419090G>T	ENST00000389202.2	+	9	911	c.862G>T	c.(862-864)Gga>Tga	p.G288*		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	288	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.G288*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGCAGGTGGGACACGCTTT	0.622																																						uc002ebv.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(862-864)GGA>TGA		integrin, alpha D precursor							45.0	39.0	41.0					16																	31419090		2197	4300	6497	SO:0001587	stop_gained	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31419090G>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.862G>T	16.37:g.31419090G>T	ENSP00000373854:p.Gly288*					ITGAD_uc010vfl.1_Missense_Mutation_p.G320V|ITGAD_uc010cap.1_Nonsense_Mutation_p.G288*|ITGAD_uc002ebw.1_Missense_Mutation_p.G131V	p.G288*	NM_005353	NP_005344	Q13349	ITAD_HUMAN			9	911	+			288			Extracellular (Potential).|VWFA.		Q15575|Q15576	Nonsense_Mutation	SNP	ENST00000389202.2	37	c.862G>T	CCDS32438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	23.3|23.3	4.400936|4.400936	0.83120|0.83120	.|.	.|.	ENSG00000156886|ENSG00000156886	ENST00000316569|ENST00000444228;ENST00000389202	.|.	.|.	.|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|.	.|.	.|.	.|.	T|.	0.74839|.	0.3769|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	D|.	0.69078|.	0.997|.	D|.	0.71656|.	0.974|.	T|.	0.80986|.	-0.1137|.	6|.	0.87932|0.72032	D|D	0|0.01	.|.	15.7993|15.7993	0.78439|0.78439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	320|.	B7Z6V7|.	.|.	V|X	184|304;288	.|.	ENSP00000323325:G184V|ENSP00000373854:G288X	G|G	+|+	2|1	0|0	ITGAD|ITGAD	31326591|31326591	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.506000|0.506000	0.33950|0.33950	6.593000|6.593000	0.74100|0.74100	2.298000|2.298000	0.77334|0.77334	0.586000|0.586000	0.80456|0.80456	GGG|GGA		PASS	0.622	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		25	44	25	44	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53326832	53326832	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr16:53326832A>T	ENST00000398510.3	+	28	5465	c.5378A>T	c.(5377-5379)cAg>cTg	p.Q1793L	CHD9_ENST00000447540.1_Missense_Mutation_p.Q1793L|CHD9_ENST00000566029.1_Missense_Mutation_p.Q1793L|CHD9_ENST00000564845.1_Missense_Mutation_p.Q1793L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1793					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q1793L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACTGCATACCAGCGTACTAAT	0.413																																						uc002ehb.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(5377-5379)CAG>CTG		chromodomain helicase DNA binding protein 9							119.0	113.0	115.0					16																	53326832		1910	4127	6037	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53326832A>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5378A>T	16.37:g.53326832A>T	ENSP00000381522:p.Gln1793Leu					CHD9_uc002egy.2_Missense_Mutation_p.Q1793L|CHD9_uc002ehc.2_Missense_Mutation_p.Q1793L|CHD9_uc002ehf.2_Missense_Mutation_p.Q907L|CHD9_uc010cbw.2_Missense_Mutation_p.Q161L	p.Q1793L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			28	5542	+		all_cancers(37;0.0212)	1793					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5378A>T		.	.	.	.	.	.	.	.	.	.	A	28.4	4.917426	0.92249	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.90444	-2.67;-2.67	5.35	5.35	0.76521	.	0.000000	0.53938	D	0.000059	D	0.95921	0.8672	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.76494	0.981;0.999;0.967;0.981	D;D;D;D	0.91635	0.966;0.999;0.932;0.969	D	0.96709	0.9524	10	0.87932	D	0	-8.0279	15.3271	0.74172	1.0:0.0:0.0:0.0	.	161;1793;1793;1793	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	L	1793;1793;161	ENSP00000396345:Q1793L;ENSP00000381522:Q1793L	ENSP00000381522:Q1793L	Q	+	2	0	CHD9	51884333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.817000	0.91985	2.023000	0.59567	0.482000	0.46254	CAG		PASS	0.413	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		37	89	37	89	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61761073	61761073	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr16:61761073C>T	ENST00000577390.1	-	9	2415	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	CDH8_ENST00000584337.1_Silent_p.L487L|CDH8_ENST00000299345.6_Silent_p.L487L|CDH8_ENST00000577730.1_Silent_p.L487L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	487	Cadherin 4. {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.L487L(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)		CATTGACATCCAGCACTTTAA	0.403																																						uc002eog.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1459-1461)CTG>CTA		cadherin 8, type 2 preproprotein							193.0	175.0	181.0					16																	61761073		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.chr16:61761073C>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.1461G>A	16.37:g.61761073C>T						CDH8_uc002eoh.2_Silent_p.L256L	p.L487L	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)	9	1713	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	487			Extracellular (Potential).|Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1461G>A	CCDS10802.1																																																																																				PASS	0.403	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		77	173	77	173	---	---	---	---
SLC38A8	146167	broad.mit.edu	37	16	84070480	84070480	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr16:84070480C>A	ENST00000299709.3	-	2	214	c.215G>T	c.(214-216)gGg>gTg	p.G72V		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	72					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.G72V(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GATGACCAGCCCGCTGATCAG	0.662																																						uc002fhg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)GGG>GTG		solute carrier family 38, member 8							58.0	47.0	51.0					16																	84070480		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84070480C>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.215G>T	16.37:g.84070480C>A	ENSP00000299709:p.Gly72Val						p.G72V	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			2	215	-			72			Helical; (Potential).			Missense_Mutation	SNP	ENST00000299709.3	37	c.215G>T	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034377	0.75617	.	.	ENSG00000166558	ENST00000299709	T	0.02158	4.42	4.44	4.44	0.53790	.	0.189948	0.46442	D	0.000293	T	0.13457	0.0326	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.02109	-1.1212	10	0.41790	T	0.15	.	16.1337	0.81465	0.0:1.0:0.0:0.0	.	72	A6NNN8	S38A8_HUMAN	V	72	ENSP00000299709:G72V	ENSP00000299709:G72V	G	-	2	0	SLC38A8	82627981	1.000000	0.71417	0.825000	0.32803	0.831000	0.47069	7.246000	0.78247	2.048000	0.60808	0.543000	0.68304	GGG		PASS	0.662	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		10	15	10	15	---	---	---	---
SPIRE2	84501	broad.mit.edu	37	16	89924792	89924792	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr16:89924792C>T	ENST00000378247.3	+	8	1192	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	SPIRE2_ENST00000393062.2_Silent_p.A383A	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	383					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.A383A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCGGAGATGCCAAGTCCACCT	0.672																																						uc002foz.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1147-1149)GCC>GCT		spire homolog 2							89.0	94.0	92.0					16																	89924792		2198	4300	6498	SO:0001819	synonymous_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89924792C>T	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1149C>T	16.37:g.89924792C>T						SPIRE2_uc010civ.1_Silent_p.A298A|SPIRE2_uc010ciw.1_Silent_p.A383A|SPIRE2_uc002fpa.1_Silent_p.A335A|SPIRE2_uc010cix.1_Silent_p.A250A	p.A383A	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	8	1201	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	383					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	37	c.1149C>T	CCDS32516.1																																																																																				PASS	0.672	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		72	152	72	152	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10204986	10204986	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr17:10204986C>A	ENST00000418404.3	-	39	5865	c.5702G>T	c.(5701-5703)cGg>cTg	p.R1901L	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1901L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1901					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1901L(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGACTCTCCGGCATCTGGA	0.627																																						uc002gmk.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(5701-5703)CGG>CTG		myosin, heavy polypeptide 13, skeletal muscle							53.0	57.0	56.0					17																	10204986		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10204986C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5702G>T	17.37:g.10204986C>A	ENSP00000404570:p.Arg1901Leu						p.R1901L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			40	5792	-			1901			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5702G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932507	0.92458	.	.	ENSG00000006788	ENST00000252172	D	0.85171	-1.95	3.76	3.76	0.43208	Myosin tail (1);	.	.	.	.	D	0.95242	0.8457	H	0.98256	4.185	0.42515	D	0.992984	D	0.89917	1.0	D	0.97110	1.0	D	0.97499	1.0059	9	0.87932	D	0	.	16.1271	0.81402	0.0:1.0:0.0:0.0	.	1901	Q9UKX3	MYH13_HUMAN	L	1901	ENSP00000252172:R1901L	ENSP00000252172:R1901L	R	-	2	0	MYH13	10145711	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.564000	0.82326	2.097000	0.63578	0.484000	0.47621	CGG		PASS	0.627	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		49	74	49	74	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15968834	15968835	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr17:15968834_15968835TC>CA	ENST00000268712.3	-	33	5172_5173	c.4915_4916GA>TG	c.(4915-4917)GAg>TGg	p.E1639W	NCOR1_ENST00000395857.3_Missense_Mutation_p.E223W|NCOR1_ENST00000395851.1_Missense_Mutation_p.E1655W	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1639	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.E1639*(1)|p.E1639G(1)|p.E1639W(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGTGGCTGCTCTCTTGGGGAG	0.436																																						uc002gpo.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(4915-4917)GAG>GGG|c.(4915-4917)GAG>TAG		nuclear receptor co-repressor 1																																				SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15968834T>C|g.chr17:15968835C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4915_4916delinsCA	17.37:g.15968834_15968835delinsCA	ENSP00000268712:p.Glu1639Trp					NCOR1_uc002gpn.2_Missense_Mutation_p.E1655G|NCOR1_uc002gpm.2_Missense_Mutation_p.E159G|NCOR1_uc010vwb.1_Missense_Mutation_p.E223G|NCOR1_uc010coy.2_Missense_Mutation_p.E547G|NCOR1_uc010vwc.1_Missense_Mutation_p.E449G|NCOR1_uc002gpn.2_Nonsense_Mutation_p.E1655*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.E159*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.E223*|NCOR1_uc010coy.2_Nonsense_Mutation_p.E547*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.E449*	p.E1639G|p.E1639*	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	33	5156|5155	-			1639			Interaction with ETO.|Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000268712.3	37	c.4916A>G|c.4915G>T	CCDS11175.1																																																																																				PASS	0.436	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		14	66	14	66	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21319036	21319036	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr17:21319036C>A	ENST00000583088.1	+	3	1277	c.382C>A	c.(382-384)Cac>Aac	p.H128N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.H128N	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	128					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.H128N(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GATGCAGGTGCACGGCTTCAT	0.657										Prostate(3;0.18)																												uc002gyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(382-384)CAC>AAC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						52.0	46.0	48.0					17																	21319036		2203	4299	6502	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319036C>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.382C>A	17.37:g.21319036C>A	ENSP00000463778:p.His128Asn	Prostate(3;0.18)					p.H128N	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1087	+			128			Extracellular (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.382C>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	2.619	-0.288994	0.05605	.	.	ENSG00000184185	ENST00000331718	D	0.95756	-3.8	5.23	4.2	0.49525	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.102602	0.64402	D	0.000006	T	0.79563	0.4467	N	0.00453	-1.485	0.35263	D	0.779783	B	0.02656	0.0	B	0.01281	0.0	T	0.78904	-0.2020	10	0.02654	T	1	.	11.2407	0.48968	0.3684:0.6316:0.0:0.0	.	128	Q14500	IRK12_HUMAN	N	128	ENSP00000328150:H128N	ENSP00000328150:H128N	H	+	1	0	KCNJ12	21259629	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	5.396000	0.66297	2.448000	0.82819	0.591000	0.81541	CAC		PASS	0.657	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	29	4	29	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32956181	32956181	+	Silent	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr17:32956181G>C	ENST00000321639.5	+	5	1354	c.1026G>C	c.(1024-1026)acG>acC	p.T342T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	342						integral component of membrane (GO:0016021)		p.T342T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTGAGCTGACGGTCATTCAGC	0.602																																						uc002hif.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1024-1026)ACG>ACC		transmembrane protein 132E precursor							66.0	54.0	58.0					17																	32956181		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32956181G>C	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1026G>C	17.37:g.32956181G>C							p.T342T	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1354	+			342			Extracellular (Potential).		Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.1026G>C	CCDS11283.1																																																																																				PASS	0.602	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		8	34	8	34	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32959860	32959860	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr17:32959860C>T	ENST00000321639.5	+	7	1678	c.1350C>T	c.(1348-1350)caC>caT	p.H450H		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	450						integral component of membrane (GO:0016021)		p.H450H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGCCCTTGCACATTGAGCTCT	0.607																																						uc002hif.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1348-1350)CAC>CAT		transmembrane protein 132E precursor							164.0	150.0	154.0					17																	32959860		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32959860C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1350C>T	17.37:g.32959860C>T							p.H450H	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	7	1678	+			450			Extracellular (Potential).		Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.1350C>T	CCDS11283.1																																																																																				PASS	0.607	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		68	217	68	217	---	---	---	---
SLFN5	162394	broad.mit.edu	37	17	33586457	33586457	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr17:33586457A>T	ENST00000299977.4	+	2	896	c.748A>T	c.(748-750)Agc>Tgc	p.S250C	SLFN5_ENST00000592325.1_Missense_Mutation_p.S250C|SLFN5_ENST00000542451.1_Missense_Mutation_p.S250C	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	250					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.S250C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGACCTTACGAGCTTGAGGGC	0.388																																						uc002hjf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(748-750)AGC>TGC		schlafen family member 5							130.0	133.0	132.0					17																	33586457		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33586457A>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.748A>T	17.37:g.33586457A>T	ENSP00000299977:p.Ser250Cys					SLFN5_uc002hje.2_Missense_Mutation_p.S250C|SLFN5_uc010wcg.1_Missense_Mutation_p.S250C	p.S250C	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	865	+		Ovarian(249;0.17)	250					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.748A>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.171160	0.38315	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.31247	1.5;1.5	3.68	-1.79	0.07932	.	2.564390	0.01768	N	0.031034	T	0.22627	0.0546	L	0.38175	1.15	0.09310	N	1	P;P;B	0.47604	0.898;0.744;0.022	B;B;B	0.42282	0.382;0.382;0.03	T	0.15983	-1.0418	10	0.49607	T	0.09	.	0.3394	0.00331	0.3896:0.1927:0.2301:0.1876	.	250;250;250	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	C	250	ENSP00000299977:S250C;ENSP00000440537:S250C	ENSP00000299977:S250C	S	+	1	0	SLFN5	30610570	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.299000	0.00521	-0.154000	0.11118	0.533000	0.62120	AGC		PASS	0.388	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		63	175	63	175	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901108	51901108	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr17:51901108C>A	ENST00000268919.4	+	1	870	c.714C>A	c.(712-714)gtC>gtA	p.V238V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	238	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V238V(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCATCACCGTCCCCTCGGACA	0.557																																						uc002iua.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)	8						c.(712-714)GTC>GTA		kinesin family member 2B							113.0	94.0	100.0					17																	51901108		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901108C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.714C>A	17.37:g.51901108C>A						uc010wna.1_Intron	p.V238V	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	870	+			238			Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.714C>A	CCDS32685.1																																																																																				PASS	0.557	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		19	56	19	56	---	---	---	---
CCDC137	339230	broad.mit.edu	37	17	79639558	79639558	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr17:79639558C>G	ENST00000329214.8	+	6	1097	c.694C>G	c.(694-696)Ctg>Gtg	p.L232V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	232							poly(A) RNA binding (GO:0044822)	p.L232V(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCGGATGCTTCTGAGCCCCGG	0.652																																						uc002kbc.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(694-696)CTG>GTG		coiled-coil domain containing 137							13.0	15.0	15.0					17																	79639558		2061	4171	6232	SO:0001583	missense	339230							g.chr17:79639558C>G	BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.694C>G	17.37:g.79639558C>G	ENSP00000329360:p.Leu232Val					CCDC137_uc002kbd.2_RNA	p.L232V	NM_199287	NP_954981	Q6PK04	CC137_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		6	730	+	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		232						Missense_Mutation	SNP	ENST00000329214.8	37	c.694C>G	CCDS42400.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837212	0.32513	.	.	ENSG00000185298	ENST00000329214	D	0.90261	-2.64	5.03	-7.25	0.01470	.	0.284658	0.29537	N	0.011874	D	0.88429	0.6434	M	0.81112	2.525	0.20403	N	0.999905	P	0.46142	0.873	B	0.43225	0.412	D	0.84397	0.0558	10	0.66056	D	0.02	0.0649	12.8853	0.58040	0.0:0.6584:0.1062:0.2354	.	232	Q6PK04	CC137_HUMAN	V	232	ENSP00000329360:L232V	ENSP00000329360:L232V	L	+	1	2	CCDC137	77249963	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.489000	0.02306	-1.330000	0.02255	-1.102000	0.02115	CTG		PASS	0.652	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1			3	6	3	6	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3582091	3582092	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr18:3582091_3582092GG>TA	ENST00000315677.3	-	8	2341_2342	c.1746_1747CC>TA	c.(1744-1749)agCCag>agTAag	p.Q583K	DLGAP1_ENST00000400149.3_Missense_Mutation_p.Q273K|DLGAP1_ENST00000581527.1_Missense_Mutation_p.Q583K|DLGAP1_ENST00000400150.3_Missense_Mutation_p.Q299K|DLGAP1_ENST00000515196.2_Missense_Mutation_p.Q583K|DLGAP1_ENST00000400155.1_Missense_Mutation_p.Q289K|DLGAP1_ENST00000400145.2_Missense_Mutation_p.Q281K|DLGAP1_ENST00000539435.1_Missense_Mutation_p.Q291K|DLGAP1_ENST00000534970.1_Missense_Mutation_p.Q267K|DLGAP1_ENST00000584874.1_Missense_Mutation_p.Q583K|DLGAP1_ENST00000400147.2_Missense_Mutation_p.Q281K|DLGAP1_ENST00000581699.1_Missense_Mutation_p.Q289K	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	583					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.Q583K(2)|p.Q291K(2)|p.S582S(1)|p.S290S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGTCCAGACTGGCTGATAATAT	0.559																																						uc002kmf.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(2)|pancreas(1)|skin(1)	4						c.(1747-1749)CAG>AAG|c.(1744-1746)AGC>AGT		discs large homolog-associated protein 1 isoform																																				SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3582091G>T|g.chr18:3582092G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1746_1747delinsTA	18.37:g.3582091_3582092delinsTA	ENSP00000316377:p.Gln583Lys					DLGAP1_uc010wyz.1_Missense_Mutation_p.Q583K|DLGAP1_uc002kme.1_Missense_Mutation_p.Q281K|DLGAP1_uc010dkn.2_Missense_Mutation_p.Q291K|DLGAP1_uc010wyw.1_Missense_Mutation_p.Q289K|DLGAP1_uc010wyx.1_Missense_Mutation_p.Q305K|DLGAP1_uc010wyy.1_Missense_Mutation_p.Q267K|DLGAP1_uc002kmg.2_Missense_Mutation_p.Q281K|DLGAP1_uc010wyz.1_Silent_p.S582S|DLGAP1_uc002kme.1_Silent_p.S280S|DLGAP1_uc010dkn.2_Silent_p.S290S|DLGAP1_uc010wyw.1_Silent_p.S288S|DLGAP1_uc010wyx.1_Silent_p.S304S|DLGAP1_uc010wyy.1_Silent_p.S266S|DLGAP1_uc002kmg.2_Silent_p.S280S	p.Q583K|p.S582S	NM_004746	NP_004737	O14490	DLGP1_HUMAN			5	1814|1813	-		Colorectal(8;0.0257)	583|582					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation|Silent	SNP	ENST00000315677.3	37	c.1747C>A|c.1746C>T	CCDS11836.1																																																																																				PASS	0.559	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			47|48	102|103	47	102	---	---	---	---
KCTD1	284252	broad.mit.edu	37	18	24056539	24056539	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr18:24056539C>A	ENST00000408011.3	-	3	808	c.249G>T	c.(247-249)atG>atT	p.M83I	KCTD1_ENST00000580059.1_Missense_Mutation_p.M83I|KCTD1_ENST00000317932.7_Missense_Mutation_p.M83I|KCTD1_ENST00000417602.1_Missense_Mutation_p.M691I|KCTD1_ENST00000579973.1_Missense_Mutation_p.M83I	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	83	BTB.				negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.M83I(1)|p.M691I(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TATATCTGAACATCTGTCCAT	0.373																																						uc002kvw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(247-249)ATG>ATT		potassium channel tetramerisation domain							99.0	85.0	90.0					18																	24056539		2203	4300	6503	SO:0001583	missense	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24056539C>A	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.249G>T	18.37:g.24056539C>A	ENSP00000384367:p.Met83Ile					KCTD1_uc010xbj.1_Missense_Mutation_p.M691I|KCTD1_uc010xbk.1_Missense_Mutation_p.M83I|KCTD1_uc002kvy.2_Missense_Mutation_p.M1I	p.M83I	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		3	809	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		83			BTB.		A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	c.249G>T	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857893	0.32791	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.39997	1.05;1.05;1.05	5.78	5.78	0.91487	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	N	0.03967	-0.31	0.80722	D	1	B	0.15141	0.012	B	0.22880	0.042	T	0.08848	-1.0702	10	0.36615	T	0.2	.	20.0026	0.97425	0.0:1.0:0.0:0.0	.	83	Q719H9	KCTD1_HUMAN	I	83;691;83	ENSP00000314831:M83I;ENSP00000408405:M691I;ENSP00000384367:M83I	ENSP00000314831:M83I	M	-	3	0	KCTD1	22310537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.663000	0.68038	2.722000	0.93159	0.650000	0.86243	ATG		PASS	0.373	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		25	60	25	60	---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28723718	28723718	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr18:28723718C>T	ENST00000257198.5	-	8	1237	c.976G>A	c.(976-978)Gac>Aac	p.D326N	DSC1_ENST00000257197.3_Missense_Mutation_p.D326N|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	326	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D326N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCACCCATGTCTCGCACTTCC	0.333																																						uc002kwn.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(976-978)GAC>AAC		desmocollin 1 isoform Dsc1a preproprotein							87.0	82.0	84.0					18																	28723718		2203	4299	6502	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28723718C>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.976G>A	18.37:g.28723718C>T	ENSP00000257198:p.Asp326Asn					DSC1_uc002kwm.2_Missense_Mutation_p.D326N	p.D326N	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		8	1238	-			326			Extracellular (Potential).|Cadherin 2.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.976G>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548133	0.86022	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.79940	-1.32;-1.32	5.21	5.21	0.72293	Cadherin (5);Cadherin-like (1);	0.000000	0.49305	D	0.000145	D	0.91955	0.7452	M	0.91717	3.235	0.80722	D	1	D;P	0.89917	1.0;0.884	D;B	0.91635	0.999;0.394	D	0.93530	0.6869	10	0.87932	D	0	.	17.8926	0.88877	0.0:1.0:0.0:0.0	.	326;326	Q08554;Q9HB00	DSC1_HUMAN;.	N	326	ENSP00000257197:D326N;ENSP00000257198:D326N	ENSP00000257197:D326N	D	-	1	0	DSC1	26977716	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.866000	0.69590	2.584000	0.87258	0.591000	0.81541	GAC		PASS	0.333	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		22	46	22	46	---	---	---	---
TIMM21	29090	broad.mit.edu	37	18	71825704	71825704	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr18:71825704C>G	ENST00000169551.6	+	6	1034	c.736C>G	c.(736-738)Caa>Gaa	p.Q246E		NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	246					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)		p.Q246E(1)									TAATCGATCCCAAGATGATTA	0.363																																						uc010dqr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)CAA>GAA		hypothetical protein LOC29090 precursor							34.0	39.0	37.0					18																	71825704		2198	4300	6498	SO:0001583	missense	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71825704C>G	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.736C>G	18.37:g.71825704C>G	ENSP00000169551:p.Gln246Glu						p.Q246E	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN			6	1034	+		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)	246					Q9P010	Missense_Mutation	SNP	ENST00000169551.6	37	c.736C>G	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	C	5.906	0.351181	0.11182	.	.	ENSG00000075336	ENST00000169551	T	0.41400	1.0	5.06	2.93	0.34026	.	2.832560	0.00923	N	0.002608	T	0.32285	0.0824	L	0.31926	0.97	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12811	-1.0533	10	0.18710	T	0.47	1.3656	4.232	0.10608	0.0:0.4544:0.2055:0.3401	.	246	Q9BVV7	TI21L_HUMAN	E	246	ENSP00000169551:Q246E	ENSP00000169551:Q246E	Q	+	1	0	C18orf55	69976684	0.866000	0.29940	0.001000	0.08648	0.618000	0.37518	0.953000	0.29162	0.533000	0.28675	0.462000	0.41574	CAA		PASS	0.363	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		3	19	3	19	---	---	---	---
SHC2	25759	broad.mit.edu	37	19	422160	422161	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:422160_422161CC>AA	ENST00000264554.6	-	11	1604_1605	c.1605_1606GG>TT	c.(1603-1608)gtGGac>gtTTac	p.D536Y		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	536	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)		p.D897Y(2)|p.V896V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		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)		CCCTCGGGGTCCACGAGCAGCA	0.683																																						uc002loq.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(1606-1608)GAC>TAC|c.(1603-1605)GTG>GTT		SHC (Src homology 2 domain containing)																																				SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:422160C>A|g.chr19:422161C>A	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1605_1606delinsAA	19.37:g.422160_422161delinsAA	ENSP00000264554:p.Asp536Tyr					SHC2_uc002lop.3_Missense_Mutation_p.D277Y|SHC2_uc002lop.3_Silent_p.V276V	p.D536Y|p.V535V	NM_012435	NP_036567	P98077	SHC2_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)	11	1606|1605	-		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)	536|535			SH2.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation|Silent	SNP	ENST00000264554.6	37	c.1606G>T|c.1605G>T	CCDS45891.1																																																																																				PASS	0.683	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			9	15	9	15	---	---	---	---
TBXA2R	6915	broad.mit.edu	37	19	3600005	3600005	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:3600005G>T	ENST00000375190.4	-	2	1021	c.628C>A	c.(628-630)Ctg>Atg	p.L210M	TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000587717.1_5'UTR|TBXA2R_ENST00000411851.3_Missense_Mutation_p.L210M	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	210					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)	p.L210M(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AGGAAGGACAGCCCGACCGAG	0.697																																						uc002lyg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)CTG>ATG		thromboxane A2 receptor isoform alpha	Ridogrel(DB01207)						20.0	31.0	28.0					19																	3600005		2134	4229	6363	SO:0001583	missense	6915				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600005G>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.628C>A	19.37:g.3600005G>T	ENSP00000364336:p.Leu210Met					TBXA2R_uc002lye.1_Intron	p.L210M	NM_001060	NP_001051	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	842	-		Hepatocellular(1079;0.137)	210			Helical; Name=5; (Potential).		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.628C>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340336	0.24339	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.46063	0.88;0.88	4.53	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.235442	0.35262	N	0.003340	T	0.39036	0.1063	L	0.36672	1.1	0.38713	D	0.953269	B	0.29531	0.247	B	0.38428	0.273	T	0.43147	-0.9409	10	0.52906	T	0.07	-17.1387	12.8575	0.57894	0.0:0.0:0.8353:0.1647	.	210	P21731	TA2R_HUMAN	M	210	ENSP00000393333:L210M;ENSP00000364336:L210M	ENSP00000364336:L210M	L	-	1	2	TBXA2R	3551005	1.000000	0.71417	0.773000	0.31616	0.043000	0.13939	3.323000	0.52014	1.016000	0.39470	0.313000	0.20887	CTG		PASS	0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			13	15	13	15	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8175791	8175791	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:8175791C>A	ENST00000600128.1	-	34	4685	c.4271G>T	c.(4270-4272)gGa>gTa	p.G1424V	FBN3_ENST00000601739.1_Missense_Mutation_p.G1424V|FBN3_ENST00000270509.2_Missense_Mutation_p.G1424V			Q75N90	FBN3_HUMAN	fibrillin 3	1424	EGF-like 22; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G1424V(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCGGAACATTCCAGGCAGGTT	0.612																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(4270-4272)GGA>GTA		fibrillin 3 precursor							178.0	144.0	155.0					19																	8175791		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8175791C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4271G>T	19.37:g.8175791C>A	ENSP00000470498:p.Gly1424Val						p.G1424V	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			33	4292	-			1424			EGF-like 22; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4271G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136254	0.56936	.	.	ENSG00000142449	ENST00000270509	D	0.99557	-6.16	3.05	3.05	0.35203	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99600	0.9855	H	0.95982	3.75	0.80722	D	1	D	0.54601	0.967	P	0.58013	0.831	D	0.98258	1.0497	10	0.87932	D	0	.	10.3696	0.44046	0.0:0.8955:0.0:0.1045	.	1424	Q75N90	FBN3_HUMAN	V	1424	ENSP00000270509:G1424V	ENSP00000270509:G1424V	G	-	2	0	FBN3	8081791	1.000000	0.71417	0.275000	0.24674	0.622000	0.37654	5.315000	0.65810	1.416000	0.47057	0.462000	0.41574	GGA		PASS	0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		67	120	67	120	---	---	---	---
ACTL9	284382	broad.mit.edu	37	19	8808488	8808488	+	Silent	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:8808488G>A	ENST00000324436.3	-	1	684	c.564C>T	c.(562-564)caC>caT	p.H188H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	188						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H188H(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGACACGACCGTGGGCGTAGA	0.662																																						uc002mkl.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(562-564)CAC>CAT		actin-like 9							50.0	46.0	47.0					19																	8808488		2203	4300	6503	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808488G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.564C>T	19.37:g.8808488G>A							p.H188H	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	685	-			188					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.564C>T	CCDS12207.1																																																																																				PASS	0.662	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		28	48	28	48	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9062542	9062542	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:9062542G>T	ENST00000397910.4	-	3	25107	c.24904C>A	c.(24904-24906)Cct>Act	p.P8302T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8304	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P8302T(2)|p.P3935T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCAGGCCAGGGTTGAGAAGA	0.517																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24904-24906)CCT>ACT		mucin 16							88.0	84.0	85.0					19																	9062542		1952	4150	6102	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062542G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24904C>A	19.37:g.9062542G>T	ENSP00000381008:p.Pro8302Thr						p.P8302T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25108	-			8304			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24904C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.550	-0.091949	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.24350	1.86	2.41	-3.9	0.04181	.	.	.	.	.	T	0.18383	0.0441	L	0.38175	1.15	.	.	.	B	0.24426	0.103	B	0.26202	0.067	T	0.25950	-1.0117	8	0.87932	D	0	.	8.2683	0.31829	0.7756:0.0:0.2244:0.0	.	8302	B5ME49	.	T	8302	ENSP00000381008:P8302T	ENSP00000381008:P8302T	P	-	1	0	MUC16	8923542	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-3.157000	0.00579	-0.987000	0.03494	0.385000	0.25706	CCT		PASS	0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		40	99	40	99	---	---	---	---
OR7E24	26648	broad.mit.edu	37	19	9362644	9362644	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:9362644A>G	ENST00000456448.1	+	1	1039	c.925A>G	c.(925-927)Agc>Ggc	p.S309G		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S309G(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CTTCATCTACAGCCTGAGGAA	0.483																																						uc002mlb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(925-927)AGC>GGC		olfactory receptor, family 7, subfamily E,							73.0	74.0	73.0					19																	9362644		2200	4297	6497	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362644A>G	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.925A>G	19.37:g.9362644A>G	ENSP00000387523:p.Ser309Gly						p.S309G	NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN			1	925	+			309			Helical; Name=7; (Potential).		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.925A>G	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	a	14.14	2.447588	0.43429	.	.	ENSG00000237521	ENST00000456448	T	0.37915	1.17	2.21	2.21	0.28008	.	.	.	.	.	T	0.46619	0.1402	L	0.43646	1.37	0.29734	N	0.83767	D	0.69078	0.997	D	0.65773	0.938	T	0.39187	-0.9626	9	0.72032	D	0.01	.	8.9711	0.35908	1.0:0.0:0.0:0.0	.	309	Q6IFN5	O7E24_HUMAN	G	309	ENSP00000387523:S309G	ENSP00000387523:S309G	S	+	1	0	OR7E24	9223644	0.324000	0.24652	0.998000	0.56505	0.380000	0.30137	1.187000	0.32090	1.023000	0.39654	0.358000	0.22013	AGC		PASS	0.483	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			34	81	34	81	---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12758128	12758128	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:12758128T>C	ENST00000456935.2	-	23	2882	c.2842A>G	c.(2842-2844)Atc>Gtc	p.I948V	MAN2B1_ENST00000221363.4_Missense_Mutation_p.I947V|CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.H134R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	948					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.I948V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGCGGGTGATGGTGAAGGTG	0.632																																						uc002mub.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(2842-2844)ATC>GTC		mannosidase, alpha, class 2B, member 1							74.0	70.0	71.0					19																	12758128		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12758128T>C		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2842A>G	19.37:g.12758128T>C	ENSP00000395473:p.Ile948Val					MAN2B1_uc010dyv.1_Missense_Mutation_p.I947V	p.I948V	NM_000528	NP_000519	O00754	MA2B1_HUMAN			23	2918	-			948					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.2842A>G	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638704	0.29157	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.83419	-1.72;-1.72	5.74	5.74	0.90152	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.45867	D	0.000321	T	0.76793	0.4037	L	0.52573	1.65	0.36905	D	0.890622	P;P	0.39376	0.67;0.62	B;B	0.36092	0.205;0.217	T	0.77978	-0.2384	10	0.21540	T	0.41	-57.5785	12.4147	0.55486	0.0:0.0:0.0:1.0	.	947;948	G5E928;O00754	.;MA2B1_HUMAN	V	948;887;947	ENSP00000395473:I948V;ENSP00000221363:I947V	ENSP00000221363:I947V	I	-	1	0	MAN2B1	12619128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.472000	0.53114	2.189000	0.69895	0.459000	0.35465	ATC		PASS	0.632	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			43	84	43	84	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14748941	14748941	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:14748941G>T	ENST00000253673.5	-	11	1560	c.1460C>A	c.(1459-1461)cCt>cAt	p.P487H	EMR3_ENST00000599900.1_Missense_Mutation_p.P272H|EMR3_ENST00000344373.4_Missense_Mutation_p.P435H|EMR3_ENST00000443157.2_Missense_Mutation_p.P361H	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	487					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P487H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ATAAAGGTGAGGCCAGGAGGC	0.498																																						uc002mzi.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1459-1461)CCT>CAT		egf-like module-containing mucin-like receptor							132.0	111.0	118.0					19																	14748941		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14748941G>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1460C>A	19.37:g.14748941G>T	ENSP00000253673:p.Pro487His					EMR3_uc010dzp.2_Missense_Mutation_p.P435H|EMR3_uc010xnv.1_Missense_Mutation_p.P361H	p.P487H	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			11	1608	-			487			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000253673.5	37	c.1460C>A	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913361	0.33815	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.36520	1.25;1.25;1.25	4.35	4.35	0.52113	GPCR, family 2-like (1);	.	.	.	.	T	0.33030	0.0849	L	0.38175	1.15	0.26320	N	0.977688	P;P;P	0.49090	0.919;0.799;0.572	B;P;P	0.46026	0.414;0.465;0.501	T	0.09335	-1.0679	9	0.14252	T	0.57	.	14.422	0.67190	0.0:0.0:1.0:0.0	.	361;435;487	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	H	361;487;435	ENSP00000396208:P361H;ENSP00000253673:P487H;ENSP00000340758:P435H	ENSP00000253673:P487H	P	-	2	0	EMR3	14609941	0.611000	0.26992	0.981000	0.43875	0.315000	0.28087	3.474000	0.53129	2.249000	0.74217	0.655000	0.94253	CCT		PASS	0.498	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		62	144	62	144	---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15572071	15572071	+	Nonsense_Mutation	SNP	C	C	A	rs372725125		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:15572071C>A	ENST00000343625.7	-	4	587	c.502G>T	c.(502-504)Gag>Tag	p.E168*		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	168					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)	p.E168*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						ATGCTGCCCTCGGAGCTAGCA	0.637																																						uc002nbe.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(502-504)GAG>TAG		RAS protein activator like 3							38.0	41.0	40.0					19																	15572071		1922	4127	6049	SO:0001587	stop_gained	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15572071C>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.502G>T	19.37:g.15572071C>A	ENSP00000341905:p.Glu168*						p.E168*	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			4	588	-			168					Q8N2T9|Q9H735	Nonsense_Mutation	SNP	ENST00000343625.7	37	c.502G>T	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700259	0.68501	.	.	ENSG00000105122	ENST00000343625	.	.	.	3.88	3.88	0.44766	.	0.000000	0.32769	U	0.005677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	12.0719	0.53622	0.0:1.0:0.0:0.0	.	.	.	.	X	168	.	ENSP00000341905:E168X	E	-	1	0	RASAL3	15433071	0.061000	0.20836	0.014000	0.15608	0.243000	0.25628	2.055000	0.41345	2.097000	0.63578	0.462000	0.41574	GAG		PASS	0.637	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		6	25	6	25	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22157333	22157333	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:22157333G>T	ENST00000397126.4	-	4	651	c.503C>A	c.(502-504)aCt>aAt	p.T168N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T168N(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTCTTTCCAGTATGCCTTAT	0.328																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(502-504)ACT>AAT		zinc finger protein 208							109.0	106.0	107.0					19																	22157333		2035	4226	6261	SO:0001583	missense	7757							g.chr19:22157333G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.503C>A	19.37:g.22157333G>T	ENSP00000380315:p.Thr168Asn					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.T168N	NM_007153	NP_009084					4	652	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.503C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584365	0.28268	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.19394	2.15	1.41	0.189	0.15119	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37652	0.1011	.	.	.	0.09310	N	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.13045	-1.0524	8	0.59425	D	0.04	.	5.2	0.15258	0.208:0.0:0.792:0.0	.	168	O43345	ZN208_HUMAN	N	168	ENSP00000380315:T168N	ENSP00000380315:T168N	T	-	2	0	ZNF208	21949173	0.011000	0.17503	0.000000	0.03702	0.541000	0.35023	1.201000	0.32259	-0.037000	0.13646	0.289000	0.19496	ACT		PASS	0.328	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		34	105	34	105	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039975	31039975	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:31039975C>T	ENST00000355537.3	+	4	3596	c.3449C>T	c.(3448-3450)cCc>cTc	p.P1150L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1150					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.P1150L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCCTGATCCCCGAAACCACG	0.547																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3448-3450)CCC>CTC		zinc finger protein 536							69.0	66.0	67.0					19																	31039975		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039975C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3449C>T	19.37:g.31039975C>T	ENSP00000347730:p.Pro1150Leu					ZNF536_uc010edd.1_Missense_Mutation_p.P1150L	p.P1150L	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3587	+	Esophageal squamous(110;0.0834)		1150					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3449C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291761	0.23564	.	.	ENSG00000198597	ENST00000355537	T	0.08720	3.06	5.59	4.49	0.54785	.	0.622369	0.17267	N	0.180537	T	0.06645	0.0170	N	0.24115	0.695	0.52099	D	0.999944	B;B	0.28128	0.201;0.201	B;B	0.25140	0.058;0.058	T	0.26643	-1.0097	10	0.56958	D	0.05	-25.9219	11.0139	0.47677	0.1442:0.7168:0.1391:0.0	.	1150;1150	A7E228;O15090	.;ZN536_HUMAN	L	1150	ENSP00000347730:P1150L	ENSP00000347730:P1150L	P	+	2	0	ZNF536	35731815	0.947000	0.32204	0.982000	0.44146	0.751000	0.42716	2.033000	0.41136	2.616000	0.88540	0.655000	0.94253	CCC		PASS	0.547	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		20	105	20	105	---	---	---	---
CEP89	84902	broad.mit.edu	37	19	33392320	33392320	+	Splice_Site	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:33392320T>A	ENST00000305768.5	-	15	1654		c.e15-2			NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa						cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.?(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGTAATTGGCTGAAGGACAAA	0.478																																						uc002nty.2																			1	Unknown(1)		lung(1)		0						c.e15-1		coiled-coil domain containing 123							135.0	129.0	131.0					19																	33392320		2203	4300	6503	SO:0001630	splice_region_variant	84902					centrosome|spindle pole		g.chr19:33392320T>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1566-2A>T	19.37:g.33392320T>A						CCDC123_uc002ntx.2_Splice_Site_p.S275_splice|CCDC123_uc010edg.2_Splice_Site	p.S522_splice	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN			15	1655	-	Esophageal squamous(110;0.137)							B9EGA6|Q8N5J8	Splice_Site	SNP	ENST00000305768.5	37	c.1566_splice	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.827744	0.50845	.	.	ENSG00000121289	ENST00000305768	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7163	0.69272	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP89	38084160	1.000000	0.71417	0.986000	0.45419	0.418000	0.31294	5.735000	0.68587	2.011000	0.59026	0.528000	0.53228	.		PASS	0.478	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816	Intron	69	221	69	221	---	---	---	---
ZNF567	163081	broad.mit.edu	37	19	37211129	37211129	+	Silent	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:37211129A>G	ENST00000536254.2	+	6	1725	c.1503A>G	c.(1501-1503)ggA>ggG	p.G501G	ZNF567_ENST00000360729.4_Silent_p.G470G|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Silent_p.G470G|ZNF567_ENST00000585696.1_Silent_p.G470G|ZNF567_ENST00000392163.2_Silent_p.G470G			Q8N184	ZN567_HUMAN	zinc finger protein 567	501					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.G470G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTCACACAGGAGAGAAACCAT	0.388																																						uc010xtl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1501-1503)GGA>GGG		zinc finger protein 567							69.0	67.0	67.0					19																	37211129		2203	4300	6503	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211129A>G	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1503A>G	19.37:g.37211129A>G						ZNF567_uc002oeo.1_Silent_p.G501G|ZNF567_uc010xtk.1_Silent_p.G501G|ZNF567_uc002oep.3_Silent_p.G470G|ZNF567_uc002oeq.1_Silent_p.G470G	p.G501G	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1725	+	Esophageal squamous(110;0.198)		501					B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.1503A>G																																																																																					PASS	0.388	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		23	121	23	121	---	---	---	---
ACTN4	81	broad.mit.edu	37	19	39212286	39212286	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:39212286A>G	ENST00000252699.2	+	12	1476	c.1400A>G	c.(1399-1401)cAg>cGg	p.Q467R	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Missense_Mutation_p.Q248R	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	467					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q467R(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTGCGCACCAGGACCGCGTG	0.622																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1399-1401)CAG>CGG		actinin, alpha 4							106.0	82.0	90.0					19																	39212286		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39212286A>G	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1400A>G	19.37:g.39212286A>G	ENSP00000252699:p.Gln467Arg					ACTN4_uc010egc.1_Missense_Mutation_p.Q467R	p.Q467R	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		12	1459	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		467			Spectrin 2.		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.1400A>G	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728874	0.89390	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000390009	T;T	0.54071	0.59;0.59	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000001	T	0.68081	0.2962	M	0.66939	2.045	0.80722	D	1	P;D	0.56968	0.732;0.978	P;D	0.69142	0.828;0.962	T	0.72197	-0.4363	10	0.87932	D	0	.	12.6854	0.56944	1.0:0.0:0.0:0.0	.	467;467	E7EV83;O43707	.;ACTN4_HUMAN	R	467;467;248	ENSP00000252699:Q467R;ENSP00000439497:Q248R	ENSP00000252699:Q467R	Q	+	2	0	ACTN4	43904126	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.139000	0.94554	1.897000	0.54924	0.379000	0.24179	CAG		PASS	0.622	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			20	73	20	73	---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41097083	41097083	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:41097083C>T	ENST00000291842.5	+	18	2143	c.2094C>T	c.(2092-2094)ccC>ccT	p.P698P	LTBP4_ENST00000545697.1_5'Flank|LTBP4_ENST00000204005.9_5'Flank|SHKBP1_ENST00000600733.1_Silent_p.P673P	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	698					protein homooligomerization (GO:0051260)			p.P698P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCACACCTCCCAAGATGAAGC	0.622																																						uc002oob.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2092-2094)CCC>CCT		SH3KBP1 binding protein 1							62.0	61.0	61.0					19																	41097083		2203	4300	6503	SO:0001819	synonymous_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41097083C>T	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.2094C>T	19.37:g.41097083C>T						SHKBP1_uc002ooc.2_Silent_p.P673P|SHKBP1_uc002ood.2_Silent_p.P606P|SHKBP1_uc002ooe.2_Silent_p.P535P|SHKBP1_uc002oof.2_Silent_p.P534P|SHKBP1_uc010xvm.1_Silent_p.P478P|SHKBP1_uc010xvn.1_Silent_p.P576P|LTBP4_uc002oog.1_5'Flank	p.P698P	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		18	2143	+			698					Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	c.2094C>T	CCDS12560.1																																																																																				PASS	0.622	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		11	52	11	52	---	---	---	---
CYP2F1	1572	broad.mit.edu	37	19	41626392	41626392	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:41626392A>G	ENST00000331105.2	+	4	547	c.475A>G	c.(475-477)Aaa>Gaa	p.K159E		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	159					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.K159E(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGAGCTGCGGAAAACTGAAGG	0.493																																						uc002opu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)AAA>GAA		cytochrome P450, family 2, subfamily F,							92.0	98.0	96.0					19																	41626392		2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41626392A>G	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.475A>G	19.37:g.41626392A>G	ENSP00000333534:p.Lys159Glu					CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.K159E|CYP2F1_uc002opv.1_RNA	p.K159E	NM_000774	NP_000765	P24903	CP2F1_HUMAN			4	531	+			159					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.475A>G	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.815252	0.32053	.	.	ENSG00000197446	ENST00000331105	T	0.69040	-0.37	3.95	3.95	0.45737	.	0.558760	0.18575	U	0.137204	T	0.54431	0.1858	L	0.43757	1.38	0.09310	N	1	B;B	0.32653	0.166;0.379	B;B	0.28916	0.096;0.089	T	0.54166	-0.8334	10	0.66056	D	0.02	.	8.0194	0.30400	0.8178:0.0:0.0:0.1822	.	159;159	Q32MN5;P24903	.;CP2F1_HUMAN	E	159	ENSP00000333534:K159E	ENSP00000333534:K159E	K	+	1	0	CYP2F1	46318232	0.028000	0.19301	0.786000	0.31890	0.778000	0.44026	1.679000	0.37597	1.814000	0.52955	0.458000	0.33432	AAA		PASS	0.493	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			48	202	48	202	---	---	---	---
CEACAM20	125931	broad.mit.edu	37	19	45029205	45029205	+	RNA	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:45029205G>T	ENST00000454753.1	-	0	403							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)		p.T42N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTCACTTTGGGTGGCATCAAG	0.562																																						uc010ejn.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(124-126)ACC>AAC		carcinoembryonic antigen-related cell adhesion							116.0	124.0	122.0					19																	45029205		2068	4209	6277			125931					integral to membrane		g.chr19:45029205G>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029205G>T						CEACAM20_uc010ejo.1_Missense_Mutation_p.T42N|CEACAM20_uc010ejp.1_Missense_Mutation_p.T42N|CEACAM20_uc010ejq.1_Missense_Mutation_p.T42N	p.T42N	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			2	141	-		Prostate(69;0.0352)	42			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000454753.1	37	c.125C>A																																																																																					PASS	0.562	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		53	127	53	127	---	---	---	---
CLPTM1	1209	broad.mit.edu	37	19	45489736	45489737	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:45489736_45489737GG>TT	ENST00000337392.5	+	7	846_847	c.696_697GG>TT	c.(694-699)gtGGag>gtTTag	p.E233*	CLPTM1_ENST00000546079.1_Nonsense_Mutation_p.E131*|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000541297.2_Nonsense_Mutation_p.E219*	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	233					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.E233*(4)|p.V232V(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ATGGGCCTGTGGAGGTGATCTC	0.589																																						uc002pai.2																			6	Substitution - Nonsense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)	1						c.(694-696)GTG>GTT|c.(697-699)GAG>TAG		cleft lip and palate associated transmembrane																																				SO:0001587	stop_gained	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45489736G>T|g.chr19:45489737G>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		Exception_encountered	19.37:g.45489736_45489737delinsTT	ENSP00000336994:p.Glu233*					CLPTM1_uc010ejv.1_Silent_p.V130V|CLPTM1_uc010xxf.1_Silent_p.V130V|CLPTM1_uc010xxg.1_Silent_p.V218V|CLPTM1_uc010ejv.1_Nonsense_Mutation_p.E131*|CLPTM1_uc010xxf.1_Nonsense_Mutation_p.E131*|CLPTM1_uc010xxg.1_Nonsense_Mutation_p.E219*	p.V232V|p.E233*	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	7	711|712	+		all_neural(266;0.224)|Ovarian(192;0.231)	232|233			Extracellular (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent|Nonsense_Mutation	SNP	ENST00000337392.5	37	c.696G>T|c.697G>T	CCDS12651.1																																																																																				PASS	0.589	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		42|40	147|150	40	147	---	---	---	---
HAS1	3036	broad.mit.edu	37	19	52219607	52219607	+	Silent	SNP	A	A	T	rs202108912		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:52219607A>T	ENST00000222115.1	-	4	997	c.963T>A	c.(961-963)ctT>ctA	p.L321L	HAS1_ENST00000601714.1_Silent_p.L328L|HAS1_ENST00000594621.1_Intron|HAS1_ENST00000540069.2_Silent_p.L320L	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	321					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.L321L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACCAGGCCTCAAGAAACTGCT	0.527																																					NSCLC(132;636 2450 45807 47979)	uc002pxo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(961-963)CTT>CTA		hyaluronan synthase 1							105.0	97.0	100.0					19																	52219607		2203	4300	6503	SO:0001819	synonymous_variant	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52219607A>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.963T>A	19.37:g.52219607A>T						HAS1_uc010epc.1_Intron|HAS1_uc010epd.1_Silent_p.L286L|HAS1_uc002pxn.1_Silent_p.L328L|HAS1_uc002pxp.1_Silent_p.L320L	p.L321L	NM_001523	NP_001514	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	4	998	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	321			Cytoplasmic (Potential).		Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	c.963T>A	CCDS12838.1																																																																																				PASS	0.527	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		11	133	11	133	---	---	---	---
DPRX	503834	broad.mit.edu	37	19	54140201	54140201	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:54140201G>T	ENST00000376650.1	+	3	586	c.535G>T	c.(535-537)Ggc>Tgc	p.G179C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G179C(1)		endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CTTCCATTCTGGCTCTCCTGC	0.438																																						uc002qcf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)GGC>TGC		divergent-paired related homeobox							113.0	110.0	111.0					19																	54140201		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54140201G>T		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.535G>T	19.37:g.54140201G>T	ENSP00000365838:p.Gly179Cys						p.G179C	NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	3	586	+	Ovarian(34;0.19)		179						Missense_Mutation	SNP	ENST00000376650.1	37	c.535G>T	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	g	7.831	0.719913	0.15372	.	.	ENSG00000204595	ENST00000376650	D	0.95001	-3.58	1.45	-2.9	0.05648	.	.	.	.	.	T	0.80502	0.4635	N	0.08118	0	0.09310	N	1	P	0.40144	0.704	B	0.25614	0.062	T	0.74118	-0.3768	9	0.56958	D	0.05	.	3.1744	0.06564	0.3272:0.2568:0.4159:0.0	.	179	A6NFQ7	DPRX_HUMAN	C	179	ENSP00000365838:G179C	ENSP00000365838:G179C	G	+	1	0	DPRX	58832013	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.233000	0.01204	-0.996000	0.03455	-1.080000	0.02220	GGC		PASS	0.438	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		58	236	58	236	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55085922	55085922	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:55085922G>C	ENST00000251377.3	+	4	358	c.225G>C	c.(223-225)gaG>gaC	p.E75D	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.E63D|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Missense_Mutation_p.E75D|LILRA2_ENST00000251376.3_Missense_Mutation_p.E75D			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	75	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.E75D(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GGATACAAGAGCCTGGGAAGA	0.522																																						uc002qgg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(223-225)GAG>GAC		leukocyte immunoglobulin-like receptor,							101.0	96.0	97.0					19																	55085922		2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55085922G>C	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.225G>C	19.37:g.55085922G>C	ENSP00000251377:p.Glu75Asp					LILRA2_uc010ern.2_Missense_Mutation_p.E75D|LILRA2_uc002qgf.2_Missense_Mutation_p.E75D|LILRA2_uc010yfe.1_Missense_Mutation_p.E75D|LILRA2_uc010yff.1_Missense_Mutation_p.E63D|LILRA2_uc010ero.2_Missense_Mutation_p.E63D|LILRA2_uc010yfg.1_Missense_Mutation_p.E75D	p.E75D	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	3	314	+			75			Extracellular (Potential).|Ig-like C2-type 1.		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.225G>C	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	4.453	0.083836	0.08583	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00700	5.82;5.82;5.82;5.82;5.82	2.93	0.624	0.17659	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.841960	0.02774	N	0.120055	T	0.01124	0.0037	L	0.52011	1.625	0.09310	N	1	B;B;B;B;B	0.27229	0.0;0.0;0.0;0.001;0.172	B;B;B;B;B	0.27170	0.0;0.002;0.004;0.007;0.077	T	0.48833	-0.9000	10	0.33940	T	0.23	.	4.183	0.10385	0.1427:0.2408:0.6165:0.0	.	75;75;63;75;75	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	D	75;75;75;75;63	ENSP00000388131:E75D;ENSP00000251377:E75D;ENSP00000375618:E75D;ENSP00000251376:E75D;ENSP00000375617:E63D	ENSP00000251376:E75D	E	+	3	2	LILRA2	59777734	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.170000	0.03118	0.101000	0.17610	-0.358000	0.07595	GAG		PASS	0.522	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			69	114	69	114	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55148200	55148200	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:55148200C>A	ENST00000396331.1	+	16	2181	c.1824C>A	c.(1822-1824)gcC>gcA	p.A608A	LILRB1_ENST00000396321.2_Silent_p.A608A|LILRB1_ENST00000418536.2_Silent_p.A592A|LILRB1_ENST00000396315.1_Silent_p.A610A|LILRB1_ENST00000396327.3_Silent_p.A609A|LILRB1_ENST00000396317.1_Silent_p.A592A|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000324602.7_Silent_p.A610A|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000434867.2_Silent_p.A608A|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.A659A|LILRB1_ENST00000396332.4_Silent_p.A609A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	608					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.A608A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CATCTGAAGCCCCCCAGGATG	0.657										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1822-1824)GCC>GCA		leukocyte immunoglobulin-like receptor,							63.0	59.0	61.0					19																	55148200		2203	4298	6501	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148200C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1824C>A	19.37:g.55148200C>A		HNSCC(37;0.09)				LILRB1_uc002qgl.2_Silent_p.A609A|LILRB1_uc002qgk.2_Silent_p.A609A|LILRB1_uc002qgm.2_Silent_p.A610A|LILRB1_uc010erq.2_Silent_p.A592A|LILRB1_uc010err.2_RNA	p.A608A	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	16	2164	+			608			Cytoplasmic (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1824C>A	CCDS42617.1																																																																																				PASS	0.657	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			32	110	32	110	---	---	---	---
PPP1R12C	54776	broad.mit.edu	37	19	55624120	55624120	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:55624120T>A	ENST00000263433.3	-	2	380	c.365A>T	c.(364-366)gAg>gTg	p.E122V	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.E48V|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.E122V	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C									p.E122V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGCGCCCTGCTCCACCAAGAA	0.642																																						uc002qix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(364-366)GAG>GTG		protein phosphatase 1, regulatory subunit 12C							82.0	73.0	76.0					19																	55624120		2203	4300	6503	SO:0001583	missense	54776					cytoplasm		g.chr19:55624120T>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.365A>T	19.37:g.55624120T>A	ENSP00000263433:p.Glu122Val					PPP1R12C_uc010yfs.1_Missense_Mutation_p.E48V|PPP1R12C_uc002qiy.2_Missense_Mutation_p.E122V	p.E122V	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	2	381	-			122			ANK 1.			Missense_Mutation	SNP	ENST00000263433.3	37	c.365A>T	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.021745	0.75275	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.69040	-0.37;-0.37;-0.37	4.71	4.71	0.59529	Ankyrin repeat-containing domain (4);	0.536674	0.19038	N	0.124366	T	0.77116	0.4083	L	0.60845	1.875	0.41229	D	0.986562	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.68353	0.957;0.928;0.957	T	0.79112	-0.1937	10	0.72032	D	0.01	.	12.4666	0.55762	0.0:0.0:0.0:1.0	.	48;122;122	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	V	122;122;48	ENSP00000263433:E122V;ENSP00000365573:E122V;ENSP00000387833:E48V	ENSP00000263433:E122V	E	-	2	0	PPP1R12C	60315932	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	3.499000	0.53310	2.127000	0.65507	0.459000	0.35465	GAG		PASS	0.642	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		50	144	50	144	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56372885	56372885	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr19:56372885C>A	ENST00000301295.6	+	4	2412	c.1990C>A	c.(1990-1992)Cat>Aat	p.H664N	NLRP4_ENST00000346986.5_Missense_Mutation_p.H664N|NLRP4_ENST00000587891.1_Missense_Mutation_p.H589N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	664					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.H664N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCAGCTGAGGCATCCCAGCTG	0.557																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1990-1992)CAT>AAT		NLR family, pyrin domain containing 4							111.0	97.0	102.0					19																	56372885		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56372885C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1990C>A	19.37:g.56372885C>A	ENSP00000301295:p.His664Asn					NLRP4_uc002qmf.2_Missense_Mutation_p.H589N|NLRP4_uc010etf.2_Missense_Mutation_p.H495N	p.H664N	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2412	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	664					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1990C>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	3.940	-0.014440	0.07681	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.89939	-2.59;-2.59	4.49	-1.98	0.07480	.	.	.	.	.	T	0.80210	0.4581	L	0.39085	1.19	0.09310	N	1	B;B;B	0.26512	0.151;0.115;0.07	B;B;B	0.29267	0.1;0.084;0.021	T	0.64266	-0.6448	9	0.22109	T	0.4	.	5.8691	0.18793	0.0:0.3377:0.4662:0.196	.	664;589;664	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	N	664	ENSP00000301295:H664N;ENSP00000344787:H664N	ENSP00000301295:H664N	H	+	1	0	NLRP4	61064697	0.012000	0.17670	0.000000	0.03702	0.014000	0.08584	0.343000	0.19944	-0.303000	0.08856	-0.140000	0.14226	CAT		PASS	0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		37	161	37	161	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1961062	1961062	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:1961062C>G	ENST00000217305.2	-	4	897	c.672G>C	c.(670-672)aaG>aaC	p.K224N	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.K224N|PDYN_ENST00000540134.1_Missense_Mutation_p.K224N	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	224					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.K224K(1)|p.K224N(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCCATAGCGCTTCTGGTTGT	0.567																																						uc010gaj.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(670-672)AAG>AAC		beta-neoendorphin-dynorphin preproprotein							101.0	110.0	107.0					20																	1961062		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961062C>G		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.672G>C	20.37:g.1961062C>G	ENSP00000217305:p.Lys224Asn					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.K224N|PDYN_uc010zpt.1_Missense_Mutation_p.K69N	p.K224N	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	914	-			224					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.672G>C	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698496	0.68386	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.93247	-3.19;-3.19;-3.19	5.0	0.8	0.18672	.	0.053861	0.64402	D	0.000001	D	0.96294	0.8791	M	0.90483	3.12	0.51482	D	0.999927	D	0.89917	1.0	D	0.97110	1.0	D	0.94445	0.7662	10	0.87932	D	0	-32.238	7.8967	0.29710	0.0:0.5719:0.0:0.4281	.	224	P01213	PDYN_HUMAN	N	224	ENSP00000440185:K224N;ENSP00000442259:K224N;ENSP00000217305:K224N	ENSP00000217305:K224N	K	-	3	2	PDYN	1909062	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	0.668000	0.25127	0.023000	0.15187	0.313000	0.20887	AAG		PASS	0.567	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			51	180	51	180	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3678513	3678513	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:3678513C>A	ENST00000344754.4	-	8	2053	c.2054G>T	c.(2053-2055)gGc>gTc	p.G685V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G685V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	685	Ig-like C2-type 6.				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.G685V(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						GAGGTACAAGCCCTCCTCTTC	0.622																																						uc002wja.2																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(2053-2055)GGC>GTC		sialoadhesin precursor							76.0	56.0	63.0					20																	3678513		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.chr20:3678513C>A	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.2054G>T	20.37:g.3678513C>A	ENSP00000341141:p.Gly685Val					SIGLEC1_uc002wiz.3_Missense_Mutation_p.G685V	p.G685V	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			8	2054	-			685			Ig-like C2-type 6.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.2054G>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989624	0.74589	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	D;D	0.85556	-2.0;-2.0	5.54	5.54	0.83059	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39759	N	0.001262	D	0.94198	0.8138	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94947	0.8096	10	0.87932	D	0	.	17.0271	0.86450	0.0:1.0:0.0:0.0	.	685;685	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	V	685	ENSP00000341141:G685V;ENSP00000202578:G685V	ENSP00000202578:G685V	G	-	2	0	SIGLEC1	3626513	0.992000	0.36948	0.976000	0.42696	0.769000	0.43574	4.423000	0.59861	2.884000	0.98904	0.655000	0.94253	GGC		PASS	0.622	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		36	118	36	118	---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7886921	7886921	+	Missense_Mutation	SNP	C	C	A	rs113948510		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:7886921C>A	ENST00000378789.3	-	4	652	c.601G>T	c.(601-603)Gac>Tac	p.D201Y		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	201	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.D201Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCACTGTCGTCTCCAAAATTT	0.353																																						uc002wmw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(601-603)GAC>TAC		hydroxyacid oxidase 1							100.0	99.0	99.0					20																	7886921		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7886921C>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.601G>T	20.37:g.7886921C>A	ENSP00000368066:p.Asp201Tyr					HAO1_uc010gbu.2_Missense_Mutation_p.D201Y	p.D201Y	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			4	625	-			201			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.601G>T	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860891	0.32884	.	.	ENSG00000101323	ENST00000378789	T	0.31510	1.49	5.54	5.54	0.83059	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.363274	0.34802	N	0.003670	T	0.40719	0.1128	M	0.73430	2.235	0.45733	D	0.998634	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	T	0.33445	-0.9868	10	0.87932	D	0	0.3332	19.4692	0.94956	0.0:1.0:0.0:0.0	.	201;201	A8K058;Q9UJM8	.;HAOX1_HUMAN	Y	201	ENSP00000368066:D201Y	ENSP00000368066:D201Y	D	-	1	0	HAO1	7834921	1.000000	0.71417	0.998000	0.56505	0.387000	0.30353	3.626000	0.54245	2.596000	0.87737	0.591000	0.81541	GAC		PASS	0.353	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			59	154	59	154	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9546740	9546740	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:9546740A>G	ENST00000378429.3	-	6	1828	c.1282T>C	c.(1282-1284)Tcc>Ccc	p.S428P	PAK7_ENST00000353224.5_Missense_Mutation_p.S428P|PAK7_ENST00000378423.1_Missense_Mutation_p.S428P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	428	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S428P(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGTTCATGGGACACCCTGGAG	0.632																																						uc002wnl.2																			1	Substitution - Missense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1282-1284)TCC>CCC		p21-activated kinase 7							66.0	66.0	66.0					20																	9546740		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546740A>G	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1282T>C	20.37:g.9546740A>G	ENSP00000367686:p.Ser428Pro					PAK7_uc002wnk.2_Missense_Mutation_p.S428P|PAK7_uc002wnj.2_Missense_Mutation_p.S428P|PAK7_uc010gby.1_Missense_Mutation_p.S428P	p.S428P	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1827	-			428			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1282T>C	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596271	0.86953	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.75154	-0.91;-0.91;-0.91	5.66	5.66	0.87406	.	0.100925	0.64402	D	0.000001	T	0.74306	0.3699	M	0.67397	2.05	0.80722	D	1	P;P	0.39717	0.684;0.684	B;B	0.39904	0.313;0.313	T	0.74586	-0.3616	9	.	.	.	.	15.9044	0.79412	1.0:0.0:0.0:0.0	.	428;428	B0AZM9;Q9P286	.;PAK7_HUMAN	P	428;428;428;376	ENSP00000367686:S428P;ENSP00000322957:S428P;ENSP00000367679:S428P	.	S	-	1	0	PAK7	9494740	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.293000	0.78740	2.144000	0.66660	0.477000	0.44152	TCC		PASS	0.632	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			36	142	36	142	---	---	---	---
OVOL2	58495	broad.mit.edu	37	20	18005510	18005510	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:18005510C>A	ENST00000278780.6	-	4	840	c.598G>T	c.(598-600)Gtg>Ttg	p.V200L	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	200					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)	p.V200L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGCTGCTGCACCCCATGGATT	0.572																																						uc002wqi.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(598-600)GTG>TTG		zinc finger protein 339							95.0	90.0	91.0					20																	18005510		2203	4300	6503	SO:0001583	missense	58495				negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:18005510C>A	AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.598G>T	20.37:g.18005510C>A	ENSP00000278780:p.Val200Leu						p.V200L	NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN			4	841	-			200					Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Missense_Mutation	SNP	ENST00000278780.6	37	c.598G>T	CCDS13132.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593748	0.86953	.	.	ENSG00000125850	ENST00000278780	T	0.08102	3.13	5.37	5.37	0.77165	Zinc finger, C2H2 (1);	0.071676	0.56097	D	0.000023	T	0.20170	0.0485	L	0.31120	0.905	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.01356	-1.1376	10	0.44086	T	0.13	-31.5759	19.1207	0.93362	0.0:1.0:0.0:0.0	.	200	Q9BRP0	OVOL2_HUMAN	L	200	ENSP00000278780:V200L	ENSP00000278780:V200L	V	-	1	0	OVOL2	17953510	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	4.884000	0.63135	2.497000	0.84241	0.655000	0.94253	GTG		PASS	0.572	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220		38	126	38	126	---	---	---	---
RBBP9	10741	broad.mit.edu	37	20	18474619	18474619	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:18474619C>T	ENST00000337227.4	-	3	306	c.231G>A	c.(229-231)ggG>ggA	p.G77G	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	77					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.G77G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CCGCGATGGCCCCAGAACTGT	0.483																																						uc002wqy.2																			1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(229-231)GGG>GGA		retinoblastoma binding protein 9							108.0	94.0	99.0					20																	18474619		2203	4300	6503	SO:0001819	synonymous_variant	10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18474619C>T	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.231G>A	20.37:g.18474619C>T							p.G77G	NM_006606	NP_006597	O75884	RBBP9_HUMAN			3	307	-			77					D3DW31|Q5JPH9|Q9H1D8	Silent	SNP	ENST00000337227.4	37	c.231G>A	CCDS13136.1																																																																																				PASS	0.483	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		37	93	37	93	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20177337	20177337	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:20177337A>G	ENST00000245957.5	+	16	1790	c.1714A>G	c.(1714-1716)Aag>Gag	p.K572E	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		572								p.K572E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCACTACACCAAGTTCTTTCT	0.458																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1714-1716)AAG>GAG		hypothetical protein LOC26074							138.0	125.0	129.0					20																	20177337		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20177337A>G																												ENST00000245957.5:c.1714A>G	20.37:g.20177337A>G	ENSP00000245957:p.Lys572Glu					C20orf26_uc010zse.1_Missense_Mutation_p.K552E	p.K572E	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1790	+			572					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1714A>G	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	32	5.109082	0.94292	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	T	0.52295	0.67	5.83	5.83	0.93111	.	0.057737	0.64402	D	0.000002	T	0.64789	0.2630	L	0.56769	1.78	0.80722	D	1	D;D	0.69078	0.969;0.997	P;D	0.68353	0.819;0.957	T	0.65034	-0.6266	10	0.49607	T	0.09	.	16.1905	0.81986	1.0:0.0:0.0:0.0	.	552;572	F8W6K4;Q8NHU2	.;CT026_HUMAN	E	512;140;552;572	ENSP00000245957:K572E	ENSP00000245957:K572E	K	+	1	0	C20orf26	20125337	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.130000	0.77235	2.212000	0.71576	0.533000	0.62120	AAG		PASS	0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			33	143	33	143	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20278834	20278834	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:20278834C>A	ENST00000245957.5	+	25	3302	c.3226C>A	c.(3226-3228)Cta>Ata	p.L1076I	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1076								p.L1076I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGGTTTAGAACTAGTAACCGG	0.388																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(3226-3228)CTA>ATA		hypothetical protein LOC26074							73.0	73.0	73.0					20																	20278834		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20278834C>A																												ENST00000245957.5:c.3226C>A	20.37:g.20278834C>A	ENSP00000245957:p.Leu1076Ile					C20orf26_uc002wrw.2_RNA	p.L1076I	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3302	+			1076					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.3226C>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.015282	0.00422	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.10382	2.88	5.27	0.192	0.15134	.	0.050599	0.85682	N	0.000000	T	0.02767	0.0083	N	0.02192	-0.645	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45673	-0.9245	10	0.05959	T	0.93	.	6.4225	0.21752	0.6197:0.2467:0.1336:0.0	.	1076	Q8NHU2	CT026_HUMAN	I	1016;1042;1076	ENSP00000245957:L1076I	ENSP00000245957:L1076I	L	+	1	2	C20orf26	20226834	1.000000	0.71417	0.909000	0.35828	0.012000	0.07955	1.035000	0.30216	0.038000	0.15604	-0.264000	0.10439	CTA		PASS	0.388	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			30	70	30	70	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21695287	21695287	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:21695287C>G	ENST00000398485.2	+	5	1505	c.1451C>G	c.(1450-1452)aCg>aGg	p.T484R	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	484					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T484R(1)|p.T390R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCAATCGGCACGGGCAGGATC	0.771																																						uc002wsj.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|kidney(1)	2						c.(1450-1452)ACG>AGG		paired box 1							11.0	12.0	11.0					20																	21695287		2173	4191	6364	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21695287C>G		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1451C>G	20.37:g.21695287C>G	ENSP00000381499:p.Thr484Arg					PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR	p.T484R	NM_006192	NP_006183	P15863	PAX1_HUMAN			5	1505	+			484					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.1451C>G	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136653	0.21123	.	.	ENSG00000125813	ENST00000398485	D	0.97430	-4.38	4.83	3.89	0.44902	.	1.989550	0.02262	N	0.067636	D	0.91583	0.7341	N	0.03608	-0.345	0.26189	N	0.979611	B	0.31879	0.344	B	0.22386	0.039	D	0.85536	0.1212	10	0.62326	D	0.03	.	10.2948	0.43618	0.0:0.9056:0.0:0.0944	.	484	P15863	PAX1_HUMAN	R	484	ENSP00000381499:T484R	ENSP00000381499:T484R	T	+	2	0	PAX1	21643287	0.004000	0.15560	0.007000	0.13788	0.017000	0.09413	1.230000	0.32612	1.165000	0.42670	0.555000	0.69702	ACG		PASS	0.771	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			3	7	3	7	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31671617	31671617	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:31671617G>T	ENST00000375483.3	+	3	614	c.614G>T	c.(613-615)gGa>gTa	p.G205V		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	205	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.G166V(1)									CTTCTTGGAGGAGGGGGTGTC	0.652																																						uc010zue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(613-615)GGA>GTA		antimicrobial peptide RY2G5 precursor							36.0	42.0	40.0					20																	31671617		2200	4296	6496	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671617G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.614G>T	20.37:g.31671617G>T	ENSP00000364632:p.Gly205Val						p.G205V	NM_182519	NP_872325	P59827	LPLC4_HUMAN			3	629	+			205			Gly-rich.		Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.614G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965249	0.53507	.	.	ENSG00000186191	ENST00000375483	T	0.01192	5.2	3.21	3.21	0.36854	.	0.000000	0.46145	D	0.000315	T	0.04227	0.0117	L	0.59436	1.845	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.52917	-0.8511	10	0.39692	T	0.17	-0.774	10.0505	0.42212	0.0:0.0:1.0:0.0	.	205	P59827	BPIB4_HUMAN	V	205	ENSP00000364632:G205V	ENSP00000364632:G205V	G	+	2	0	BPIFB4	31135278	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.717000	0.37991	1.791000	0.52520	0.407000	0.27541	GGA		PASS	0.652	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		23	70	23	70	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						uc002xav.2																			15	Substitution - coding silent(15)		lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(805-807)CAG>CAA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_uc002xaw.2_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	p.Q269Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			8	3378	-			269			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				PASS	0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	13	3	13	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40714482	40714482	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:40714482C>A	ENST00000373187.1	-	28	3857	c.3858G>T	c.(3856-3858)caG>caT	p.Q1286H	PTPRT_ENST00000373190.1_Missense_Mutation_p.Q1285H|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q1289H|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q1276H|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q1296H|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q1295H|PTPRT_ENST00000373198.4_Missense_Mutation_p.Q1305H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1286	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.Q1308H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGGCCAGTACTGCATACAGA	0.493																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(3856-3858)CAG>CAT		protein tyrosine phosphatase, receptor type, T							66.0	67.0	67.0					20																	40714482		1934	4138	6072	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40714482C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3858G>T	20.37:g.40714482C>A	ENSP00000362283:p.Gln1286His					PTPRT_uc010ggj.2_Missense_Mutation_p.Q1305H|PTPRT_uc010ggi.2_Missense_Mutation_p.Q489H	p.Q1286H	NM_007050	NP_008981	O14522	PTPRT_HUMAN			28	4042	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1286			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3858G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724651	0.89298	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.31	4.35	0.52113	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.061993	0.64402	D	0.000003	T	0.40040	0.1101	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.968;0.981	T	0.20505	-1.0273	10	0.87932	D	0	.	14.4101	0.67109	0.0:0.9281:0.0:0.0719	.	1308;1286	O14522-1;O14522	.;PTPRT_HUMAN	H	1285;1286;1289;1295;1308;1296;1276	ENSP00000362286:Q1285H;ENSP00000362283:Q1286H;ENSP00000362289:Q1289H;ENSP00000348408:Q1295H;ENSP00000362294:Q1308H;ENSP00000362280:Q1296H;ENSP00000362297:Q1276H	ENSP00000348408:Q1295H	Q	-	3	2	PTPRT	40147896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.168000	0.50801	2.765000	0.95021	0.655000	0.94253	CAG		PASS	0.493	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			31	136	31	136	---	---	---	---
PI3	5266	broad.mit.edu	37	20	43804748	43804748	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:43804748G>A	ENST00000243924.3	+	2	373	c.326G>A	c.(325-327)tGc>tAc	p.C109Y		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	109	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.C109Y(1)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GAAGGCTCTTGCGGGATGGCC	0.552																																						uc002xng.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)TGC>TAC		elafin preproprotein							100.0	91.0	94.0					20																	43804748		2203	4300	6503	SO:0001583	missense	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804748G>A	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.326G>A	20.37:g.43804748G>A	ENSP00000243924:p.Cys109Tyr						p.C109Y	NM_002638	NP_002629	P19957	ELAF_HUMAN			2	350	+		Myeloproliferative disorder(115;0.0122)	109			WAP.		E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	c.326G>A	CCDS13344.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202921	0.58234	.	.	ENSG00000124102	ENST00000243924	T	0.80994	-1.44	4.49	4.49	0.54785	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.000000	0.44483	D	0.000455	D	0.93562	0.7945	H	0.98901	4.365	0.09310	N	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.87454	0.2403	10	0.87932	D	0	.	13.4053	0.60908	0.0:0.0:1.0:0.0	.	109	P19957	ELAF_HUMAN	Y	109	ENSP00000243924:C109Y	ENSP00000243924:C109Y	C	+	2	0	PI3	43238162	0.006000	0.16342	0.022000	0.16811	0.228000	0.25075	1.493000	0.35605	2.432000	0.82394	0.650000	0.86243	TGC		PASS	0.552	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		33	116	33	116	---	---	---	---
STX16	8675	broad.mit.edu	37	20	57245631	57245631	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:57245631A>T	ENST00000371141.4	+	6	1344	c.620A>T	c.(619-621)gAt>gTt	p.D207V	STX16_ENST00000371132.4_Missense_Mutation_p.D186V|STX16_ENST00000355957.5_Missense_Mutation_p.D190V|STX16_ENST00000361830.3_Missense_Mutation_p.D207V|STX16_ENST00000359617.4_Missense_Mutation_p.D154V|STX16_ENST00000358029.4_Missense_Mutation_p.D203V|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000361770.5_Missense_Mutation_p.D190V|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.D207V	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	207					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.D186V(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CTAATGGATGATGGAGACGAT	0.438																																						uc002xzi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)GAT>GTT		syntaxin 16 isoform a							199.0	151.0	167.0					20																	57245631		2203	4300	6503	SO:0001583	missense	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57245631A>T	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.620A>T	20.37:g.57245631A>T	ENSP00000360183:p.Asp207Val					STX16_uc010zzq.1_Missense_Mutation_p.D21V|STX16_uc002xzk.2_Missense_Mutation_p.D190V|STX16_uc002xzm.2_Missense_Mutation_p.D203V|STX16_uc002xzj.2_Missense_Mutation_p.D186V|STX16_uc002xzl.2_Missense_Mutation_p.D21V	p.D207V	NM_001001433	NP_001001433	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		6	1355	+	all_lung(29;0.0175)		207			Cytoplasmic (Potential).		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	c.620A>T	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344767	0.82022	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000312283;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	T;T;T;T;T;T;T;T;T	0.50548	1.91;1.91;0.74;1.91;1.91;1.91;1.91;1.91;0.74	6.07	4.98	0.66077	t-SNARE (1);	0.057811	0.64402	U	0.000002	T	0.57475	0.2056	L	0.47716	1.5	0.80722	D	1	P;B;P;D	0.63046	0.955;0.066;0.951;0.992	P;B;P;D	0.63703	0.616;0.059;0.668;0.917	T	0.56177	-0.8022	10	0.45353	T	0.12	.	11.2231	0.48866	0.9293:0.0:0.0707:0.0	.	203;190;186;207	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	V	190;190;154;154;207;154;186;203;207;149;21	ENSP00000348229:D190V;ENSP00000355408:D190V;ENSP00000312086:D154V;ENSP00000352634:D154V;ENSP00000360183:D207V;ENSP00000360173:D186V;ENSP00000350723:D203V;ENSP00000354445:D207V;ENSP00000401801:D149V	ENSP00000360180:D154V	D	+	2	0	STX16	56679037	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	6.745000	0.74860	1.128000	0.42052	0.533000	0.62120	GAT		PASS	0.438	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		22	94	22	94	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57474005	57474005	+	Silent	SNP	A	A	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:57474005A>G	ENST00000371085.3	+	3	646	c.222A>G	c.(220-222)gaA>gaG	p.E74E	GNAS_ENST00000306090.10_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371081.1_Silent_p.E74E|GNAS_ENST00000371102.4_Intron|GNAS_ENST00000371100.4_Silent_p.E717E|GNAS_ENST00000371095.3_Intron|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371098.2_3'UTR|GNAS_ENST00000265620.7_Intron|GNAS_ENST00000354359.7_Silent_p.E74E	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	74					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E717E(1)|p.E74E(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGGGCGGCGAAGAGGACCCGC	0.473			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		2	Substitution - coding silent(2)		lung(2)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(2149-2151)GAA>GAG		GNAS complex locus XLas							111.0	110.0	111.0					20																	57474005		2203	4300	6503	SO:0001819	synonymous_variant	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57474005A>G	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.222A>G	20.37:g.57474005A>G		TSP Lung(22;0.16)				GNAS_uc002xzt.2_3'UTR|GNAS_uc002xzu.3_RNA|GNAS_uc010gjq.2_Silent_p.E15E|GNAS_uc002xzv.2_RNA|GNAS_uc002xzx.2_Silent_p.E15E|GNAS_uc010gjr.2_Intron|GNAS_uc002xzy.2_Intron|GNAS_uc002yaa.2_Intron|GNAS_uc010zzt.1_Silent_p.E74E|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_5'UTR	p.E717E	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		3	2436	+	all_lung(29;0.0104)		74					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000371085.3	37	c.2151A>G	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	A	9.015	0.983498	0.18889	.	.	ENSG00000087460	ENST00000423897	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	T	0.60444	0.2269	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58640	-0.7601	4	.	.	.	.	10.1007	0.42502	1.0:0.0:0.0:0.0	.	.	.	.	R	80	.	.	K	+	2	0	GNAS	56907400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.227000	0.42972	2.150000	0.67090	0.533000	0.62120	AAG		PASS	0.473	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		19	219	19	219	---	---	---	---
CHRNA4	1137	broad.mit.edu	37	20	61982241	61982241	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr20:61982241G>T	ENST00000370263.4	-	5	743	c.522C>A	c.(520-522)aaC>aaA	p.N174K	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	174					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.N174K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TCATGGTGCAGTTCTGCTGGT	0.602																																						uc002yes.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(520-522)AAC>AAA		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						136.0	121.0	126.0					20																	61982241		2203	4300	6503	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61982241G>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.522C>A	20.37:g.61982241G>T	ENSP00000359285:p.Asn174Lys					CHRNA4_uc002yet.1_Translation_Start_Site|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.N103K|CHRNA4_uc002yev.1_Translation_Start_Site|CHRNA4_uc010gkf.1_Translation_Start_Site	p.N174K	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	700	-	all_cancers(38;1.71e-10)		174			Extracellular (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.522C>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377444	0.82682	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.79845	-1.31	4.87	3.69	0.42338	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.043668	0.85682	D	0.000000	D	0.85279	0.5660	L	0.52011	1.625	0.58432	D	0.999999	D;P	0.64830	0.994;0.877	D;P	0.66351	0.943;0.56	D	0.87007	0.2120	10	0.87932	D	0	.	14.0192	0.64543	0.0878:0.0:0.9122:0.0	.	103;174	Q4VAQ5;P43681	.;ACHA4_HUMAN	K	80;174;103	ENSP00000359285:N174K	ENSP00000359280:N80K	N	-	3	2	CHRNA4	61452685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.706000	0.61845	2.227000	0.72691	0.561000	0.74099	AAC		PASS	0.602	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			44	152	44	152	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43519149	43519149	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr21:43519149G>T	ENST00000408910.2	+	7	1045	c.1045G>T	c.(1045-1047)Ggt>Tgt	p.G349C	UMODL1_ENST00000400427.1_Missense_Mutation_p.G277C|UMODL1_ENST00000400424.2_Missense_Mutation_p.G277C|UMODL1_ENST00000408989.2_Missense_Mutation_p.G349C	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	349	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.G277C(1)|p.G349C(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTTTACCGGGGTATGGAGTT	0.557																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1045-1047)GGT>TGT		uromodulin-like 1 isoform 1 precursor							80.0	84.0	82.0					21																	43519149		1993	4154	6147	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43519149G>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1045G>T	21.37:g.43519149G>T	ENSP00000386147:p.Gly349Cys					UMODL1_uc002zad.1_Missense_Mutation_p.G277C|UMODL1_uc002zae.1_Missense_Mutation_p.G277C|UMODL1_uc002zag.1_Missense_Mutation_p.G349C|UMODL1_uc010gow.1_Missense_Mutation_p.G141C|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.G94C	p.G349C	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			7	1045	+			349			Extracellular (Potential).|Fibronectin type-III 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1045G>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764603	0.31228	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.29	4.29	0.51040	Fibronectin, type III (2);	0.137076	0.32719	N	0.005736	T	0.57184	0.2036	L	0.32530	0.975	0.09310	N	0.999995	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.78314	0.971;0.991;0.91	T	0.51810	-0.8658	10	0.87932	D	0	-18.2471	14.5259	0.67887	0.0:0.0:1.0:0.0	.	277;349;349	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	C	277;277;349;349;195	ENSP00000383279:G277C;ENSP00000383276:G277C;ENSP00000386126:G349C;ENSP00000386147:G349C	ENSP00000369829:G195C	G	+	1	0	UMODL1	42392218	0.620000	0.27068	0.047000	0.18901	0.005000	0.04900	4.855000	0.62925	2.321000	0.78463	0.655000	0.94253	GGT		PASS	0.557	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			49	113	49	113	---	---	---	---
C21orf33	8209	broad.mit.edu	37	21	45564780	45564780	+	Silent	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr21:45564780T>C	ENST00000291577.6	+	7	849	c.756T>C	c.(754-756)caT>caC	p.H252H	C21orf33_ENST00000348499.5_Silent_p.H221H	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	252						mitochondrion (GO:0005739)		p.H252H(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		ACTACATCCATGATGGGATCG	0.582																																						uc002zec.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(754-756)CAT>CAC		es1 protein isoform Ia precursor							111.0	79.0	90.0					21																	45564780		2203	4300	6503	SO:0001819	synonymous_variant	8209					mitochondrion		g.chr21:45564780T>C	Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.756T>C	21.37:g.45564780T>C						C21orf33_uc002zed.3_Silent_p.H221H	p.H252H	NM_004649	NP_004640	P30042	ES1_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)	7	842	+			252					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000291577.6	37	c.756T>C	CCDS33580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.436|2.436	-0.329804|-0.329804	0.05314|0.05314	.|.	.|.	ENSG00000160221|ENSG00000160221	ENST00000419699|ENST00000449622	.|.	.|.	.|.	4.35|4.35	-3.83|-3.83	0.04269|0.04269	.|.	.|.	.|.	.|.	.|.	T|.	0.62624|.	0.2443|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61019|.	-0.7147|.	4|.	.|.	.|.	.|.	-14.2156|-14.2156	13.4056|13.4056	0.60911|0.60911	0.0:0.3269:0.0:0.6731|0.0:0.3269:0.0:0.6731	.|.	.|.	.|.	.|.	T|R	168|241	.|.	.|.	M|X	+|+	2|1	0|0	C21orf33|C21orf33	44389208|44389208	0.671000|0.671000	0.27521|0.27521	0.341000|0.341000	0.25589|0.25589	0.208000|0.208000	0.24298|0.24298	-0.239000|-0.239000	0.08965|0.08965	-0.874000|-0.874000	0.04027|0.04027	-0.252000|-0.252000	0.11476|0.11476	ATG|TGA		PASS	0.582	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195824.1	NM_004649		36	62	36	62	---	---	---	---
COL6A2	1292	broad.mit.edu	37	21	47551972	47551972	+	Missense_Mutation	SNP	G	G	T	rs368160013		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr21:47551972G>T	ENST00000300527.4	+	28	2670	c.2566G>T	c.(2566-2568)Gtg>Ttg	p.V856L		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	856	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.V856L(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGGCGCTTCGTGGAGCAGGT	0.706																																						uc002zia.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(1)	8						c.(2566-2568)GTG>TTG		alpha 2 type VI collagen isoform 2C2 precursor							17.0	18.0	18.0					21																	47551972		2194	4293	6487	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47551972G>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2566G>T	21.37:g.47551972G>T	ENSP00000300527:p.Val856Leu					COL6A2_uc002zib.1_Missense_Mutation_p.V262L|COL6A2_uc002zic.1_5'UTR|COL6A2_uc010gqe.1_RNA	p.V856L	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2648	+	Breast(49;0.245)		856			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2566G>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810685	0.50421	.	.	ENSG00000142173	ENST00000300527	D	0.83250	-1.7	4.18	4.18	0.49190	von Willebrand factor, type A (3);	0.248240	0.33023	N	0.005375	D	0.88058	0.6335	M	0.61703	1.905	0.80722	D	1	D	0.58620	0.983	P	0.61397	0.888	D	0.87162	0.2215	10	0.33141	T	0.24	-18.0919	16.5088	0.84279	0.0:0.0:1.0:0.0	.	856	P12110	CO6A2_HUMAN	L	856	ENSP00000300527:V856L	ENSP00000300527:V856L	V	+	1	0	COL6A2	46376400	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	4.296000	0.59055	1.891000	0.54761	0.313000	0.20887	GTG		PASS	0.706	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			7	15	7	15	---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20819581	20819581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr22:20819581G>A	ENST00000328879.4	-	4	832	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	KLHL22_ENST00000440659.2_Nonsense_Mutation_p.Q83*	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	226					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)		p.Q226*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCTGCACCTGCTCCAGGCTA	0.587																																						uc002zsl.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(676-678)CAG>TAG		kelch-like							36.0	36.0	36.0					22																	20819581		2203	4300	6503	SO:0001587	stop_gained	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819581G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.676C>T	22.37:g.20819581G>A	ENSP00000331682:p.Gln226*					KLHL22_uc011ahr.1_Nonsense_Mutation_p.Q83*|KLHL22_uc002zsm.1_Nonsense_Mutation_p.Q226*	p.Q226*	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	785	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	226					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Nonsense_Mutation	SNP	ENST00000328879.4	37	c.676C>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106067	0.94292	.	.	ENSG00000099910	ENST00000328879;ENST00000440659;ENST00000451553;ENST00000444967;ENST00000458248	.	.	.	5.32	3.06	0.35304	.	0.305164	0.36628	N	0.002482	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.0871	0.59146	0.0:0.3085:0.6914:0.0	.	.	.	.	X	226;83;149;258;226	.	ENSP00000331682:Q226X	Q	-	1	0	KLHL22	19149581	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.494000	0.45329	1.200000	0.43188	0.655000	0.94253	CAG		PASS	0.587	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		18	58	18	58	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26422656	26422656	+	Missense_Mutation	SNP	C	C	G	rs192136611		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr22:26422656C>G	ENST00000407587.2	+	43	6888	c.6719C>G	c.(6718-6720)tCg>tGg	p.S2240W	MYO18B_ENST00000536101.1_Missense_Mutation_p.S2239W|MYO18B_ENST00000335473.7_Missense_Mutation_p.S2239W			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2239						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S2240W(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCCCGCTGTCGAGGGAAAAG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18291	0.0		0.001	False		,,,				2504	0.0					uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6715-6717)TCG>TGG		myosin XVIIIB		C	TRP/SER	1,3831		0,1,1915	24.0	26.0	26.0		6716	2.3	0.0	22		26	1,8213		0,1,4106	no	missense	MYO18B	NM_032608.5	177	0,2,6021	GG,GC,CC		0.0122,0.0261,0.0166	probably-damaging	2239/2568	26422656	2,12044	1916	4107	6023	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422656C>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6719C>G	22.37:g.26422656C>G	ENSP00000386096:p.Ser2240Trp					MYO18B_uc003aca.1_Missense_Mutation_p.S2120W|MYO18B_uc010guy.1_Missense_Mutation_p.S2121W|MYO18B_uc010guz.1_Missense_Mutation_p.S2119W|MYO18B_uc011aka.1_Missense_Mutation_p.S1393W|MYO18B_uc011akb.1_Missense_Mutation_p.S1752W|MYO18B_uc010gva.1_Missense_Mutation_p.S222W|MYO18B_uc010gvb.1_RNA	p.S2239W	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	6966	+			2239					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6716C>G		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	18.35|18.35	3.603934|3.603934	0.66445|0.66445	2.61E-4|2.61E-4	1.22E-4|1.22E-4	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.87491	.|-2.24;-2.24;-2.26	4.94|4.94	2.35|2.35	0.29111|0.29111	.|.	.|0.496579	.|0.15587	.|N	.|0.254603	D|D	0.89217|0.89217	0.6652|0.6652	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	0.999999|0.999999	.|D;D;D;D;D	.|0.69078	.|0.984;0.994;0.994;0.991;0.997	.|P;P;P;P;D	.|0.63381	.|0.767;0.823;0.823;0.878;0.914	T|T	0.79322|0.79322	-0.1851|-0.1851	5|10	.|0.66056	.|D	.|0.02	.|.	8.222|8.222	0.31547|0.31547	0.0:0.7324:0.1644:0.1032|0.0:0.7324:0.1644:0.1032	.|.	.|1752;2241;2239;2240;2239	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	G|W	189|2239;2239;2240	.|ENSP00000441229:S2239W;ENSP00000334563:S2239W;ENSP00000386096:S2240W	.|ENSP00000334563:S2239W	R|S	+|+	1|2	2|0	MYO18B|MYO18B	24752656|24752656	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.779000|0.779000	0.44077|0.44077	0.299000|0.299000	0.19138|0.19138	1.030000|1.030000	0.39839|0.39839	0.491000|0.491000	0.48974|0.48974	CGA|TCG		PASS	0.612	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		13	31	13	31	---	---	---	---
GAL3ST1	9514	broad.mit.edu	37	22	30951750	30951750	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr22:30951750C>T	ENST00000402321.1	-	3	779	c.462G>A	c.(460-462)ccG>ccA	p.P154P	GAL3ST1_ENST00000443111.2_Silent_p.P154P|GAL3ST1_ENST00000406361.1_Silent_p.P154P|GAL3ST1_ENST00000401975.1_Silent_p.P154P|GAL3ST1_ENST00000406955.1_Silent_p.P154P|GAL3ST1_ENST00000402369.1_Silent_p.P154P|GAL3ST1_ENST00000338911.5_Silent_p.P154P			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	154					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.P154P(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGGCGTTGGTCGGCACCAGGC	0.652																																						uc003aig.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(460-462)CCG>CCA		galactose-3-O-sulfotransferase 1							79.0	83.0	82.0					22																	30951750		2203	4300	6503	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951750C>T	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.462G>A	22.37:g.30951750C>T						GAL3ST1_uc003aih.1_Silent_p.P154P|GAL3ST1_uc003aii.1_Silent_p.P154P|GAL3ST1_uc010gvz.1_Silent_p.P154P	p.P154P	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	602	-			154			Lumenal (Potential).		Q96C63	Silent	SNP	ENST00000402321.1	37	c.462G>A	CCDS13879.1																																																																																				PASS	0.652	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		47	141	47	141	---	---	---	---
BPIFC	254240	broad.mit.edu	37	22	32849427	32849427	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr22:32849427C>A	ENST00000397452.1	-	3	298	c.188G>T	c.(187-189)aGc>aTc	p.S63I	BPIFC_ENST00000397450.1_Missense_Mutation_p.S63I|BPIFC_ENST00000300399.3_Missense_Mutation_p.S63I|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	63						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.S63I(1)									CTCAGAACCGCTTAAATCTGG	0.328																																						uc003amn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(187-189)AGC>ATC		bactericidal/permeability-increasing							85.0	83.0	84.0					22																	32849427		2202	4300	6502	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32849427C>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.188G>T	22.37:g.32849427C>A	ENSP00000380594:p.Ser63Ile					BPIL2_uc010gwo.2_5'UTR|BPIL2_uc011amb.1_5'UTR|BPIL2_uc003amo.3_Missense_Mutation_p.S63I	p.S63I	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			2	188	-			63					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.188G>T	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	c	3.282	-0.146806	0.06627	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000397450	T;T;T	0.06218	3.33;3.33;3.51	5.39	3.27	0.37495	.	0.908726	0.09854	N	0.747135	T	0.05410	0.0143	N	0.24115	0.695	0.32746	N	0.507061	B;B	0.27117	0.168;0.002	B;B	0.28139	0.086;0.006	T	0.25779	-1.0122	10	0.44086	T	0.13	0.63	6.784	0.23664	0.0:0.1928:0.0:0.8072	.	63;63	Q5TI88;Q8NFQ6	.;BPIFC_HUMAN	I	63	ENSP00000380594:S63I;ENSP00000300399:S63I;ENSP00000380592:S63I	ENSP00000300399:S63I	S	-	2	0	BPIFC	31179427	0.156000	0.22821	0.191000	0.23289	0.031000	0.12232	0.592000	0.23984	0.448000	0.26722	-0.391000	0.06502	AGC		PASS	0.328	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		20	62	20	62	---	---	---	---
ISX	91464	broad.mit.edu	37	22	35463085	35463085	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr22:35463085G>T	ENST00000308700.6	+	1	957	c.5G>T	c.(4-6)tGt>tTt	p.C2F	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Missense_Mutation_p.C2F	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	2					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.C2F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCCTCAATGTGTGCTGAGGTG	0.617																																						uc003anj.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(4-6)TGT>TTT		intestine-specific homeobox							37.0	37.0	37.0					22																	35463085		2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35463085G>T	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.5G>T	22.37:g.35463085G>T	ENSP00000311492:p.Cys2Phe					ISX_uc011amg.1_5'UTR	p.C2F	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			1	956	+			2					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.5G>T	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438799	0.25900	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.90504	-2.68;-2.68	4.13	-3.93	0.04143	.	.	.	.	.	T	0.78597	0.4308	N	0.19112	0.55	0.09310	N	1	B	0.23185	0.081	B	0.17098	0.017	T	0.65483	-0.6157	9	0.72032	D	0.01	.	2.7641	0.05315	0.0978:0.3036:0.3604:0.2381	.	2	Q2M1V0	ISX_HUMAN	F	2	ENSP00000311492:C2F;ENSP00000386037:C2F	ENSP00000311492:C2F	C	+	2	0	ISX	33793085	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.601000	0.24119	-0.361000	0.08125	0.655000	0.94253	TGT		PASS	0.617	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		13	29	13	29	---	---	---	---
PNPLA3	80339	broad.mit.edu	37	22	44330490	44330490	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr22:44330490T>C	ENST00000216180.3	+	5	874	c.701T>C	c.(700-702)cTg>cCg	p.L234P	PNPLA3_ENST00000423180.2_Missense_Mutation_p.L230P	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	234					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.L234P(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TCACAGGTGCTGGGAGAGATA	0.493																																						uc003bei.1																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)CTG>CCG		patatin-like phospholipase domain containing 3							218.0	187.0	198.0					22																	44330490		2203	4300	6503	SO:0001583	missense	80339				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	g.chr22:44330490T>C		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.701T>C	22.37:g.44330490T>C	ENSP00000216180:p.Leu234Pro					PNPLA3_uc010gzm.1_RNA	p.L234P	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN			5	874	+		Ovarian(80;0.024)|all_neural(38;0.0416)	234			Lumenal (Potential).		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	c.701T>C	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814387	0.70912	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.81330	-1.48;-1.48	5.06	5.06	0.68205	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.202066	0.31772	N	0.007098	D	0.89090	0.6616	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	D	0.90627	0.4564	10	0.87932	D	0	-4.4295	12.7943	0.57551	0.0:0.0:0.0:1.0	.	234	Q9NST1	PLPL3_HUMAN	P	234;230	ENSP00000216180:L234P;ENSP00000397987:L230P	ENSP00000216180:L234P	L	+	2	0	PNPLA3	42661823	1.000000	0.71417	0.331000	0.25455	0.867000	0.49689	4.804000	0.62554	1.916000	0.55485	0.379000	0.24179	CTG		PASS	0.493	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		37	87	37	87	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46657974	46657974	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr22:46657974G>T	ENST00000253255.5	-	1	1245	c.1246C>A	c.(1246-1248)Ctg>Atg	p.L416M		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	416	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.L416M(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAAGTGTCAGTACAGGGCCC	0.522																																						uc003bhh.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(1246-1248)CTG>ATG		receptor for egg jelly-like protein precursor							89.0	94.0	92.0					22																	46657974		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657974G>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1246C>A	22.37:g.46657974G>T	ENSP00000253255:p.Leu416Met						p.L416M	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1246	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	416			Extracellular (Potential).|REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.1246C>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025192	0.54683	.	.	ENSG00000130943	ENST00000253255	T	0.73681	-0.77	5.06	2.92	0.33932	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.364040	0.19359	N	0.116199	T	0.79793	0.4507	L	0.47716	1.5	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.68891	-0.5289	10	0.42905	T	0.14	-8.9487	11.655	0.51313	0.1549:0.0:0.8451:0.0	.	416	Q9NTG1	PKDRE_HUMAN	M	416	ENSP00000253255:L416M	ENSP00000253255:L416M	L	-	1	2	PKDREJ	45036638	0.308000	0.24509	0.005000	0.12908	0.387000	0.30353	1.872000	0.39549	1.262000	0.44165	0.650000	0.86243	CTG		PASS	0.522	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		71	137	71	137	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3238788	3238788	+	Silent	SNP	C	C	T	rs138419461		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:3238788C>T	ENST00000217939.6	-	5	5092	c.4938G>A	c.(4936-4938)ccG>ccA	p.P1646P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1646						extracellular vesicular exosome (GO:0070062)		p.P1646P(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAGTTATTTCCGGTTTGTTGG	0.453																																						uc004crg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(4936-4938)CCG>CCA		adlican precursor		T		0,3835		0,0,1632,571	173.0	166.0	168.0		4938	-6.4	0.0	X	dbSNP_134	168	1,6727		0,1,2427,1872	no	coding-synonymous	MXRA5	NM_015419.3		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		1646/2829	3238788	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3238788C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4938G>A	X.37:g.3238788C>T							p.P1646P	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	5095	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1646					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.4938G>A	CCDS14124.1																																																																																				PASS	0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		144	438	144	438	---	---	---	---
GPR143	4935	broad.mit.edu	37	X	9728819	9728819	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:9728819C>A	ENST00000467482.1	-	2	444	c.298G>T	c.(298-300)Gac>Tac	p.D100Y	GPR143_ENST00000380929.2_Missense_Mutation_p.D120Y			P51810	GP143_HUMAN	G protein-coupled receptor 143	100					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)	p.D120Y(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GAGACGCTGTCAACAAAATTT	0.483																																						uc004cst.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(358-360)GAC>TAC		G protein-coupled receptor 143							93.0	67.0	76.0					X																	9728819		2203	4299	6502	SO:0001583	missense	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9728819C>A	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.298G>T	X.37:g.9728819C>A	ENSP00000417161:p.Asp100Tyr						p.D120Y	NM_000273	NP_000264	P51810	GP143_HUMAN			2	358	-		Hepatocellular(5;0.000888)	100			Extracellular (Potential).		Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	c.358G>T	CCDS14134.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.583|8.583	0.882687|0.882687	0.17467|0.17467	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126|ENST00000447366	D;D;D|.	0.99239|.	-5.61;-5.61;-5.61|.	4.47|4.47	3.57|3.57	0.40892|0.40892	.|.	1.056130|.	0.07349|.	N|.	0.882093|.	T|.	0.37265|.	0.0997|.	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	P|.	0.47545|.	0.897|.	P|.	0.48552|.	0.581|.	T|.	0.22382|.	-1.0218|.	10|.	0.37606|.	T|.	0.19|.	-5.3991|-5.3991	6.6846|6.6846	0.23138|0.23138	0.0:0.7183:0.179:0.1026|0.0:0.7183:0.179:0.1026	.|.	100|.	P51810|.	GP143_HUMAN|.	Y|L	100;120;16|35	ENSP00000417161:D100Y;ENSP00000370316:D120Y;ENSP00000406138:D16Y|.	ENSP00000370316:D120Y|.	D|X	-|-	1|2	0|2	GPR143|GPR143	9688819|9688819	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	0.312000|0.312000	0.19397|0.19397	0.660000|0.660000	0.30964|0.30964	0.466000|0.466000	0.42574|0.42574	GAC|TGA		PASS	0.483	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		8	12	8	12	---	---	---	---
ASB9	140462	broad.mit.edu	37	X	15268612	15268612	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:15268612G>T	ENST00000380488.4	-	5	781	c.508C>A	c.(508-510)Cca>Aca	p.P170T	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.P170T|ASB9_ENST00000380483.3_Missense_Mutation_p.P160T|ASB9_ENST00000546332.1_Missense_Mutation_p.P170T	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	170					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)		p.P170T(2)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AAATAGAGTGGAGTGCCCAGG	0.458																																						uc004cwl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(508-510)CCA>ACA		ankyrin repeat and SOCS box-containing 9 isoform							95.0	88.0	91.0					X																	15268612		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15268612G>T	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.508C>A	X.37:g.15268612G>T	ENSP00000369855:p.Pro170Thr					ASB9_uc004cwk.2_Missense_Mutation_p.P170T|ASB9_uc004cwm.2_Missense_Mutation_p.P160T|ASB9_uc010ner.2_Missense_Mutation_p.P170T|ASB9_uc004cwn.2_Missense_Mutation_p.P141T	p.P170T	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN			5	755	-	Hepatocellular(33;0.183)		170			ANK 5.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.508C>A	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953831	0.92660	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.79940	-1.32;-0.52;-0.52;-0.52	5.78	4.9	0.64082	Ankyrin repeat-containing domain (4);	0.099543	0.64402	D	0.000001	D	0.90971	0.7161	M	0.90082	3.085	0.49213	D	0.999762	D;D;D;D	0.69078	0.966;0.996;0.981;0.997	P;D;D;D	0.71656	0.873;0.974;0.937;0.957	D	0.92549	0.6048	10	0.87932	D	0	-10.2997	14.8294	0.70137	0.0:0.1406:0.8594:0.0	.	141;160;170;170	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	T	160;170;170;170	ENSP00000369850:P160T;ENSP00000369852:P170T;ENSP00000369855:P170T;ENSP00000438943:P170T	ENSP00000369850:P160T	P	-	1	0	ASB9	15178533	1.000000	0.71417	0.024000	0.17045	0.843000	0.47879	5.823000	0.69272	1.178000	0.42870	0.523000	0.50628	CCA		PASS	0.458	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			68	199	68	199	---	---	---	---
PHEX	5251	broad.mit.edu	37	X	22115098	22115098	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:22115098C>A	ENST00000379374.4	+	8	1440	c.875C>A	c.(874-876)aCc>aAc	p.T292N	PHEX_ENST00000535894.1_Missense_Mutation_p.T195N|PHEX_ENST00000537599.1_Missense_Mutation_p.T292N|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000418858.3_5'Flank	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	292					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T292N(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GAAAACCGAACCAGCGAGGCC	0.363																																						uc004dah.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(874-876)ACC>AAC		phosphate-regulating neutral endopeptidase							150.0	125.0	133.0					X																	22115098		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22115098C>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.875C>A	X.37:g.22115098C>A	ENSP00000368682:p.Thr292Asn					PHEX_uc011mjr.1_Missense_Mutation_p.T292N|PHEX_uc011mjs.1_Missense_Mutation_p.T195N	p.T292N	NM_000444	NP_000435	P78562	PHEX_HUMAN			8	1078	+			292			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.875C>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	6.554	0.470550	0.12461	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.80653	-1.4;-1.4;-1.4	5.2	5.2	0.72013	Peptidase M13 (1);	0.044980	0.85682	D	0.000000	T	0.69424	0.3109	N	0.19112	0.55	0.80722	D	1	B;B	0.25772	0.11;0.134	B;B	0.20767	0.018;0.031	T	0.64939	-0.6289	10	0.24483	T	0.36	.	18.0784	0.89435	0.0:1.0:0.0:0.0	.	292;292	F5GXU4;P78562	.;PHEX_HUMAN	N	292;292;195	ENSP00000368682:T292N;ENSP00000440362:T292N;ENSP00000439418:T195N	ENSP00000368682:T292N	T	+	2	0	PHEX	22025019	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.637000	0.61346	2.293000	0.77203	0.436000	0.28706	ACC		PASS	0.363	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		18	122	18	122	---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23019971	23019971	+	Silent	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:23019971A>T	ENST00000327968.5	+	1	1885	c.1797A>T	c.(1795-1797)gtA>gtT	p.V599V	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	599	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.V599V(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ATCTTGTAGTAATGGCTGAGC	0.388																																						uc004daj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(1795-1797)GTA>GTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							64.0	63.0	63.0					X																	23019971		2203	4300	6503	SO:0001819	synonymous_variant	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019971A>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1797A>T	X.37:g.23019971A>T							p.V599V	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	1885	+			599			Helicase C-terminal.		Q0D2N2|Q6NVV4	Silent	SNP	ENST00000327968.5	37	c.1797A>T	CCDS35214.1																																																																																				PASS	0.388	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		43	142	43	142	---	---	---	---
DCAF8L1	139425	broad.mit.edu	37	X	27998447	27998447	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:27998447G>T	ENST00000441525.1	-	1	1119	c.1005C>A	c.(1003-1005)gtC>gtA	p.V335V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	335								p.V335V(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TATACAGTCCGACTTTCTTAT	0.418																																						uc004dbx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1003-1005)GTC>GTA		DDB1 and CUL4 associated factor 8-like 1							99.0	84.0	89.0					X																	27998447		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27998447G>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1005C>A	X.37:g.27998447G>T							p.V335V	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	1120	-			335			WD 4.		B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1005C>A	CCDS35222.1																																																																																				PASS	0.418	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		49	123	49	123	---	---	---	---
DCAF8L1	139425	broad.mit.edu	37	X	27998849	27998849	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:27998849G>T	ENST00000441525.1	-	1	717	c.603C>A	c.(601-603)acC>acA	p.T201T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	201								p.T201T(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TAAAGTGTATGGTACTGACAG	0.542																																						uc004dbx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(601-603)ACC>ACA		DDB1 and CUL4 associated factor 8-like 1							35.0	27.0	30.0					X																	27998849		2202	4299	6501	SO:0001819	synonymous_variant	139425							g.chrX:27998849G>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.603C>A	X.37:g.27998849G>T							p.T201T	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	718	-			201			WD 1.		B3KXX1	Silent	SNP	ENST00000441525.1	37	c.603C>A	CCDS35222.1																																																																																				PASS	0.542	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		10	30	10	30	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31152218	31152218	+	Splice_Site	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:31152218C>A	ENST00000357033.4	-	77	11221		c.e77+1		DMD_ENST00000541735.1_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000378680.2_Splice_Site|DMD_ENST00000359836.1_Splice_Site|DMD_ENST00000378723.3_Splice_Site|DMD_ENST00000378702.4_Splice_Site|DMD_ENST00000361471.4_Splice_Site|DMD_ENST00000343523.2_Splice_Site|DMD_ENST00000378677.2_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.?(6)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGGAGCTTACCTCTTGAACT	0.498																																						uc004dda.1																			6	Unknown(6)		lung(6)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.e77+1		dystrophin Dp427m isoform							194.0	120.0	145.0					X																	31152218		2202	4300	6502	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31152218C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.11014+1G>T	X.37:g.31152218C>A						DMD_uc004dcq.1_Splice_Site_p.G943_splice|DMD_uc004dcr.1_Splice_Site_p.G1092_splice|DMD_uc004dcs.1_Splice_Site_p.G1102_splice|DMD_uc004dct.1_Splice_Site_p.G1212_splice|DMD_uc004dcu.1_Splice_Site_p.G1212_splice|DMD_uc004dcv.1_Splice_Site_p.G1199_splice|DMD_uc004dcw.2_Splice_Site_p.G2328_splice|DMD_uc004dcx.2_Splice_Site_p.G2331_splice|DMD_uc004dcz.2_Splice_Site_p.G3549_splice|DMD_uc004dcy.1_Splice_Site_p.G3668_splice|DMD_uc004ddb.1_Splice_Site_p.G3664_splice|DMD_uc004dcm.1_Splice_Site_p.G604_splice|DMD_uc004dcn.1_Splice_Site_p.G591_splice|DMD_uc004dco.1_Splice_Site_p.G604_splice|DMD_uc004dcp.1_Splice_Site_p.G591_splice|DMD_uc011mkb.1_Splice_Site_p.G494_splice	p.G3672_splice	NM_004006	NP_003997	P11532	DMD_HUMAN			77	11258	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)						E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	c.11014_splice	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196588	0.79015	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000465285;ENST00000474231;ENST00000361471;ENST00000378680	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7643	0.88473	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMD	31062139	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.741000	0.68638	2.470000	0.83445	0.600000	0.82982	.		PASS	0.498	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Intron	35	91	35	91	---	---	---	---
SYTL5	94122	broad.mit.edu	37	X	37913508	37913508	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:37913508G>T	ENST00000357972.5	+	3	708	c.162G>T	c.(160-162)ggG>ggT	p.G54G	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Silent_p.G54G|SYTL5_ENST00000297875.2_Silent_p.G54G			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	54	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.G54G(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GTAGAAGTGGGAAAACTCAAC	0.438																																						uc004ddu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(160-162)GGG>GGT		synaptotagmin-like 5 isoform 1							80.0	69.0	73.0					X																	37913508		2202	4300	6502	SO:0001819	synonymous_variant	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37913508G>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.162G>T	X.37:g.37913508G>T						SYTL5_uc004ddv.2_Silent_p.G54G|SYTL5_uc004ddx.2_Silent_p.G54G	p.G54G	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			4	696	+			54			RabBD.		A2RRF2	Silent	SNP	ENST00000357972.5	37	c.162G>T	CCDS14244.1																																																																																				PASS	0.438	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		23	72	23	72	---	---	---	---
SYTL5	94122	broad.mit.edu	37	X	37913589	37913589	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:37913589T>A	ENST00000357972.5	+	3	789	c.243T>A	c.(241-243)tgT>tgA	p.C81*	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Nonsense_Mutation_p.C81*|SYTL5_ENST00000297875.2_Nonsense_Mutation_p.C81*			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	81	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.C81*(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GAGACCCTTGTCAGGCTTGCT	0.512																																						uc004ddu.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(241-243)TGT>TGA		synaptotagmin-like 5 isoform 1							93.0	80.0	85.0					X																	37913589		2202	4300	6502	SO:0001587	stop_gained	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37913589T>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.243T>A	X.37:g.37913589T>A	ENSP00000350657:p.Cys81*					SYTL5_uc004ddv.2_Nonsense_Mutation_p.C81*|SYTL5_uc004ddx.2_Nonsense_Mutation_p.C81*	p.C81*	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			4	777	+			81			FYVE-type.|RabBD.		A2RRF2	Nonsense_Mutation	SNP	ENST00000357972.5	37	c.243T>A	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	T	41	8.607488	0.98884	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	.	.	.	5.73	3.02	0.34903	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7635	10.1503	0.42788	0.0:0.775:0.0:0.225	.	.	.	.	X	81	.	ENSP00000297875:C81X	C	+	3	2	SYTL5	37798533	0.999000	0.42202	0.866000	0.34008	0.602000	0.36980	1.754000	0.38369	0.202000	0.20498	-0.299000	0.09455	TGT		PASS	0.512	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		9	213	9	213	---	---	---	---
NYX	60506	broad.mit.edu	37	X	41333968	41333968	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:41333968T>A	ENST00000342595.2	+	2	1718	c.1262T>A	c.(1261-1263)cTg>cAg	p.L421Q	NYX_ENST00000378220.1_Missense_Mutation_p.L421Q	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	421					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.L421Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						TCCAAGCTGCTGGCCCCGAGG	0.711																																						uc004dfh.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1261-1263)CTG>CAG		nyctalopin precursor							13.0	14.0	13.0					X																	41333968		2177	4264	6441	SO:0001583	missense	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333968T>A	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1262T>A	X.37:g.41333968T>A	ENSP00000340328:p.Leu421Gln					NYX_uc011mku.1_Missense_Mutation_p.L416Q	p.L421Q	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN			2	1692	+			421					D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	ENST00000342595.2	37	c.1262T>A	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.649275	0.67358	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.62788	-0.0;-0.0	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000003	T	0.73016	0.3533	L	0.48642	1.525	0.45515	D	0.998477	D	0.89917	1.0	D	0.71184	0.972	T	0.74589	-0.3615	10	0.54805	T	0.06	.	14.9507	0.71071	0.0:0.0:0.0:1.0	.	421	Q9GZU5	NYX_HUMAN	Q	421	ENSP00000340328:L421Q;ENSP00000367465:L421Q	ENSP00000340328:L421Q	L	+	2	0	NYX	41218912	1.000000	0.71417	0.998000	0.56505	0.782000	0.44232	4.154000	0.58125	1.913000	0.55393	0.486000	0.48141	CTG		PASS	0.711	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		5	13	5	13	---	---	---	---
EBP	10682	broad.mit.edu	37	X	48386663	48386663	+	Missense_Mutation	SNP	C	C	A	rs141925556	byFrequency	TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:48386663C>A	ENST00000495186.1	+	5	1334	c.511C>A	c.(511-513)Cgc>Agc	p.R171S	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	171					cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)	p.R171S(1)|p.R171C(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	GACAGAGCACCGCGACGGATT	0.572																																					Ovarian(41;550 1000 33077 33474 52335)	uc004djx.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(511-513)CGC>AGC		emopamil binding protein (sterol isomerase)							124.0	84.0	97.0					X																	48386663		2203	4300	6503	SO:0001583	missense	10682				cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity	g.chrX:48386663C>A	Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"""3-beta-hydroxysteroid-delta-8,delta-7-isomerase"", ""Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)"", ""sterol 8-isomerase"""	300205	"""emopamil-binding protein (sterol isomerase)"""	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.511C>A	X.37:g.48386663C>A	ENSP00000417052:p.Arg171Ser					EBP_uc004djy.3_Missense_Mutation_p.R171S|EBP_uc004djz.2_Missense_Mutation_p.R171S	p.R171S	NM_006579	NP_006570	Q15125	EBP_HUMAN			5	716	+			171					Q6FGL3|Q6IBI9	Missense_Mutation	SNP	ENST00000495186.1	37	c.511C>A	CCDS14300.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670494	0.29693	.	.	ENSG00000147155	ENST00000495186	D	0.97870	-4.58	5.57	2.76	0.32466	.	0.497349	0.21659	N	0.071058	D	0.97604	0.9215	M	0.78049	2.395	0.09310	N	1	D	0.56521	0.976	P	0.56398	0.797	D	0.93323	0.6694	9	.	.	.	-0.2063	7.076	0.25205	0.3041:0.6119:0.0:0.084	.	171	Q15125	EBP_HUMAN	S	171	ENSP00000417052:R171S	.	R	+	1	0	EBP	48271607	0.854000	0.29725	0.000000	0.03702	0.016000	0.09150	2.435000	0.44811	0.142000	0.18901	-0.360000	0.07572	CGC		PASS	0.572	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083372.1	NM_006579		18	50	18	50	---	---	---	---
PIM2	11040	broad.mit.edu	37	X	48775872	48775872	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:48775872G>T	ENST00000376509.4	-	2	301	c.112C>A	c.(112-114)Ctg>Atg	p.L38M		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	38	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L38M(1)		lung(3)|stomach(1)	4						CCCTTACCCAGGAGGGGGCCG	0.657																																						uc004dls.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)	4						c.(112-114)CTG>ATG		serine/threonine protein kinase pim-2							36.0	33.0	34.0					X																	48775872		2203	4300	6503	SO:0001583	missense	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48775872G>T	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.112C>A	X.37:g.48775872G>T	ENSP00000365692:p.Leu38Met						p.L38M	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN			2	414	-			38			Protein kinase.|ATP (By similarity).		A8K4G6|Q99739	Missense_Mutation	SNP	ENST00000376509.4	37	c.112C>A	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014509	0.75161	.	.	ENSG00000102096	ENST00000376509	T	0.26067	1.76	4.34	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000027	T	0.50735	0.1633	M	0.85099	2.735	0.52099	D	0.999948	D	0.76494	0.999	D	0.75484	0.986	T	0.54022	-0.8355	10	0.87932	D	0	.	8.8774	0.35354	0.1105:0.0:0.8895:0.0	.	38	Q9P1W9	PIM2_HUMAN	M	38	ENSP00000365692:L38M	ENSP00000365692:L38M	L	-	1	2	PIM2	48660816	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.075000	0.71261	0.961000	0.38030	0.544000	0.68410	CTG		PASS	0.657	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			27	45	27	45	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48896775	48896775	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:48896775G>T	ENST00000315869.7	-	3	650	c.391C>A	c.(391-393)Cgt>Agt	p.R131S	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	131					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R131S(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CGACGCTCACGCCTCTCCTGC	0.662			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	uc004dmb.3				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	2	Substitution - Missense(2)		lung(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.(391-393)CGT>AGT		transcription factor E3							21.0	20.0	21.0					X																	48896775		2202	4295	6497	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48896775G>T	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.391C>A	X.37:g.48896775G>T	ENSP00000314129:p.Arg131Ser					TFE3_uc004dmc.3_Missense_Mutation_p.R26S|TFE3_uc004dme.1_RNA	p.R131S	NM_006521	NP_006512	P19532	TFE3_HUMAN			3	629	-			131					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.391C>A	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754237	0.49362	.	.	ENSG00000068323	ENST00000315869	T	0.21361	2.01	5.36	3.52	0.40303	.	0.060601	0.64402	D	0.000002	T	0.18676	0.0448	M	0.64997	1.995	0.47511	D	0.999449	P	0.36199	0.543	B	0.31686	0.134	T	0.03166	-1.1065	10	0.49607	T	0.09	-0.72	7.1741	0.25734	0.0918:0.0:0.7409:0.1674	.	131	P19532	TFE3_HUMAN	S	131	ENSP00000314129:R131S	ENSP00000314129:R131S	R	-	1	0	TFE3	48783719	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	2.707000	0.47143	1.030000	0.39839	0.513000	0.50165	CGT		PASS	0.662	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		11	11	11	11	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49087004	49087004	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:49087004G>A	ENST00000376265.2	-	5	650	c.589C>T	c.(589-591)Cca>Tca	p.P197S	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P197S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P132S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	197					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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.P197S(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGCCTCCTGGCTTTCCCCCG	0.697																																						uc004dnb.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(589-591)CCA>TCA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						29.0	27.0	28.0					X																	49087004		2199	4297	6496	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49087004G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.589C>T	X.37:g.49087004G>A	ENSP00000365441:p.Pro197Ser					CACNA1F_uc010nip.2_Missense_Mutation_p.P197S	p.P197S	NM_005183	NP_005174	O60840	CAC1F_HUMAN			5	651	-			197			I.|Extracellular (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.589C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	4.511	0.094867	0.08681	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97161	-4.27;-4.27;-4.27	4.03	4.03	0.46877	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.37750	1.13	0.39071	D	0.960722	B;B	0.24963	0.094;0.115	B;B	0.23419	0.027;0.046	D	0.91185	0.4979	10	0.11485	T	0.65	.	14.3437	0.66646	0.0:0.0:1.0:0.0	.	197;197	F5CIQ9;O60840	.;CAC1F_HUMAN	S	132;197;197	ENSP00000365427:P132S;ENSP00000321618:P197S;ENSP00000365441:P197S	ENSP00000321618:P197S	P	-	1	0	CACNA1F	48973948	1.000000	0.71417	0.946000	0.38457	0.572000	0.35998	2.580000	0.46068	1.601000	0.50113	0.287000	0.19450	CCA		PASS	0.697	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		6	20	6	20	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50090771	50090771	+	Nonsense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:50090771C>G	ENST00000376042.1	+	11	4255	c.3957C>G	c.(3955-3957)taC>taG	p.Y1319*	CCNB3_ENST00000348603.2_Nonsense_Mutation_p.Y215*|CCNB3_ENST00000276014.7_Nonsense_Mutation_p.Y1319*|CCNB3_ENST00000376038.1_Nonsense_Mutation_p.Y215*			Q8WWL7	CCNB3_HUMAN	cyclin B3	1319					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.Y1319*(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGCTCGGATACTGGGTAAACA	0.502																																						uc004dox.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(3955-3957)TAC>TAG		cyclin B3 isoform 3							58.0	45.0	49.0					X																	50090771		2203	4300	6503	SO:0001587	stop_gained	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50090771C>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3957C>G	X.37:g.50090771C>G	ENSP00000365210:p.Tyr1319*					CCNB3_uc004doy.2_Nonsense_Mutation_p.Y1319*|CCNB3_uc004doz.2_Nonsense_Mutation_p.Y215*|CCNB3_uc010njq.2_Nonsense_Mutation_p.Y211*|CCNB3_uc004dpa.2_Nonsense_Mutation_p.Y158*	p.Y1319*	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			11	4255	+	Ovarian(276;0.236)		1319					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Nonsense_Mutation	SNP	ENST00000376042.1	37	c.3957C>G	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201971	0.58234	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	.	.	.	4.96	-0.369	0.12534	.	2.345980	0.01985	N	0.045084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4502	0.11617	0.2196:0.4498:0.0:0.3306	.	.	.	.	X	1319;215;215;1319	.	.	Y	+	3	2	CCNB3	50107511	0.219000	0.23619	0.000000	0.03702	0.013000	0.08279	-0.497000	0.06428	-0.124000	0.11724	-0.319000	0.08680	TAC		PASS	0.502	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			13	54	13	54	---	---	---	---
TSPYL2	64061	broad.mit.edu	37	X	53112249	53112250	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:53112249_53112250GG>TT	ENST00000375442.4	+	1	701_702	c.569_570GG>TT	c.(568-570)cGG>cTT	p.R190L		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	190	Arg-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)	p.R190L(2)|p.R190R(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						aggaggcggcggcggcggcgga	0.574																																						uc004drw.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(568-570)CGG>CTG|c.(568-570)CGG>CGT		TSPY-like 2																																				SO:0001583	missense	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53112249G>T|g.chrX:53112250G>T	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	Exception_encountered	X.37:g.53112249_53112250delinsTT	ENSP00000364591:p.Arg190Leu					TSPYL2_uc004drv.2_Missense_Mutation_p.R190L|TSPYL2_uc004drx.1_5'Flank|TSPYL2_uc004drv.2_Silent_p.R190R|TSPYL2_uc004drx.1_5'Flank	p.R190L|p.R190R	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN			1	701|702	+			190			Arg-rich.		O94799|Q96DG7|Q9BZW6	Missense_Mutation|Silent	SNP	ENST00000375442.4	37	c.569G>T|c.570G>T	CCDS14350.1																																																																																				PASS	0.574	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		11	19	11	19	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53574688	53574689	+	Missense_Mutation	DNP	CG	CG	AA	rs369048914		TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:53574688_53574689CG>AA	ENST00000342160.3	-	67	11038_11039	c.10581_10582CG>TT	c.(10579-10584)gtCGta>gtTTta	p.V3528L	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.V3528L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3528	Thr-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.V3528L(2)|p.V3418L(2)|p.V3527V(1)|p.V3417V(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAGCAGCTACGACAATGGTGG	0.579																																						uc004dsp.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(10582-10584)GTA>TTA|c.(10579-10581)GTC>GTT		HECT, UBA and WWE domain containing 1																																				SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53574688C>A|g.chrX:53574689G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10581_10582delinsAA	X.37:g.53574688_53574689delinsAA	ENSP00000340648:p.Val3528Leu					HUWE1_uc004dsn.2_Missense_Mutation_p.V2336L|HUWE1_uc004dsq.1_5'Flank|HUWE1_uc004dsn.2_Silent_p.V2335V|HUWE1_uc004dsq.1_5'Flank	p.V3528L|p.V3527V	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			68	10984|10983	-			3528|3527			Thr-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation|Silent	SNP	ENST00000342160.3	37	c.10582G>T|c.10581C>T	CCDS35301.1																																																																																				PASS	0.579	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		15|16	51|50	15	50	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54276065	54276065	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:54276065G>T	ENST00000375159.2	-	16	2715	c.2716C>A	c.(2716-2718)Cca>Aca	p.P906T	WNK3_ENST00000354646.2_Missense_Mutation_p.P906T|WNK3_ENST00000375169.3_Missense_Mutation_p.P906T			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	906					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P906T(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTGTTTTTTGGACCTGGAACA	0.408																																						uc004dtd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(2716-2718)CCA>ACA		WNK lysine deficient protein kinase 3 isoform 2							66.0	69.0	68.0					X																	54276065		2202	4251	6453	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54276065G>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2716C>A	X.37:g.54276065G>T	ENSP00000364301:p.Pro906Thr					WNK3_uc004dtc.1_Missense_Mutation_p.P906T	p.P906T	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			17	3155	-			906					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.2716C>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	7.817	0.716858	0.15306	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.28454	1.61;1.61;1.61	5.02	-0.548	0.11833	.	1.352420	0.05061	N	0.479872	T	0.19485	0.0468	N	0.24115	0.695	0.09310	N	1	B;B	0.24483	0.082;0.104	B;B	0.21708	0.036;0.024	T	0.24548	-1.0157	10	0.29301	T	0.29	2.5997	5.4782	0.16708	0.2454:0.2947:0.4599:0.0	.	906;906	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	T	906	ENSP00000364312:P906T;ENSP00000346667:P906T;ENSP00000364301:P906T	ENSP00000346667:P906T	P	-	1	0	WNK3	54292790	1.000000	0.71417	0.944000	0.38274	0.714000	0.41099	0.495000	0.22483	-0.068000	0.12953	0.544000	0.68410	CCA		PASS	0.408	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		69	185	69	185	---	---	---	---
FGD1	2245	broad.mit.edu	37	X	54481902	54481902	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:54481902C>A	ENST00000375135.3	-	12	2727	c.1994G>T	c.(1993-1995)cGc>cTc	p.R665L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	665	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R665L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCGAGGGAGCGCTGCTTTCC	0.557																																						uc004dtg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1993-1995)CGC>CTC		faciogenital dysplasia protein							120.0	87.0	98.0					X																	54481902		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54481902C>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1994G>T	X.37:g.54481902C>A	ENSP00000364277:p.Arg665Leu					FGD1_uc011moi.1_Missense_Mutation_p.R423L	p.R665L	NM_004463	NP_004454	P98174	FGD1_HUMAN			12	2728	-			665			PH 1.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1994G>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689899	0.88735	.	.	ENSG00000102302	ENST00000375135	D	0.89050	-2.46	5.01	5.01	0.66863	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.52532	D	0.000076	D	0.95156	0.8430	M	0.89414	3.03	0.52501	D	0.999955	D;D	0.76494	0.998;0.999	D;D	0.78314	0.991;0.988	D	0.96004	0.8996	10	0.87932	D	0	-6.9391	16.1456	0.81563	0.0:1.0:0.0:0.0	.	423;665	B4DS99;P98174	.;FGD1_HUMAN	L	665	ENSP00000364277:R665L	ENSP00000364277:R665L	R	-	2	0	FGD1	54498627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.476000	0.66793	2.328000	0.79073	0.600000	0.82982	CGC		PASS	0.557	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		18	71	18	71	---	---	---	---
PFKFB1	5207	broad.mit.edu	37	X	54984739	54984740	+	Splice_Site	DNP	CC	CC	AA			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:54984739_54984740CC>AA	ENST00000375006.3	-	6	585_586	c.515_516GG>TT	c.(514-516)aGG>aTT	p.R172I	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Splice_Site_p.R107I	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	172	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.R172M(1)|p.R172I(1)|p.R172S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGGTCCTTACCCTGATGTTTTC	0.396																																						uc004dty.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(514-516)AGG>AGT|c.(514-516)AGG>ATG		6-phosphofructo-2-kinase/fructose-2,																																				SO:0001630	splice_region_variant	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54984739C>A|g.chrX:54984740C>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.515_516delinsAA	X.37:g.54984739_54984740delinsAA						PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.R107S|PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.R107M	p.R172S|p.R172M	NM_002625	NP_002616	P16118	F261_HUMAN			6	587|586	-			172			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.516G>T|c.515G>T	CCDS14364.1																																																																																				PASS	0.396	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		Missense_Mutation	42|43	121	42	121	---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57935969	57935969	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:57935969C>A	ENST00000358697.4	-	1	1098	c.886G>T	c.(886-888)Ggc>Tgc	p.G296C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	296	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G296C(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGCCTCTGGCCCTGGCTGCTG	0.632																																						uc004dve.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(886-888)GGC>TGC		zinc finger, X-linked, duplicated A							15.0	15.0	15.0					X																	57935969		2200	4290	6490	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935969C>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.886G>T	X.37:g.57935969C>A	ENSP00000351530:p.Gly296Cys						p.G296C	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1099	-			296			Required for interaction with ZXDC.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.886G>T	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	16.27	3.074936	0.55646	.	.	ENSG00000198205	ENST00000358697	T	0.36520	1.25	3.35	2.46	0.29980	Zinc finger, C2H2 (1);	0.057251	0.64402	D	0.000002	T	0.57755	0.2075	M	0.83012	2.62	0.49915	D	0.999831	D	0.89917	1.0	D	0.76071	0.987	T	0.58831	-0.7567	9	.	.	.	.	9.1454	0.36930	0.219:0.781:0.0:0.0	.	296	P98168	ZXDA_HUMAN	C	296	ENSP00000351530:G296C	.	G	-	1	0	ZXDA	57952694	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.749000	0.26320	0.771000	0.33359	0.415000	0.27848	GGC		PASS	0.632	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		11	34	11	34	---	---	---	---
AMER1	139285	broad.mit.edu	37	X	63411079	63411079	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:63411079C>G	ENST00000330258.3	-	2	2360	c.2088G>C	c.(2086-2088)agG>agC	p.R696S	AMER1_ENST00000403336.1_Missense_Mutation_p.R696S|AMER1_ENST00000374869.3_Missense_Mutation_p.R696S	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	696					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.R696S(2)									GACGGAAGTCCCTCCAGTCTG	0.552																																						uc004dvo.2																			69	Whole gene deletion(67)|Substitution - Missense(2)	p.0?(40)	kidney(65)|lung(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(2086-2088)AGG>AGC		family with sequence similarity 123B							45.0	41.0	43.0					X																	63411079		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63411079C>G	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2088G>C	X.37:g.63411079C>G	ENSP00000329117:p.Arg696Ser						p.R696S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	2361	-			696					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2088G>C	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794122	0.31777	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.46063	0.91;0.88;0.91	5.32	2.62	0.31277	.	0.089324	0.49916	D	0.000135	T	0.34164	0.0888	L	0.51422	1.61	0.30417	N	0.778484	D	0.57257	0.979	P	0.47528	0.549	T	0.25572	-1.0128	10	0.21014	T	0.42	-19.1707	3.0839	0.06271	0.1891:0.4576:0.0:0.3534	.	696	Q5JTC6	F123B_HUMAN	S	696	ENSP00000364003:R696S;ENSP00000329117:R696S;ENSP00000384722:R696S	ENSP00000329117:R696S	R	-	3	2	FAM123B	63327804	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.603000	0.36794	0.723000	0.32274	-0.208000	0.12717	AGG		PASS	0.552	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		32	101	32	101	---	---	---	---
ASB12	142689	broad.mit.edu	37	X	63444978	63444978	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:63444978G>T	ENST00000396130.2	-	1	525	c.526C>A	c.(526-528)Ctc>Atc	p.L176I	ASB12_ENST00000362002.2_Missense_Mutation_p.L185I|MTMR8_ENST00000453546.1_Missense_Mutation_p.L560I			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	176					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.L176I(1)|p.L185I(1)|p.L560I(1)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GCCAAATAGAGGGGGCCAGAA	0.557																																						uc011mou.1																			5	Substitution - Missense(3)|Whole gene deletion(2)		lung(3)|ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1678-1680)CTC>ATC		myotubularin related protein 8							73.0	66.0	69.0					X																	63444978		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444978G>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.526C>A	X.37:g.63444978G>T	ENSP00000379435:p.Leu176Ile					ASB12_uc004dvp.1_Missense_Mutation_p.L176I|ASB12_uc004dvq.1_Missense_Mutation_p.L185I|ASB12_uc004dvr.1_Missense_Mutation_p.L185I	p.L560I	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	1746	-			Error:Variant_position_missing_in_Q96EF0_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1678C>A		.	.	.	.	.	.	.	.	.	.	G	18.22	3.576011	0.65878	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	D;D;D	0.90900	-2.75;-2.75;-2.75	3.82	3.82	0.43975	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	M	0.81497	2.545	0.23886	N	0.99656	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.995	D	0.86667	0.1908	10	0.62326	D	0.03	-16.7191	8.0598	0.30627	0.1187:0.0:0.8813:0.0	.	560;176	B4DQL0;Q8WXK4	.;ASB12_HUMAN	I	185;176;185;560	ENSP00000355195:L185I;ENSP00000379435:L176I;ENSP00000394003:L560I	ENSP00000354626:L185I	L	-	1	0	ASB12;MTMR8	63361703	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.677000	0.61634	1.901000	0.55032	0.468000	0.43344	CTC		PASS	0.557	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				24	71	24	71	---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63488508	63488508	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:63488508G>T	ENST00000374852.3	-	14	2091	c.2024C>A	c.(2023-2025)gCc>gAc	p.A675D	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	675						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)|p.A675D(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAAACCCCTGGCCTCAGAAAT	0.542													G|||	1	0.000264901	0.0	0.0014	3775	,	,		13220	0.0		0.0	False		,,,				2504	0.0					uc004dvs.2																			3	Whole gene deletion(2)|Substitution - Missense(1)		ovary(1)|lung(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(2023-2025)GCC>GAC		myotubularin related protein 8							68.0	64.0	65.0					X																	63488508		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63488508G>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.2024C>A	X.37:g.63488508G>T	ENSP00000363985:p.Ala675Asp					MTMR8_uc011mou.1_Intron	p.A675D	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			14	2092	-			675					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.2024C>A	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522602	0.27211	.	.	ENSG00000102043	ENST00000374852;ENST00000247400	D	0.94232	-3.38	2.55	-1.14	0.09741	.	.	.	.	.	T	0.81884	0.4917	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68435	-0.5409	9	0.35671	T	0.21	.	4.864	0.13598	0.0:0.351:0.2513:0.3977	.	675	Q96EF0	MTMR8_HUMAN	D	675;561	ENSP00000363985:A675D	ENSP00000247400:A561D	A	-	2	0	MTMR8	63405233	0.000000	0.05858	0.000000	0.03702	0.489000	0.33432	-0.719000	0.04974	-0.374000	0.07967	0.513000	0.50165	GCC		PASS	0.542	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		62	140	62	140	---	---	---	---
VSIG4	11326	broad.mit.edu	37	X	65252573	65252573	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:65252573G>T	ENST00000374737.4	-	3	539	c.431C>A	c.(430-432)aCa>aAa	p.T144K	VSIG4_ENST00000455586.2_Missense_Mutation_p.T144K|VSIG4_ENST00000412866.2_Intron	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	144	Ig-like 2.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T144K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTTGTCACTGTGGGCTTGGA	0.507																																						uc004dwh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)ACA>AAA		V-set and immunoglobulin domain containing 4							46.0	39.0	41.0					X																	65252573		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65252573G>T	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.431C>A	X.37:g.65252573G>T	ENSP00000363869:p.Thr144Lys					VSIG4_uc004dwi.2_Intron|VSIG4_uc010nkq.1_Missense_Mutation_p.T144K|VSIG4_uc004dwj.2_Missense_Mutation_p.T144K|VSIG4_uc011moy.1_Intron|VSIG4_uc004dwk.2_Missense_Mutation_p.T144K|VSIG4_uc004dwl.2_Missense_Mutation_p.T40K	p.T144K	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			3	558	-			144			Ig-like 2.|Extracellular (Potential).		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.431C>A	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.48|14.48	2.548586|2.548586	0.45383|0.45383	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000423830	.|T;T;T	.|0.02890	.|4.12;4.12;4.18	3.91|3.91	1.95|1.95	0.26073|0.26073	.|Immunoglobulin-like (1);	.|0.733633	.|0.12549	.|N	.|0.459189	T|T	0.05823|0.05823	0.0152|0.0152	L|L	0.35542|0.35542	1.07|1.07	0.24740|0.24740	N|N	0.993047|0.993047	.|P;D;B;P	.|0.76494	.|0.627;0.999;0.446;0.677	.|B;D;P;B	.|0.67231	.|0.295;0.95;0.546;0.241	T|T	0.44544|0.44544	-0.9321|-0.9321	5|10	.|0.29301	.|T	.|0.29	0.0346|0.0346	5.2107|5.2107	0.15314|0.15314	0.1339:0.2124:0.6537:0.0|0.1339:0.2124:0.6537:0.0	.|.	.|144;67;134;144	.|Q9Y279-2;C9JTJ4;C9JH67;Q9Y279	.|.;.;.;VSIG4_HUMAN	Q|K	70|144;144;67	.|ENSP00000363869:T144K;ENSP00000411581:T144K;ENSP00000414594:T67K	.|ENSP00000363869:T144K	H|T	-|-	3|2	2|0	VSIG4|VSIG4	65169298|65169298	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.730000|0.730000	0.41778|0.41778	0.930000|0.930000	0.28858|0.28858	1.551000|1.551000	0.49450|0.49450	0.506000|0.506000	0.49869|0.49869	CAC|ACA		PASS	0.507	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		10	55	10	55	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67937247	67937247	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:67937247G>T	ENST00000252336.6	+	5	623	c.251G>T	c.(250-252)aGc>aTc	p.S84I	STARD8_ENST00000374597.3_Missense_Mutation_p.S84I|STARD8_ENST00000374599.3_Missense_Mutation_p.S164I	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	84					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.S84I(2)|p.S164I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATCACCGTGAGCCTACCACCC	0.682																																						uc004dxa.2																			3	Substitution - Missense(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(250-252)AGC>ATC		StAR-related lipid transfer (START) domain							59.0	45.0	50.0					X																	67937247		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937247G>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.251G>T	X.37:g.67937247G>T	ENSP00000252336:p.Ser84Ile					STARD8_uc004dxb.2_Missense_Mutation_p.S164I|STARD8_uc004dxc.3_Missense_Mutation_p.S84I	p.S84I	NM_014725	NP_055540	Q92502	STAR8_HUMAN			5	623	+			84					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.251G>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	g	9.996	1.232188	0.22626	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08807	3.05;3.07;3.05	4.23	2.35	0.29111	.	0.293257	0.34986	N	0.003540	T	0.07999	0.0200	L	0.57536	1.79	0.09310	N	0.999997	B;B	0.17268	0.021;0.007	B;B	0.21360	0.034;0.015	T	0.30650	-0.9971	10	0.62326	D	0.03	.	1.8333	0.03134	0.1253:0.2127:0.4712:0.1907	.	164;84	Q92502-2;Q92502	.;STAR8_HUMAN	I	84;164;84	ENSP00000252336:S84I;ENSP00000363727:S164I;ENSP00000363725:S84I	ENSP00000252336:S84I	S	+	2	0	STARD8	67853972	0.929000	0.31497	0.690000	0.30148	0.056000	0.15407	1.445000	0.35079	0.810000	0.34279	-0.195000	0.12781	AGC		PASS	0.682	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		7	46	7	46	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70613229	70613229	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:70613229C>T	ENST00000373790.4	+	21	3178	c.3127C>T	c.(3127-3129)Ccc>Tcc	p.P1043S	TAF1_ENST00000449580.1_Missense_Mutation_p.P1043S|TAF1_ENST00000423759.1_Missense_Mutation_p.P1064S|TAF1_ENST00000276072.3_Missense_Mutation_p.P1064S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1043					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P1043S(1)|p.P1064S(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGAGAGGGGCCCATGAGTAA	0.478																																						uc004dzu.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(3127-3129)CCC>TCC		TBP-associated factor 1 isoform 2							127.0	114.0	118.0					X																	70613229		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70613229C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3127C>T	X.37:g.70613229C>T	ENSP00000362895:p.Pro1043Ser					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.P1064S|TAF1_uc004dzv.3_Missense_Mutation_p.P217S	p.P1043S	NM_138923	NP_620278	P21675	TAF1_HUMAN			21	3178	+	Renal(35;0.156)	all_lung(315;0.000321)	1043					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3127C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	13.17	2.156278	0.38021	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.07908	3.15;3.21;3.2;3.15	5.68	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	N	0.20986	0.625	0.58432	D	0.999999	B;B;B	0.24882	0.113;0.038;0.064	B;B;B	0.30251	0.054;0.024;0.113	T	0.28964	-1.0027	10	0.44086	T	0.13	.	14.5413	0.67997	0.1467:0.8533:0.0:0.0	.	1043;1043;1064	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	S	1043;1043;1064;1064	ENSP00000362895:P1043S;ENSP00000389000:P1043S;ENSP00000406549:P1064S;ENSP00000276072:P1064S	ENSP00000276072:P1064S	P	+	1	0	TAF1	70529954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.489000	0.66875	2.394000	0.81467	0.600000	0.82982	CCC		PASS	0.478	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		52	127	52	127	---	---	---	---
OGT	8473	broad.mit.edu	37	X	70784604	70784604	+	Splice_Site	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:70784604G>T	ENST00000373719.3	+	19	2806		c.e19+1		OGT_ENST00000373701.3_Splice_Site	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase						apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.?(2)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTGGGCAAACGTGAGTATGCA	0.408																																						uc004eaa.1																			2	Unknown(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.e19+1		O-linked GlcNAc transferase isoform 1							117.0	102.0	107.0					X																	70784604		2203	4300	6503	SO:0001630	splice_region_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70784604G>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2589+1G>T	X.37:g.70784604G>T						BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Splice_Site_p.N853_splice|OGT_uc004eac.2_Splice_Site_p.N724_splice|OGT_uc004ead.2_Splice_Site_p.N482_splice	p.N863_splice	NM_181672	NP_858058	O15294	OGT1_HUMAN			19	2806	+	Renal(35;0.156)							Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Splice_Site	SNP	ENST00000373719.3	37	c.2589_splice	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971038	0.53614	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7407	0.88406	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OGT	70701329	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.774000	0.98992	2.208000	0.71279	0.422000	0.28245	.		PASS	0.408	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	Intron	47	142	47	142	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938690	76938690	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:76938690C>A	ENST00000373344.5	-	9	2272	c.2058G>T	c.(2056-2058)aaG>aaT	p.K686N	ATRX_ENST00000395603.3_Missense_Mutation_p.K648N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	686					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.K686N(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						TTTGTTTCTCCTTAACTGTTT	0.373			"""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.(2056-2058)AAG>AAT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						136.0	134.0	135.0					X																	76938690		2203	4295	6498	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:76938690C>A	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.2058G>T	X.37:g.76938690C>A	ENSP00000362441:p.Lys686Asn					ATRX_uc004ecq.3_Missense_Mutation_p.K648N|ATRX_uc004eco.3_Missense_Mutation_p.K471N|ATRX_uc004ecr.2_Missense_Mutation_p.K618N|ATRX_uc010nlx.1_Missense_Mutation_p.K657N|ATRX_uc010nly.1_Missense_Mutation_p.K631N	p.K686N	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2290	-			686					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2058G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	1.042	-0.678644	0.03378	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92446	-3.04;-3.01	5.12	2.14	0.27477	.	0.200190	0.41823	D	0.000817	T	0.80401	0.4616	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.15930	0.001;0.015;0.004;0.001	B;B;B;B	0.16289	0.001;0.015;0.006;0.001	T	0.66296	-0.5959	10	0.18276	T	0.48	-9.6694	0.7857	0.01048	0.2943:0.363:0.1266:0.2161	.	686;618;648;686	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	N	686;648;613	ENSP00000362441:K686N;ENSP00000378967:K648N	ENSP00000362441:K686N	K	-	3	2	ATRX	76825346	0.998000	0.40836	0.969000	0.41365	0.646000	0.38490	0.457000	0.21875	0.942000	0.37525	0.513000	0.50165	AAG		PASS	0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		197	457	197	457	---	---	---	---
CYSLTR1	10800	broad.mit.edu	37	X	77528615	77528615	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:77528615G>T	ENST00000373304.3	-	3	921	c.629C>A	c.(628-630)aCa>aAa	p.T210K		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	210					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)	p.T210K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AATGATCATTGTGTAACAGAC	0.318																																						uc004edb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(628-630)ACA>AAA		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						57.0	51.0	53.0					X																	77528615		2203	4299	6502	SO:0001583	missense	10800				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528615G>T	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.629C>A	X.37:g.77528615G>T	ENSP00000362401:p.Thr210Lys					CYSLTR1_uc010nma.2_Missense_Mutation_p.T210K|CYSLTR1_uc010nmb.2_Missense_Mutation_p.T210K	p.T210K	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN			3	1029	-			210			Helical; Name=5; (Potential).		B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.629C>A	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935314	0.52866	.	.	ENSG00000173198	ENST00000373304	T	0.73047	-0.71	4.15	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.113338	0.64402	D	0.000012	T	0.78521	0.4296	M	0.72894	2.215	0.37279	D	0.907755	D	0.61080	0.989	P	0.59357	0.856	T	0.79680	-0.1702	10	0.26408	T	0.33	.	12.8919	0.58076	0.0:0.0:1.0:0.0	.	210	Q9Y271	CLTR1_HUMAN	K	210	ENSP00000362401:T210K	ENSP00000362401:T210K	T	-	2	0	CYSLTR1	77415271	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.314000	0.72848	1.893000	0.54813	0.468000	0.43344	ACA		PASS	0.318	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			23	68	23	68	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79978191	79978191	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:79978191G>T	ENST00000373275.4	-	17	1962	c.1746C>A	c.(1744-1746)caC>caA	p.H582Q	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	582					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.H582Q(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GAGGCATGAGGTGAGGAGCTT	0.428																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1744-1746)CAC>CAA		bromodomain and WD repeat domain containing 3							131.0	114.0	120.0					X																	79978191		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79978191G>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1746C>A	X.37:g.79978191G>T	ENSP00000362372:p.His582Gln					BRWD3_uc004edo.2_Missense_Mutation_p.H178Q|BRWD3_uc004edp.2_Missense_Mutation_p.H411Q|BRWD3_uc004edq.2_Missense_Mutation_p.H178Q|BRWD3_uc010nmj.1_Missense_Mutation_p.H178Q|BRWD3_uc004edr.2_Missense_Mutation_p.H252Q|BRWD3_uc004eds.2_Missense_Mutation_p.H178Q|BRWD3_uc004edu.2_Missense_Mutation_p.H252Q|BRWD3_uc004edv.2_Missense_Mutation_p.H178Q|BRWD3_uc004edw.2_Missense_Mutation_p.H178Q|BRWD3_uc004edx.2_Missense_Mutation_p.H178Q|BRWD3_uc004edy.2_Missense_Mutation_p.H178Q|BRWD3_uc004edz.2_Missense_Mutation_p.H252Q|BRWD3_uc004eea.2_Missense_Mutation_p.H252Q|BRWD3_uc004eeb.2_Missense_Mutation_p.H178Q	p.H582Q	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			17	2009	-			582					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1746C>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260101	0.59321	.	.	ENSG00000165288	ENST00000373275	T	0.60299	0.2	4.7	-0.27	0.12926	.	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	M	0.90542	3.125	0.42249	D	0.991965	D	0.89917	1.0	D	0.79784	0.993	T	0.75408	-0.3328	9	.	.	.	-6.7654	9.3372	0.38058	0.6307:0.0:0.3693:0.0	.	582	Q6RI45	BRWD3_HUMAN	Q	582	ENSP00000362372:H582Q	.	H	-	3	2	BRWD3	79864847	0.997000	0.39634	0.997000	0.53966	0.998000	0.95712	0.436000	0.21526	-0.085000	0.12573	0.544000	0.68410	CAC		PASS	0.428	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		58	160	58	160	---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83390218	83390218	+	Splice_Site	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:83390218C>A	ENST00000262752.2	-	7	509	c.502G>T	c.(502-504)Gtt>Ttt	p.V168F	RPS6KA6_ENST00000543399.1_Splice_Site_p.V168F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	168	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V168F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GTAAACAGAACCTAGAACAAA	0.333																																						uc004eej.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(502-504)GTT>TTT		ribosomal protein S6 kinase polypeptide 6							50.0	44.0	46.0					X																	83390218		2202	4299	6501	SO:0001630	splice_region_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83390218C>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.502-1G>T	X.37:g.83390218C>A						RPS6KA6_uc011mqt.1_Missense_Mutation_p.V168F|RPS6KA6_uc011mqu.1_Missense_Mutation_p.V65F|RPS6KA6_uc010nmo.1_RNA	p.V168F	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			7	579	-			168			Protein kinase 1.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.502G>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935769	0.52972	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.24538	1.85;1.85	4.42	4.42	0.53409	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	N	0.20881	0.62	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.24155	0.051;0.051	T	0.04333	-1.0959	10	0.45353	T	0.12	.	16.5574	0.84490	0.0:1.0:0.0:0.0	.	168;168	B7ZL90;Q9UK32	.;KS6A6_HUMAN	F	168	ENSP00000262752:V168F;ENSP00000440830:V168F	ENSP00000262752:V168F	V	-	1	0	RPS6KA6	83276874	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	5.847000	0.69451	1.908000	0.55244	0.538000	0.68166	GTT		PASS	0.333	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	Missense_Mutation	13	38	13	38	---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84526181	84526181	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:84526181C>A	ENST00000373165.3	+	9	1939	c.1633C>A	c.(1633-1635)Caa>Aaa	p.Q545K	ZNF711_ENST00000360700.4_Missense_Mutation_p.Q591K|ZNF711_ENST00000395402.1_Missense_Mutation_p.Q553K|ZNF711_ENST00000542798.1_Missense_Mutation_p.Q387K|ZNF711_ENST00000276123.3_Missense_Mutation_p.Q545K	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	545					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.Q545K(2)|p.Q555K(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTGTGCAGATCAATCAAATCT	0.393																																						uc004eeo.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)|skin(1)	4						c.(1633-1635)CAA>AAA		zinc finger protein 711							47.0	39.0	42.0					X																	84526181		2203	4299	6502	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526181C>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1633C>A	X.37:g.84526181C>A	ENSP00000362260:p.Gln545Lys					ZNF711_uc004eep.2_Missense_Mutation_p.Q545K|ZNF711_uc004eeq.2_Missense_Mutation_p.Q591K|ZNF711_uc011mqy.1_Missense_Mutation_p.Q144K	p.Q545K	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			9	1980	+			545			C2H2-type 5.		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.1633C>A	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798811	0.31777	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.19	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.41712	D	0.000821	T	0.05181	0.0138	N	0.01122	-1.005	0.44188	D	0.997005	P;B	0.40000	0.698;0.131	B;B	0.37091	0.241;0.016	T	0.47497	-0.9113	10	0.66056	D	0.02	-11.468	13.2127	0.59834	0.0:0.9207:0.0:0.0793	.	591;545	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	K	553;545;545;591;387	ENSP00000378798:Q553K;ENSP00000362260:Q545K;ENSP00000276123:Q545K;ENSP00000353922:Q591K;ENSP00000442071:Q387K	ENSP00000276123:Q545K	Q	+	1	0	ZNF711	84412837	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	5.999000	0.70665	0.982000	0.38575	0.513000	0.50165	CAA		PASS	0.393	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		34	55	34	55	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91133298	91133298	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:91133298C>A	ENST00000373094.1	+	2	2904	c.2059C>A	c.(2059-2061)Ccg>Acg	p.P687T	PCDH11X_ENST00000361724.1_Missense_Mutation_p.P687T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P687T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P687T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P687T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P687T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P687T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P687T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P687T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	687	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P687T(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTGGTTCTACCGTCCACTAA	0.423																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2059-2061)CCG>ACG		protocadherin 11 X-linked isoform c							132.0	121.0	124.0					X																	91133298		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133298C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2059C>A	X.37:g.91133298C>A	ENSP00000362186:p.Pro687Thr					PCDH11X_uc004efl.1_Missense_Mutation_p.P687T|PCDH11X_uc004efo.1_Missense_Mutation_p.P687T|PCDH11X_uc010nmv.1_Missense_Mutation_p.P687T|PCDH11X_uc004efm.1_Missense_Mutation_p.P687T|PCDH11X_uc004efn.1_Missense_Mutation_p.P687T|PCDH11X_uc004efh.1_Missense_Mutation_p.P687T|PCDH11X_uc004efj.1_Missense_Mutation_p.P687T	p.P687T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2904	+			687			Cadherin 7.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2059C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	3.983	-0.006066	0.07773	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.08	4.16	0.48862	Cadherin (3);Cadherin-like (1);	0.113445	0.56097	D	0.000021	T	0.48840	0.1522	L	0.58583	1.82	0.34236	D	0.677035	B;B;B;B;B;B;B;B	0.19706	0.004;0.038;0.012;0.012;0.012;0.015;0.004;0.004	B;B;B;B;B;B;B;B	0.28465	0.009;0.09;0.028;0.028;0.028;0.048;0.009;0.009	T	0.59830	-0.7380	10	0.45353	T	0.12	.	9.7932	0.40720	0.4017:0.5983:0.0:0.0	.	687;687;687;687;687;687;687;687	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	687	ENSP00000378746:P687T;ENSP00000362186:P687T;ENSP00000362189:P687T;ENSP00000355040:P687T;ENSP00000362180:P687T;ENSP00000423762:P687T;ENSP00000355105:P687T;ENSP00000384758:P687T;ENSP00000298274:P687T	ENSP00000298274:P687T	P	+	1	0	PCDH11X	91019954	0.997000	0.39634	1.000000	0.80357	0.414000	0.31173	3.111000	0.50360	2.084000	0.62774	0.415000	0.27848	CCG		PASS	0.423	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		64	273	64	273	---	---	---	---
DRP2	1821	broad.mit.edu	37	X	100490873	100490873	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:100490873G>T	ENST00000395209.3	+	4	669	c.142G>T	c.(142-144)Gca>Tca	p.A48S	DRP2_ENST00000541709.1_5'UTR|DRP2_ENST00000538510.1_Missense_Mutation_p.A48S|DRP2_ENST00000402866.1_Missense_Mutation_p.A48S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	48					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A45S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CACCAGCCCTGCACCTCCTCA	0.557																																						uc004egz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(142-144)GCA>TCA		dystrophin related protein 2							183.0	149.0	160.0					X																	100490873		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100490873G>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.142G>T	X.37:g.100490873G>T	ENSP00000378635:p.Ala48Ser					DRP2_uc011mrh.1_5'UTR	p.A48S	NM_001939	NP_001930	Q13474	DRP2_HUMAN			4	511	+			48					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.142G>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	8.865	0.947886	0.18356	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	T;T;T	0.05382	3.45;3.45;3.45	5.55	3.44	0.39384	.	0.469539	0.20074	N	0.099813	T	0.06645	0.0170	L	0.51422	1.61	0.47341	D	0.999391	B	0.17038	0.02	B	0.14578	0.011	T	0.24693	-1.0153	10	0.38643	T	0.18	-0.0554	5.9662	0.19326	0.2998:0.0:0.7002:0.0	.	48	Q13474	DRP2_HUMAN	S	48	ENSP00000385038:A48S;ENSP00000378635:A48S;ENSP00000441051:A48S	ENSP00000362007:A48S	A	+	1	0	DRP2	100377529	0.973000	0.33851	0.706000	0.30403	0.527000	0.34593	1.837000	0.39201	0.438000	0.26450	-0.380000	0.06706	GCA		PASS	0.557	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		101	298	101	298	---	---	---	---
ARMCX3	51566	broad.mit.edu	37	X	100880053	100880053	+	Silent	SNP	T	T	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:100880053T>C	ENST00000341189.4	+	5	950	c.84T>C	c.(82-84)acT>acC	p.T28T	ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000471229.2_Silent_p.T28T|ARMCX3_ENST00000537169.1_Silent_p.T28T|RP4-545K15.5_ENST00000564612.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	28					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)		p.T28T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATAGACTGACTAGGGGAAGAA	0.542																																						uc004ehz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(82-84)ACT>ACC		armadillo repeat containing, X-linked 3							81.0	80.0	80.0					X																	100880053		2203	4300	6503	SO:0001819	synonymous_variant	51566					integral to membrane	binding	g.chrX:100880053T>C	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.84T>C	X.37:g.100880053T>C						ARMCX3_uc004eia.1_Silent_p.T28T|ARMCX3_uc004eib.1_Silent_p.T28T|ARMCX3_uc004eic.1_Silent_p.T28T	p.T28T	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN			5	617	+			28			Helical; (Potential).		Q53HC6|Q7LCF5|Q9NPE4	Silent	SNP	ENST00000341189.4	37	c.84T>C	CCDS14489.1																																																																																				PASS	0.542	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		66	177	66	177	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100912230	100912230	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:100912230G>T	ENST00000328766.5	-	5	798	c.345C>A	c.(343-345)gcC>gcA	p.A115A	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.A115A|ARMCX2_ENST00000356824.4_Silent_p.A115A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	115	Ala-rich.					integral component of membrane (GO:0016021)		p.A115A(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTGCCTCTTGGGCCTGACTGC	0.642																																						uc004eid.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(343-345)GCC>GCA		ALEX2 protein							43.0	43.0	43.0					X																	100912230		2203	4300	6503	SO:0001819	synonymous_variant	9823					integral to membrane	binding	g.chrX:100912230G>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.345C>A	X.37:g.100912230G>T						ARMCX2_uc004eie.3_Silent_p.A115A|ARMCX2_uc004eif.3_Silent_p.A115A|ARMCX2_uc004eig.3_Silent_p.A115A|ARMCX2_uc010nnt.2_Silent_p.A115A	p.A115A	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	700	-			115			Ala-rich.		O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	c.345C>A	CCDS14490.1																																																																																				PASS	0.642	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		46	169	46	169	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101908916	101908916	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:101908916G>T	ENST00000361600.5	+	5	876	c.75G>T	c.(73-75)ggG>ggT	p.G25G	GPRASP1_ENST00000444152.1_Silent_p.G25G|GPRASP1_ENST00000537097.1_Silent_p.G25G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.G25G	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	25					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.G25G(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGTAGGTGGGGCTGAGATAG	0.522																																						uc004ejj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(73-75)GGG>GGT		G protein-coupled receptor associated sorting							143.0	146.0	145.0					X																	101908916		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101908916G>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.75G>T	X.37:g.101908916G>T						GPRASP1_uc004eji.3_Silent_p.G25G|GPRASP1_uc010nod.2_Silent_p.G25G	p.G25G	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	876	+			25					O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.75G>T	CCDS35352.1																																																																																				PASS	0.522	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		98	332	98	332	---	---	---	---
PLP1	5354	broad.mit.edu	37	X	103041628	103041628	+	Silent	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:103041628G>A	ENST00000303958.2	+	3	572	c.426G>A	c.(424-426)ttG>ttA	p.L142L	PLP1_ENST00000361621.2_Intron|PLP1_ENST00000418604.1_Silent_p.L142L	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	142			Missing (in HLD1).		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)	p.L142L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GTCATTGTTTGGGAAAATGGC	0.567																																						uc010nov.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(424-426)TTG>TTA		proteolipid protein 1 isoform 1							138.0	119.0	126.0					X																	103041628		2203	4300	6503	SO:0001819	synonymous_variant	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103041628G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.426G>A	X.37:g.103041628G>A						RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Silent_p.L142L|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Silent_p.L87L|PLP1_uc010now.1_Silent_p.L146L|PLP1_uc010nox.2_Silent_p.L96L	p.L142L	NM_001128834	NP_001122306	P60201	MYPR_HUMAN			4	706	+			142		Missing (in HLD1).	Cytoplasmic (Probable).		P04400|P06905|Q502Y1|Q6FHZ6	Silent	SNP	ENST00000303958.2	37	c.426G>A	CCDS14513.1																																																																																				PASS	0.567	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			81	299	81	299	---	---	---	---
TEX13A	56157	broad.mit.edu	37	X	104464792	104464792	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:104464792G>A	ENST00000413579.1	-	2	401	c.290C>T	c.(289-291)gCc>gTc	p.A97V	IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.A97V|TEX13A_ENST00000372575.1_Missense_Mutation_p.A97V			Q9BXU3	TX13A_HUMAN	testis expressed 13A	97							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTGCAGTTTGGCGAAGCCGTG	0.632																																						uc004ema.2																			0				ovary(2)	2						c.(289-291)GCC>GTC		testis expressed sequence 13A							31.0	31.0	31.0					X																	104464792		2198	4278	6476	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464792G>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.290C>T	X.37:g.104464792G>A	ENSP00000399753:p.Ala97Val					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.A97V	p.A97V	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	402	-			97					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.290C>T		.	.	.	.	.	.	.	.	.	.	G	11.93	1.786041	0.31593	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.84	2.84	0.33178	.	0.501798	0.14964	N	0.288195	T	0.19046	0.0457	.	.	.	0.09310	N	1	P;P	0.49559	0.925;0.925	P;P	0.45639	0.488;0.488	T	0.04165	-1.0972	8	0.09338	T	0.73	.	8.4112	0.32644	0.0:0.0:1.0:0.0	.	97;97	C9JWK0;Q9BXU3	.;TX13A_HUMAN	V	97	.	ENSP00000361656:A97V	A	-	2	0	TEX13A	104351448	0.029000	0.19370	0.002000	0.10522	0.012000	0.07955	3.420000	0.52735	1.705000	0.51264	0.506000	0.49869	GCC		PASS	0.632	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		27	57	27	57	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105152799	105152799	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:105152799C>A	ENST00000243300.9	+	13	1469	c.1166C>A	c.(1165-1167)cCc>cAc	p.P389H	NRK_ENST00000428173.2_Missense_Mutation_p.P390H	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	389					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P390Q(1)|p.P390H(1)|p.P389Q(1)|p.P389H(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CATGGGGAACCCTCTCAGCCA	0.542										HNSCC(51;0.14)																												uc004emd.2																			4	Substitution - Missense(4)		lung(4)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1165-1167)CCC>CAC		Nik related kinase							47.0	48.0	48.0					X																	105152799		2030	4175	6205	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105152799C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1166C>A	X.37:g.105152799C>A	ENSP00000434830:p.Pro389His	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.P57H	p.P389H	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	1469	+			389					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1166C>A		.	.	.	.	.	.	.	.	.	.	C	14.54	2.567354	0.45694	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.78126	-1.15;-1.11	5.05	2.01	0.26516	.	0.145336	0.32548	N	0.005956	T	0.58793	0.2147	N	0.24115	0.695	0.26583	N	0.973333	P;B	0.39181	0.663;0.243	B;B	0.38264	0.269;0.079	T	0.49670	-0.8915	10	0.17369	T	0.5	.	7.0705	0.25175	0.187:0.4553:0.3576:0.0	.	57;389	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	H	389;390	ENSP00000434830:P389H;ENSP00000438378:P390H	ENSP00000434830:P389H	P	+	2	0	NRK	105039455	0.499000	0.26083	0.347000	0.25668	0.988000	0.76386	0.607000	0.24209	0.586000	0.29626	0.600000	0.82982	CCC		PASS	0.542	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		24	120	24	120	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105153311	105153311	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:105153311G>T	ENST00000243300.9	+	13	1981	c.1678G>T	c.(1678-1680)Gag>Tag	p.E560*	NRK_ENST00000428173.2_Nonsense_Mutation_p.E561*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	560	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E560*(1)|p.E561*(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGAACAGCCAGAGGTACAGGA	0.572										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Nonsense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1678-1680)GAG>TAG		Nik related kinase							36.0	37.0	37.0					X																	105153311		2024	4161	6185	SO:0001587	stop_gained	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153311G>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1678G>T	X.37:g.105153311G>T	ENSP00000434830:p.Glu560*	HNSCC(51;0.14)				NRK_uc010npc.1_Nonsense_Mutation_p.E228*	p.E560*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	1981	+			560			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	37	c.1678G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.895404	0.97074	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	4.36	4.36	0.52297	.	0.000000	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	8.7472	0.34594	0.0:0.0:0.7752:0.2248	.	.	.	.	X	560;561	.	ENSP00000434830:E560X	E	+	1	0	NRK	105039967	1.000000	0.71417	0.920000	0.36463	0.144000	0.21451	3.817000	0.55668	2.418000	0.82041	0.513000	0.50165	GAG		PASS	0.572	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		5	18	5	18	---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107840243	107840243	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:107840243C>A	ENST00000361603.2	+	23	1776	c.1532C>A	c.(1531-1533)cCt>cAt	p.P511H	COL4A5_ENST00000328300.6_Missense_Mutation_p.P511H	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	511	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.P511H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTTGGTTTCCCTGGACAGAAA	0.403									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1531-1533)CCT>CAT		type IV collagen alpha 5 isoform 2 precursor							96.0	76.0	83.0					X																	107840243		2200	4298	6498	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107840243C>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1532C>A	X.37:g.107840243C>A	ENSP00000354505:p.Pro511His					COL4A5_uc011mso.1_Missense_Mutation_p.P511H|COL4A5_uc004eob.1_Missense_Mutation_p.P119H	p.P511H	NM_033380	NP_203699	P29400	CO4A5_HUMAN			23	1734	+			511			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1532C>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398532	0.42512	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97114	-4.25;-4.25	4.79	4.79	0.61399	.	0.235583	0.36628	N	0.002488	D	0.98425	0.9476	M	0.89414	3.03	0.40310	D	0.978702	D;D;D	0.63046	0.971;0.992;0.971	P;P;P	0.61592	0.819;0.891;0.819	D	0.99905	1.1175	10	0.72032	D	0.01	.	17.028	0.86453	0.0:1.0:0.0:0.0	.	511;119;511	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	H	511	ENSP00000331902:P511H;ENSP00000354505:P511H	ENSP00000331902:P511H	P	+	2	0	COL4A5	107726899	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	4.782000	0.62396	1.939000	0.56221	0.513000	0.50165	CCT		PASS	0.403	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			13	27	13	27	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108636237	108636237	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:108636237C>A	ENST00000218006.2	-	13	2763	c.2472G>T	c.(2470-2472)atG>atT	p.M824I		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	824					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.M824I(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACATCCGAAGCATAGAATCAA	0.353																																						uc004eod.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(2470-2472)ATG>ATT		guanylate cyclase 2F precursor							148.0	135.0	139.0					X																	108636237		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108636237C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2472G>T	X.37:g.108636237C>A	ENSP00000218006:p.Met824Ile					GUCY2F_uc011msq.1_RNA	p.M824I	NM_001522	NP_001513	P51841	GUC2F_HUMAN			13	2748	-			824			Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.2472G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141794	0.57044	.	.	ENSG00000101890	ENST00000218006	T	0.61158	0.13	4.39	1.65	0.23941	Protein kinase-like domain (1);	0.121102	0.85682	N	0.000000	T	0.70072	0.3182	M	0.84511	2.7	0.49389	D	0.999789	D	0.56287	0.975	P	0.61722	0.893	T	0.67492	-0.5657	10	0.62326	D	0.03	.	5.4699	0.16664	0.0:0.6364:0.1642:0.1994	.	824	P51841	GUC2F_HUMAN	I	824	ENSP00000218006:M824I	ENSP00000218006:M824I	M	-	3	0	GUCY2F	108522893	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.905000	0.56333	0.212000	0.20703	0.513000	0.50165	ATG		PASS	0.353	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		79	339	79	339	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108719023	108719023	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:108719023A>T	ENST00000218006.2	-	2	434	c.143T>A	c.(142-144)gTg>gAg	p.V48E		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	48					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.V48E(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GAGTGTCCACACCTGCTGCGG	0.562											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004eod.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(142-144)GTG>GAG		guanylate cyclase 2F precursor							82.0	69.0	73.0					X																	108719023		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108719023A>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.143T>A	X.37:g.108719023A>T	ENSP00000218006:p.Val48Glu		OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414	GUCY2F_uc011msq.1_RNA	p.V48E	NM_001522	NP_001513	P51841	GUC2F_HUMAN			2	419	-			48					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.143T>A	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.918123	0.52546	.	.	ENSG00000101890	ENST00000218006	T	0.79141	-1.24	4.42	0.548	0.17208	.	0.695623	0.13983	N	0.349337	T	0.59238	0.2179	L	0.32530	0.975	0.09310	N	1	B	0.25772	0.134	B	0.34301	0.179	T	0.47799	-0.9089	10	0.02654	T	1	.	1.7171	0.02904	0.5594:0.1757:0.1009:0.164	.	48	P51841	GUC2F_HUMAN	E	48	ENSP00000218006:V48E	ENSP00000218006:V48E	V	-	2	0	GUCY2F	108605679	0.001000	0.12720	0.000000	0.03702	0.904000	0.53231	0.164000	0.16542	-0.014000	0.14175	0.486000	0.48141	GTG		PASS	0.562	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		43	176	43	176	---	---	---	---
LHFPL1	340596	broad.mit.edu	37	X	111914544	111914544	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:111914544G>T	ENST00000371968.3	-	2	314	c.75C>A	c.(73-75)acC>acA	p.T25T	LHFPL1_ENST00000536453.1_Silent_p.T25T|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	25						integral component of membrane (GO:0016021)		p.T25T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGAAGTAACTGGTAGAACTGG	0.562																																						uc004epq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(73-75)ACC>ACA		lipoma HMGIC fusion partner-like 1 precursor							175.0	163.0	167.0					X																	111914544		2203	4300	6503	SO:0001819	synonymous_variant	340596					integral to membrane		g.chrX:111914544G>T	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.75C>A	X.37:g.111914544G>T						LHFPL1_uc004epp.2_Silent_p.T48T|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Silent_p.T25T	p.T25T	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN			2	408	-			25					A8K1N1|Q496M9|Q496N0|Q6UXU2	Silent	SNP	ENST00000371968.3	37	c.75C>A	CCDS14562.1																																																																																				PASS	0.562	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		150	460	150	460	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119693974	119693974	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:119693974C>G	ENST00000404115.3	-	3	975	c.574G>C	c.(574-576)Ggc>Cgc	p.G192R	CUL4B_ENST00000371322.5_Missense_Mutation_p.G174R|CUL4B_ENST00000336592.6_Missense_Mutation_p.G179R	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	192	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G174R(1)|p.G192R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTAGCAGAGCCAGGTTTGCTG	0.428																																						uc004esw.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(574-576)GGC>CGC		cullin 4B isoform 1							128.0	119.0	122.0					X																	119693974		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119693974C>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.574G>C	X.37:g.119693974C>G	ENSP00000384109:p.Gly192Arg					CUL4B_uc004esv.2_Missense_Mutation_p.G174R	p.G192R	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			3	1011	-			192			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.574G>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252642	0.80135	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.68479	-0.33;-0.33;-0.33	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	L	0.46157	1.445	0.80722	D	1	P;P	0.48162	0.848;0.906	P;P	0.51266	0.56;0.664	T	0.68416	-0.5414	9	.	.	.	-5.2971	17.3869	0.87418	0.0:1.0:0.0:0.0	.	192;174	Q13620;Q13620-1	CUL4B_HUMAN;.	R	174;179;192	ENSP00000360373:G174R;ENSP00000338919:G179R;ENSP00000384109:G192R	.	G	-	1	0	CUL4B	119578002	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.319000	0.78375	0.529000	0.55759	GGC		PASS	0.428	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		50	188	50	188	---	---	---	---
MCTS1	28985	broad.mit.edu	37	X	119742191	119742191	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:119742191C>T	ENST00000371317.5	+	4	631	c.374C>T	c.(373-375)cCt>cTt	p.P125L	MCTS1_ENST00000371315.3_Missense_Mutation_p.P126L|MCTS1_ENST00000487133.1_3'UTR	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	125	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)	p.P126L(1)|p.P125L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						AAGCTTTACCCTGCTGCAGTA	0.433																																						uc004esx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(373-375)CCT>CTT		malignant T cell amplified sequence 1 isoform 1							132.0	108.0	116.0					X																	119742191		2203	4300	6503	SO:0001583	missense	28985				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding	g.chrX:119742191C>T	AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.374C>T	X.37:g.119742191C>T	ENSP00000360367:p.Pro125Leu					MCTS1_uc011mub.1_Missense_Mutation_p.P126L	p.P125L	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN			4	722	+			125			PUA.		B4DGY2|Q502X6	Missense_Mutation	SNP	ENST00000371317.5	37	c.374C>T	CCDS14601.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534542	0.64972	.	.	ENSG00000232119	ENST00000371317;ENST00000371315	T;T	0.42900	0.96;0.96	5.43	5.43	0.79202	Uncharacterised domain CHP00451 (1);Pseudouridine synthase/archaeosine transglycosylase (3);PUA-like domain (1);	0.050181	0.85682	D	0.000000	T	0.48466	0.1501	M	0.80982	2.52	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12837	0.002;0.008	T	0.45556	-0.9253	9	.	.	.	-5.313	17.1615	0.86804	0.0:1.0:0.0:0.0	.	126;125	Q9ULC4-3;Q9ULC4	.;MCTS1_HUMAN	L	125;126	ENSP00000360367:P125L;ENSP00000360365:P126L	.	P	+	2	0	MCTS1	119626219	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.798000	0.62510	2.261000	0.74972	0.600000	0.82982	CCT		PASS	0.433	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1	NM_014060		17	242	17	242	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123587186	123587186	+	Splice_Site	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:123587186C>A	ENST00000371130.3	-	22	4147		c.e22+1		TENM1_ENST00000422452.2_Splice_Site|TENM1_ENST00000461429.1_5'Flank	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1						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.?(1)									GTGATGCCTACCTGAGTGATG	0.408																																						uc004euj.2																			1	Unknown(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.e22+1		odz, odd Oz/ten-m homolog 1 isoform 3							236.0	175.0	196.0					X																	123587186		2203	4300	6503	SO:0001630	splice_region_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123587186C>A	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.4083+1G>T	X.37:g.123587186C>A						ODZ1_uc011muj.1_Splice_Site_p.Q1367_splice|ODZ1_uc010nqy.2_Splice_Site_p.Q1368_splice	p.Q1361_splice	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			22	4147	-								B2RTR5|Q5JZ17	Splice_Site	SNP	ENST00000371130.3	37	c.4083_splice	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663014	0.88251	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.357	0.94418	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ODZ1	123414867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.524000	0.85096	0.600000	0.82982	.		PASS	0.408	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	Intron	51	168	51	168	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123615585	123615585	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:123615585G>C	ENST00000371130.3	-	21	3988	c.3925C>G	c.(3925-3927)Cga>Gga	p.R1309G	TENM1_ENST00000422452.2_Missense_Mutation_p.R1316G|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1309					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.R1311G(1)									tttttaCCTCGAGGGCTATTC	0.393																																						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.(3925-3927)CGA>GGA		odz, odd Oz/ten-m homolog 1 isoform 3							42.0	36.0	38.0					X																	123615585		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:123615585G>C	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.3925C>G	X.37:g.123615585G>C	ENSP00000360171:p.Arg1309Gly					ODZ1_uc011muj.1_Missense_Mutation_p.R1315G|ODZ1_uc010nqy.2_Missense_Mutation_p.R1316G	p.R1309G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			21	3989	-			1309			NHL 2.|Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3925C>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163261	0.57476	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90385	-2.66;-2.66	5.29	3.31	0.37934	Six-bladed beta-propeller, TolB-like (1);	0.136662	0.47455	D	0.000226	D	0.92831	0.7720	L	0.49571	1.57	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.997;0.989	D;P;P	0.76071	0.987;0.873;0.698	D	0.92900	0.6338	10	0.59425	D	0.04	.	13.0966	0.59195	0.0:0.0:0.6948:0.3052	.	1315;1316;1309	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	1309;1316	ENSP00000360171:R1309G;ENSP00000403954:R1316G	ENSP00000360171:R1309G	R	-	1	2	ODZ1	123443266	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.086000	0.41643	2.183000	0.69458	0.600000	0.82982	CGA		PASS	0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		22	92	22	92	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	124030047	124030047	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:124030047G>T	ENST00000371130.3	-	2	324	c.261C>A	c.(259-261)taC>taA	p.Y87*	TENM1_ENST00000422452.2_Nonsense_Mutation_p.Y87*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	87	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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.Y87*(1)									TGTCTGTTTGGTAGCCAGAGC	0.478																																						uc004euj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(259-261)TAC>TAA		odz, odd Oz/ten-m homolog 1 isoform 3							143.0	123.0	130.0					X																	124030047		2203	4300	6503	SO:0001587	stop_gained	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:124030047G>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.261C>A	X.37:g.124030047G>T	ENSP00000360171:p.Tyr87*					ODZ1_uc011muj.1_Nonsense_Mutation_p.Y87*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.Y87*	p.Y87*	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			2	325	-			87			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	c.261C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	36	5.815811	0.96982	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.56	4.7	0.59300	.	0.494002	0.20032	N	0.100692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8818	0.52579	0.1506:0.0:0.8494:0.0	.	.	.	.	X	87	.	ENSP00000360171:Y87X	Y	-	3	2	ODZ1	123857728	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.528000	0.45624	1.222000	0.43521	0.600000	0.82982	TAC		PASS	0.478	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		82	285	82	285	---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185842	127185842	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:127185842G>T	ENST00000371124.3	-	1	540	c.344C>A	c.(343-345)cCt>cAt	p.P115H		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	115						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P115H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AATTTCCCTAGGATTCAAAGA	0.483																																						uc004eum.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(343-345)CCT>CAT		actin-related protein T1							225.0	216.0	219.0					X																	127185842		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185842G>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.344C>A	X.37:g.127185842G>T	ENSP00000360165:p.Pro115His						p.P115H	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			1	541	-			115					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.344C>A	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056806	0.36277	.	.	ENSG00000123165	ENST00000371124	D	0.97831	-4.56	3.76	2.89	0.33648	.	0.000000	0.64402	D	0.000012	D	0.98937	0.9639	H	0.96691	3.865	0.46798	D	0.999202	D	0.89917	1.0	D	0.97110	1.0	D	0.98545	1.0634	10	0.87932	D	0	.	8.3151	0.32095	0.123:0.0:0.877:0.0	.	115	Q8TDG2	ACTT1_HUMAN	H	115	ENSP00000360165:P115H	ENSP00000360165:P115H	P	-	2	0	ACTRT1	127013523	1.000000	0.71417	0.968000	0.41197	0.079000	0.17450	8.766000	0.91728	0.952000	0.37798	0.544000	0.68410	CCT		PASS	0.483	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		169	658	169	658	---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129058809	129058809	+	Silent	SNP	C	C	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:129058809C>T	ENST00000394422.3	+	12	1415	c.1387C>T	c.(1387-1389)Cta>Tta	p.L463L	UTP14A_ENST00000425117.2_Silent_p.L411L|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Silent_p.L295L|UTP14A_ENST00000371051.5_Silent_p.L409L	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	463					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L463L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						ATTGAGAGTACTATCTCAGAA	0.468																																						uc004euz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1387-1389)CTA>TTA		UTP14, U3 small nucleolar ribonucleoprotein,							136.0	145.0	142.0					X																	129058809		2203	4300	6503	SO:0001819	synonymous_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129058809C>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1387C>T	X.37:g.129058809C>T						UTP14A_uc011mup.1_Silent_p.L411L|UTP14A_uc011muq.1_Silent_p.L409L	p.L463L	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			12	1415	+			463					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	c.1387C>T	CCDS14615.1																																																																																				PASS	0.468	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		178	548	178	548	---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129059948	129059948	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:129059948G>T	ENST00000394422.3	+	13	1831	c.1803G>T	c.(1801-1803)ggG>ggT	p.G601G	UTP14A_ENST00000425117.2_Silent_p.G549G|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Silent_p.G433G|UTP14A_ENST00000371051.5_Silent_p.G547G	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	601					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.G601G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CTTTTGCTGGGGATGATGTCA	0.507											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004euz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1801-1803)GGG>GGT		UTP14, U3 small nucleolar ribonucleoprotein,							72.0	66.0	68.0					X																	129059948		2203	4300	6503	SO:0001819	synonymous_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129059948G>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1803G>T	X.37:g.129059948G>T			OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1569	UTP14A_uc011mup.1_Silent_p.G549G|UTP14A_uc011muq.1_Silent_p.G547G	p.G601G	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			13	1831	+			601					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	c.1803G>T	CCDS14615.1																																																																																				PASS	0.507	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		14	48	14	48	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129148793	129148793	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:129148793C>G	ENST00000218147.7	+	4	2242	c.2045C>G	c.(2044-2046)tCc>tGc	p.S682C	BCORL1_ENST00000303743.5_Missense_Mutation_p.S682C|BCORL1_ENST00000359304.2_Missense_Mutation_p.S682C|BCORL1_ENST00000540052.1_Missense_Mutation_p.S682C			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	682					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S682C(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGCCTGGGCTCCACTTCCTCG	0.607																																						uc004evb.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(2044-2046)TCC>TGC		BCL6 co-repressor-like 1							70.0	58.0	62.0					X																	129148793		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148793C>G	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2045C>G	X.37:g.129148793C>G	ENSP00000218147:p.Ser682Cys					BCORL1_uc010nrd.1_Missense_Mutation_p.S584C	p.S682C	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2159	+			682					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.2045C>G	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033826	0.35893	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.48836	0.81;1.18;0.8;0.81;1.24	5.28	5.28	0.74379	.	0.219310	0.23427	N	0.048289	T	0.55970	0.1954	N	0.24115	0.695	0.34368	D	0.691687	D;D	0.76494	0.999;0.997	D;P	0.69654	0.965;0.846	T	0.66937	-0.5797	10	0.49607	T	0.09	-9.5285	18.078	0.89433	0.0:1.0:0.0:0.0	.	682;682	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	C	682;682;682;682;282	ENSP00000218147:S682C;ENSP00000307541:S682C;ENSP00000352253:S682C;ENSP00000437775:S682C;ENSP00000399483:S282C	ENSP00000218147:S682C	S	+	2	0	BCORL1	128976474	0.774000	0.28592	0.989000	0.46669	0.714000	0.41099	3.617000	0.54181	2.205000	0.71048	0.436000	0.28706	TCC		PASS	0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		30	117	30	117	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130413316	130413316	+	Splice_Site	SNP	C	C	G			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:130413316C>G	ENST00000361420.3	-	10	1726		c.e10-1		IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Splice_Site|IGSF1_ENST00000370904.1_Splice_Site|IGSF1_ENST00000370903.3_Splice_Site			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1						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.?(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						CCAGGCTTCTCTAGTGAGACC	0.562																																						uc004ewd.2																			1	Unknown(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.e10-1		immunoglobulin superfamily, member 1 isoform 1							43.0	39.0	40.0					X																	130413316		2203	4300	6503	SO:0001630	splice_region_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130413316C>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.1647-1G>C	X.37:g.130413316C>G						IGSF1_uc004ewe.3_Splice_Site_p.R538_splice|IGSF1_uc004ewf.2_Splice_Site_p.R529_splice	p.R549_splice	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			10	1885	-								B5MEG2|H9KV64|O15070|Q9NTC8	Splice_Site	SNP	ENST00000361420.3	37	c.1647_splice	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003947	0.35320	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	5.04	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7658	0.34702	0.2243:0.7756:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF1	130240997	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.984000	0.40658	2.424000	0.82194	0.600000	0.82982	.		PASS	0.562	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		Intron	25	90	25	90	---	---	---	---
MOSPD1	56180	broad.mit.edu	37	X	134025618	134025618	+	Silent	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:134025618C>A	ENST00000370783.3	-	5	687	c.501G>T	c.(499-501)gtG>gtT	p.V167V	MOSPD1_ENST00000370779.4_Intron|MOSPD1_ENST00000491609.1_5'UTR|MOSPD1_ENST00000370777.1_Silent_p.V168V	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	167					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)	p.V167V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					CAATGCACACCACTCCCAGGA	0.448																																						uc004eyb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(499-501)GTG>GTT		motile sperm domain containing 1							118.0	99.0	106.0					X																	134025618		2203	4300	6503	SO:0001819	synonymous_variant	56180				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity	g.chrX:134025618C>A	Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.501G>T	X.37:g.134025618C>A						MOSPD1_uc004eya.2_Intron|MOSPD1_uc010nrv.2_RNA	p.V167V	NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN			5	688	-	Acute lymphoblastic leukemia(192;0.000127)		167			Helical; (Potential).		B2RE62|D3DTG5|Q5H9C5|Q5H9C7	Silent	SNP	ENST00000370783.3	37	c.501G>T	CCDS14645.1																																																																																				PASS	0.448	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085439.1	NM_019556		67	187	67	187	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136648863	136648863	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:136648863C>A	ENST00000287538.5	+	1	563	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Missense_Mutation_p.L5M|RP1-137H15.2_ENST00000456631.1_RNA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	5					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L5M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GACGATGCTCCTGGACGGAGG	0.672																																						uc004fak.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(13-15)CTG>ATG		zinc finger protein of the cerebellum 3							16.0	14.0	14.0					X																	136648863		2194	4299	6493	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136648863C>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.13C>A	X.37:g.136648863C>A	ENSP00000287538:p.Leu5Met						p.L5M	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	518	+	Acute lymphoblastic leukemia(192;0.000127)		5					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.13C>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	18.00	3.524996	0.64747	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.19806	2.12;2.15	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000003	T	0.30417	0.0764	L	0.54323	1.7	0.47698	D	0.99949	D	0.71674	0.998	P	0.56343	0.796	T	0.04454	-1.0950	10	0.87932	D	0	.	6.8715	0.24123	0.0:0.8722:0.0:0.1278	.	5	O60481	ZIC3_HUMAN	M	5	ENSP00000287538:L5M;ENSP00000359638:L5M	ENSP00000287538:L5M	L	+	1	2	ZIC3	136476529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.592000	0.61027	1.886000	0.54624	0.525000	0.51046	CTG		PASS	0.672	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			6	12	6	12	---	---	---	---
SPANXN1	494118	broad.mit.edu	37	X	144337227	144337227	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:144337227C>A	ENST00000370493.3	+	2	871	c.112C>A	c.(112-114)Ccg>Acg	p.P38T		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	38								p.P38T(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCCGAACCGAGTTTGAA	0.403																																						uc004fcb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(112-114)CCG>ACG		SPANX-N1 protein							128.0	117.0	121.0					X																	144337227		2203	4297	6500	SO:0001583	missense	494118							g.chrX:144337227C>A		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.112C>A	X.37:g.144337227C>A	ENSP00000359524:p.Pro38Thr						p.P38T	NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN			2	112	+	Acute lymphoblastic leukemia(192;6.56e-05)		38						Missense_Mutation	SNP	ENST00000370493.3	37	c.112C>A	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	2.477	-0.320656	0.05386	.	.	ENSG00000203923	ENST00000370493	T	0.08458	3.09	1.53	-3.06	0.05379	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	1	B	0.33777	0.425	B	0.31495	0.131	T	0.21930	-1.0231	8	0.59425	D	0.04	.	3.6208	0.08094	0.4023:0.3436:0.2541:0.0	.	38	Q5VSR9	SPXN1_HUMAN	T	38	ENSP00000359524:P38T	ENSP00000359524:P38T	P	+	1	0	SPANXN1	144144919	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.329000	0.07935	-1.664000	0.01479	0.151000	0.16131	CCG		PASS	0.403	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		47	166	47	166	---	---	---	---
PRRG3	79057	broad.mit.edu	37	X	150869319	150869319	+	Silent	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:150869319G>T	ENST00000370353.3	+	4	900	c.510G>T	c.(508-510)cgG>cgT	p.R170R	PRRG3_ENST00000538575.1_Silent_p.R170R			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	170						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R170R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGTCCGGCTAGAGAGCA	0.662																																						uc004few.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(508-510)CGG>CGT		proline rich Gla (G-carboxyglutamic acid) 3							42.0	34.0	37.0					X																	150869319		2202	4299	6501	SO:0001819	synonymous_variant	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869319G>T	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.510G>T	X.37:g.150869319G>T							p.R170R	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN			4	900	+	Acute lymphoblastic leukemia(192;6.56e-05)		170			Cytoplasmic (Potential).		A1A523|A1A575|Q8N2N6	Silent	SNP	ENST00000370353.3	37	c.510G>T	CCDS14699.1																																																																																				PASS	0.662	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		25	68	25	68	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151093079	151093079	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:151093079G>T	ENST00000360243.2	+	3	1210	c.943G>T	c.(943-945)Gag>Tag	p.E315*	MAGEA4_ENST00000370335.1_Nonsense_Mutation_p.E315*|MAGEA4_ENST00000370340.3_Nonsense_Mutation_p.E315*|MAGEA4_ENST00000370337.4_Nonsense_Mutation_p.E315*|MAGEA4_ENST00000393921.1_Nonsense_Mutation_p.E315*|MAGEA4_ENST00000393920.1_Nonsense_Mutation_p.E315*|MAGEA4_ENST00000276344.2_Nonsense_Mutation_p.E315*	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	315								p.E315*(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGAGGAAGAGGGAGTCTG	0.572																																						uc004fez.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(943-945)GAG>TAG		melanoma antigen family A, 4							66.0	65.0	65.0					X																	151093079		2203	4300	6503	SO:0001587	stop_gained	4103						protein binding	g.chrX:151093079G>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.943G>T	X.37:g.151093079G>T	ENSP00000353379:p.Glu315*					MAGEA4_uc004ffa.2_Nonsense_Mutation_p.E315*|MAGEA4_uc004ffb.2_Nonsense_Mutation_p.E315*|MAGEA4_uc004ffc.2_Nonsense_Mutation_p.E315*|MAGEA4_uc004ffd.2_Nonsense_Mutation_p.E315*	p.E315*	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	1099	+	Acute lymphoblastic leukemia(192;6.56e-05)		315					Q14798	Nonsense_Mutation	SNP	ENST00000360243.2	37	c.943G>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168499	0.57584	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000370337;ENST00000393920;ENST00000370340;ENST00000370335;ENST00000360243	.	.	.	1.89	-0.0646	0.13771	.	3.946650	0.02010	U	0.046930	.	.	.	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7858	0.05373	0.2052:0.3015:0.4932:0.0	.	.	.	.	X	315	.	.	E	+	1	0	MAGEA4	150843735	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.303000	0.19210	-0.106000	0.12110	0.292000	0.19580	GAG		PASS	0.572	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		64	202	64	202	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153073817	153073817	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chrX:153073817C>A	ENST00000164640.4	-	2	485	c.294G>T	c.(292-294)gaG>gaT	p.E98D	PDZD4_ENST00000393758.2_Missense_Mutation_p.E17D|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	98						cytoplasm (GO:0005737)		p.E98D(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACGTACGGCTCCAGGATGA	0.672																																						uc004fiz.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(292-294)GAG>GAT		PDZ domain containing 4							39.0	31.0	33.0					X																	153073817		2199	4295	6494	SO:0001583	missense	57595					cell cortex		g.chrX:153073817C>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.294G>T	X.37:g.153073817C>A	ENSP00000164640:p.Glu98Asp					PDZD4_uc004fiy.1_Missense_Mutation_p.E17D|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Missense_Mutation_p.E98D|PDZD4_uc011mze.1_Intron	p.E98D	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			2	544	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		98					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.294G>T	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	3.120	-0.180716	0.06380	.	.	ENSG00000067840	ENST00000164640;ENST00000393758	T;T	0.04970	3.52;3.56	5.52	5.52	0.82312	.	0.777662	0.11487	N	0.559108	T	0.11836	0.0288	N	0.17674	0.51	0.41659	D	0.989174	B;D;B	0.76494	0.051;0.999;0.029	B;D;B	0.78314	0.024;0.991;0.008	T	0.30297	-0.9983	10	0.15066	T	0.55	-28.8459	10.7642	0.46283	0.0:0.9097:0.0:0.0903	.	98;98;17	Q17RL8;Q76G19;D3DWW0	.;PDZD4_HUMAN;.	D	98;17	ENSP00000164640:E98D;ENSP00000377355:E17D	ENSP00000164640:E98D	E	-	3	2	PDZD4	152727011	0.986000	0.35501	1.000000	0.80357	0.012000	0.07955	0.262000	0.18460	2.307000	0.77673	0.596000	0.82720	GAG		PASS	0.672	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		23	59	23	59	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21468304	21468306	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr7:21468304_21468306delAGG	ENST00000222584.3	+	2	235_237	c.17_19delAGG	c.(16-21)aaggag>aag	p.E11del		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	11	Poly-Glu.				regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GATCAGAAGAAGGAGGAGGAGGA	0.517																																						uc003sva.2																			0				ovary(3)|skin(2)	5						c.(16-21)AAGGAG>AAG		Sp4 transcription factor				36,4106		7,22,2042						4.5	1.0			20	54,8024		9,36,3994	no	coding	SP4	NM_003112.3		16,58,6036	A1A1,A1R,RR		0.6685,0.8691,0.7365				90,12130				SO:0001651	inframe_deletion	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21468304_21468306delAGG		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.17_19delAGG	7.37:g.21468313_21468315delAGG	ENSP00000222584:p.Glu11del					SP4_uc003svb.2_5'UTR	p.E11del	NM_003112	NP_003103	Q02446	SP4_HUMAN			2	198_200	+			11			Poly-Glu.		O60402|Q32M52	In_Frame_Del	DEL	ENST00000222584.3	37	c.17_19delAGG	CCDS5373.1																																																																																					0.517	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		4	2	4	2	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117672527	117672527	+	Frame_Shift_Del	DEL	C	C	-			TCGA-21-1070-01A-01D-1521-08	TCGA-21-1070-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e300205-b16d-4f40-bf1b-f47410678f6d	851d0399-7892-4cd8-af4b-5d3f1bf19b07	g.chr12:117672527delC	ENST00000338101.4	-	21	3184	c.3180delG	c.(3178-3180)gggfs	p.G1060fs	NOS1_ENST00000317775.6_Frame_Shift_Del_p.G1026fs|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCTCCTGGCTCCCGTTGGTGT	0.587																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			0				ovary(3)|skin(3)|pancreas(1)	7						c.(3076-3078)GGGfs		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						39.0	43.0	41.0					12																	117672527		2047	4192	6239	SO:0001589	frameshift_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117672527delC		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3180delG	12.37:g.117672527delC	ENSP00000337459:p.Gly1060fs						p.G1026fs	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	21	3764	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1026			FAD-binding FR-type.			Frame_Shift_Del	DEL	ENST00000338101.4	37	c.3078delG	CCDS55890.1																																																																																					0.587	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			77	34	77	34	---	---	---	---
