#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SAMD11	148398	broad.mit.edu	37	1	861349	861349	+	Missense_Mutation	SNP	C	C	A	rs200686669		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:861349C>A	ENST00000342066.3	+	2	111	c.28C>A	c.(28-30)Cct>Act	p.P10T	AL645608.1_ENST00000598827.1_Missense_Mutation_p.G84V	NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	10					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCAGGTGCATCCTCCGATCTG	0.647																																						uc001abw.1		NA																	0					0						c.(28-30)CCT>ACT		sterile alpha motif domain containing 11							83.0	81.0	81.0					1																	861349		2203	4299	6502	SO:0001583	missense	148398					nucleus		g.chr1:861349C>A	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.28C>A	1.37:g.861349C>A	ENSP00000342313:p.Pro10Thr					SAMD11_uc001abv.1_Missense_Mutation_p.P10T	p.P10T	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	2	108	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	10					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	c.28C>A	CCDS2.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020672	0.75275	.	.	ENSG00000187634	ENST00000420190;ENST00000437963;ENST00000342066	.	.	.	4.52	4.52	0.55395	.	0.000000	0.51477	U	0.000100	T	0.63558	0.2521	N	0.19112	0.55	0.52099	D	0.999943	D	0.89917	1.0	D	0.85130	0.997	T	0.70004	-0.4991	9	0.87932	D	0	-11.0362	16.1984	0.82046	0.0:1.0:0.0:0.0	.	10	Q96NU1	SAM11_HUMAN	T	10	.	ENSP00000342313:P10T	P	+	1	0	SAMD11	851212	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.008000	0.76341	2.245000	0.73994	0.491000	0.48974	CCT		0.647	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		7	73	1	0	0.000274275	0.000293152	7	73				
TNFRSF4	7293	broad.mit.edu	37	1	1149108	1149108	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:1149108C>T	ENST00000379236.3	-	2	207	c.203G>A	c.(202-204)gGg>gAg	p.G68E	TNFRSF4_ENST00000453580.1_5'Flank	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	68					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAGCCCGGCCCGCACGGACG	0.692																																						uc001ade.2		NA																	0					0						c.(202-204)GGG>GAG		tumor necrosis factor receptor superfamily,							23.0	19.0	20.0					1																	1149108		2193	4294	6487	SO:0001583	missense	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1149108C>T	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.203G>A	1.37:g.1149108C>T	ENSP00000368538:p.Gly68Glu					TNFRSF4_uc001adf.2_5'UTR	p.G68E	NM_003327	NP_003318	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	2	208	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	68			TNFR-Cys 2.|Extracellular (Potential).		Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37	c.203G>A	CCDS11.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.288110	0.01387	.	.	ENSG00000186827	ENST00000379236	D	0.90133	-2.62	3.25	-5.47	0.02600	TNFR/CD27/30/40/95 cysteine-rich region (4);	2.361970	0.01924	N	0.040756	T	0.68192	0.2974	N	0.00823	-1.155	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.72858	-0.4165	10	0.02654	T	1	-0.4179	8.3534	0.32316	0.0:0.1087:0.6542:0.2371	.	68	P43489	TNR4_HUMAN	E	68	ENSP00000368538:G68E	ENSP00000368538:G68E	G	-	2	0	TNFRSF4	1138971	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.950000	0.03889	-0.964000	0.03595	-1.434000	0.01081	GGG		0.692	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			3	7	0	0	0	0	3	7				
PRAMEF17	391004	broad.mit.edu	37	1	13716862	13716862	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:13716862T>G	ENST00000376098.4	+	2	375	c.349T>G	c.(349-351)Tct>Gct	p.S117A		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	117					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACTATATGGTCTGGAGCCAG	0.527																																						uc009vnz.1		NA																	0					0						c.(349-351)TCT>GCT		PRAME family member 17							68.0	78.0	75.0					1																	13716862		2124	4223	6347	SO:0001583	missense	391004							g.chr1:13716862T>G		CCDS41264.1	1p36.21	2013-01-17			ENSG00000204479	ENSG00000204479		"""-"""	29485	protein-coding gene	gene with protein product							Standard	NM_001099851		Approved	OTTHUMG00000007909	uc009vnz.1	Q5VTA0	OTTHUMG00000007909	ENST00000376098.4:c.349T>G	1.37:g.13716862T>G	ENSP00000365266:p.Ser117Ala						p.S117A	NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	379	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	117					B2RUU4	Missense_Mutation	SNP	ENST00000376098.4	37	c.349T>G	CCDS41264.1	.	.	.	.	.	.	.	.	.	.	T	6.195	0.404229	0.11754	.	.	ENSG00000204479	ENST00000376098	T	0.05199	3.48	1.09	-0.331	0.12679	.	1.052040	0.07455	N	0.899725	T	0.06005	0.0156	L	0.41573	1.285	0.09310	N	1	P	0.35575	0.51	B	0.39840	0.311	T	0.43556	-0.9384	10	0.15499	T	0.54	.	3.7255	0.08473	0.0:0.0:0.4463:0.5537	.	117	Q5VTA0	PRA17_HUMAN	A	117	ENSP00000365266:S117A	ENSP00000365266:S117A	S	+	1	0	PRAMEF17	13589449	0.748000	0.28294	0.046000	0.18839	0.033000	0.12548	-0.132000	0.10467	-0.087000	0.12528	0.373000	0.22412	TCT		0.527	PRAMEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021780.2	NM_001099851		21	123	0	0	0	0	21	123				
HTR6	3362	broad.mit.edu	37	1	19992722	19992722	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:19992722T>C	ENST00000289753.1	+	1	943	c.476T>C	c.(475-477)tTc>tCc	p.F159S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	159					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CTCGCCTCCTTCCTGCCCCTG	0.716																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2		NA																	0				ovary(1)	1						c.(475-477)TTC>TCC		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						29.0	30.0	30.0					1																	19992722		2201	4299	6500	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992722T>C	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.476T>C	1.37:g.19992722T>C	ENSP00000289753:p.Phe159Ser						p.F159S	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	943	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	159			Helical; Name=4; (By similarity).		Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.476T>C	CCDS197.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372964	0.82573	.	.	ENSG00000158748	ENST00000289753	T	0.71817	-0.6	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.055071	0.85682	D	0.000000	T	0.79076	0.4385	L	0.54863	1.705	0.36940	D	0.892346	D	0.89917	1.0	D	0.91635	0.999	T	0.81678	-0.0824	9	.	.	.	.	12.2336	0.54503	0.0:0.0:0.0:1.0	.	159	P50406	5HT6R_HUMAN	S	159	ENSP00000289753:F159S	.	F	+	2	0	HTR6	19865309	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.142000	0.71750	1.646000	0.50622	0.402000	0.26972	TTC		0.716	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		6	39	0	0	0	0	6	39				
CYP4A11	1579	broad.mit.edu	37	1	47407103	47407103	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:47407103C>T	ENST00000310638.4	-	1	34	c.3G>A	c.(1-3)atG>atA	p.M1I	CYP4A11_ENST00000457840.2_5'Flank|CYP4A11_ENST00000462347.1_Start_Codon_SNP_p.M1I|CYP4A11_ENST00000371905.1_Start_Codon_SNP_p.M1I|CYP4A11_ENST00000371904.4_Start_Codon_SNP_p.M1I	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	1					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CAGAGACACTCATGGTGCAGC	0.597																																						uc001cqp.3		NA																	0				ovary(2)|skin(2)	4						c.(1-3)ATG>ATA		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						75.0	75.0	75.0					1																	47407103		2203	4300	6503	SO:0001582	initiator_codon_variant	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47407103C>T	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.3G>A	1.37:g.47407103C>T	ENSP00000311095:p.Met1Ile					CYP4A11_uc001cqq.2_Missense_Mutation_p.M1I|CYP4A11_uc010omm.1_RNA	p.M1I	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			1	54	-			1					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.3G>A	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	18.87	3.716099	0.68844	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.69175	-0.38;-0.33;-0.29	4.5	4.5	0.54988	.	0.612025	0.15480	N	0.260123	T	0.78886	0.4354	.	.	.	0.80722	D	1	D	0.59767	0.986	D	0.64877	0.93	T	0.79678	-0.1703	9	0.72032	D	0.01	.	11.16	0.48509	0.0:0.7972:0.2028:0.0	.	1	Q02928	CP4AB_HUMAN	I	1	ENSP00000311095:M1I;ENSP00000360971:M1I;ENSP00000360972:M1I	ENSP00000311095:M1I	M	-	3	0	CYP4A11	47179690	0.910000	0.30920	0.986000	0.45419	0.243000	0.25628	2.037000	0.41174	2.492000	0.84095	0.549000	0.68633	ATG		0.597	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	Missense_Mutation	13	91	0	0	0	0	13	91				
C1orf87	127795	broad.mit.edu	37	1	60505607	60505607	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:60505607C>T	ENST00000371201.3	-	5	836	c.729G>A	c.(727-729)aaG>aaA	p.K243K	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	243							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAACCCCTCTTAGAAAATC	0.408																																					NSCLC(75;811 1386 4923 13371 51772)	uc001czs.1		NA																	0				ovary(1)|breast(1)	2						c.(727-729)AAG>AAA		hypothetical protein LOC127795							83.0	94.0	90.0					1																	60505607		2202	4298	6500	SO:0001819	synonymous_variant	127795						calcium ion binding	g.chr1:60505607C>T	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.729G>A	1.37:g.60505607C>T							p.K243K	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN			5	821	-			243					Q6ZU07|Q8IVS0	Silent	SNP	ENST00000371201.3	37	c.729G>A	CCDS614.1																																																																																				0.408	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		17	327	0	0	0	0	17	327				
ROR1	4919	broad.mit.edu	37	1	64608106	64608106	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:64608106G>A	ENST00000371079.1	+	7	1322	c.947G>A	c.(946-948)aGc>aAc	p.S316N	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Missense_Mutation_p.S316N	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	316	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TGTTATAACAGCACAGGTGTG	0.502																																						uc001dbj.2		NA																	0				ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(946-948)AGC>AAC		receptor tyrosine kinase-like orphan receptor 1							75.0	72.0	73.0					1																	64608106		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64608106G>A	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.947G>A	1.37:g.64608106G>A	ENSP00000360120:p.Ser316Asn					ROR1_uc001dbi.3_Missense_Mutation_p.S316N|uc001dbl.2_Intron	p.S316N	NM_005012	NP_005003	Q01973	ROR1_HUMAN			7	1346	+			316			Kringle.|Extracellular (Potential).		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.947G>A	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193226	0.38707	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.66460	-0.21;-0.21	6.08	0.422	0.16457	Kringle (5);Kringle-like fold (1);	0.252494	0.27668	N	0.018347	T	0.19725	0.0474	N	0.02765	-0.5	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.05131	-1.0904	10	0.40728	T	0.16	.	9.444	0.38686	0.4702:0.0:0.5298:0.0	.	316;316	Q01973;Q66K77	ROR1_HUMAN;.	N	316;316;319	ENSP00000360121:S316N;ENSP00000360120:S316N	ENSP00000360120:S316N	S	+	2	0	ROR1	64380694	0.993000	0.37304	0.971000	0.41717	0.977000	0.68977	0.401000	0.20948	-0.166000	0.10890	-0.345000	0.07892	AGC		0.502	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		3	76	0	0	0	0	3	76				
LRRC8B	23507	broad.mit.edu	37	1	90048267	90048267	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:90048267T>A	ENST00000330947.2	+	5	418	c.58T>A	c.(58-60)Tta>Ata	p.L20I	LRRC8B_ENST00000358200.4_Missense_Mutation_p.L20I|LRRC8B_ENST00000439853.1_Missense_Mutation_p.L20I|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	20					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTATCACATCTTAAAACCATG	0.483																																						uc001dni.2		NA																	0				ovary(2)	2						c.(58-60)TTA>ATA		leucine rich repeat containing 8 family, member							157.0	145.0	149.0					1																	90048267		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90048267T>A	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.58T>A	1.37:g.90048267T>A	ENSP00000332674:p.Leu20Ile					LRRC8B_uc001dnh.2_Missense_Mutation_p.L20I|LRRC8B_uc001dnj.2_Missense_Mutation_p.L20I	p.L20I	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	7	565	+		all_lung(203;0.17)	20					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.58T>A	CCDS724.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.543048	0.86022	.	.	ENSG00000197147	ENST00000449440;ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	T;T;T	0.59906	0.23;0.23;0.23	5.39	0.251	0.15540	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.56097	D	0.000028	T	0.61060	0.2317	M	0.67700	2.07	0.38490	D	0.947957	D	0.69078	0.997	D	0.81914	0.995	T	0.66268	-0.5966	10	0.87932	D	0	.	11.1922	0.48691	0.0:0.5783:0.0:0.4217	.	20	Q6P9F7	LRC8B_HUMAN	I	20	ENSP00000332674:L20I;ENSP00000350933:L20I;ENSP00000400704:L20I	ENSP00000332674:L20I	L	+	1	2	LRRC8B	89820855	0.993000	0.37304	0.897000	0.35233	0.995000	0.86356	0.667000	0.25112	0.088000	0.17205	0.528000	0.53228	TTA		0.483	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		13	117	0	0	0	0	13	117				
COL11A1	1301	broad.mit.edu	37	1	103496741	103496741	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:103496741C>G	ENST00000370096.3	-	5	1023	c.711G>C	c.(709-711)gaG>gaC	p.E237D	COL11A1_ENST00000512756.1_Missense_Mutation_p.E237D|COL11A1_ENST00000358392.2_Missense_Mutation_p.E237D|COL11A1_ENST00000353414.4_Missense_Mutation_p.E237D	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	237	Laminin G-like.|Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACTATAATGCTCACAGTAGT	0.458																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(709-711)GAG>GAC		alpha 1 type XI collagen isoform A							106.0	94.0	98.0					1																	103496741		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103496741C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.711G>C	1.37:g.103496741C>G	ENSP00000359114:p.Glu237Asp					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E237D|COL11A1_uc001dun.2_Missense_Mutation_p.E237D|COL11A1_uc009weh.2_Missense_Mutation_p.E237D	p.E237D	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	5	1029	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	237			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.711G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725674	0.48833	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31;4.31	5.59	3.69	0.42338	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.053455	0.64402	N	0.000001	T	0.05273	0.0140	M	0.70595	2.14	0.42447	D	0.992738	P;D;B;B	0.61697	0.956;0.99;0.001;0.0	D;D;B;B	0.73380	0.931;0.98;0.006;0.002	T	0.24225	-1.0166	10	0.44086	T	0.13	.	6.6554	0.22984	0.0:0.6523:0.1348:0.2128	.	237;237;237;237	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	D	237;237;237;237;237;164	ENSP00000359114:E237D;ENSP00000351163:E237D;ENSP00000302551:E237D;ENSP00000426533:E237D;ENSP00000408640:E237D;ENSP00000410177:E164D	ENSP00000302551:E237D	E	-	3	2	COL11A1	103269329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.850000	0.27737	0.694000	0.31654	0.551000	0.68910	GAG		0.458	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		8	25	0	0	0	0	8	25				
TRIM46	80128	broad.mit.edu	37	1	155148051	155148051	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:155148051T>C	ENST00000334634.4	+	2	253	c.253T>C	c.(253-255)Tcc>Ccc	p.S85P	TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000468878.1_3'UTR|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000368383.3_Missense_Mutation_p.S85P|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000543729.1_Missense_Mutation_p.S92P|TRIM46_ENST00000368385.4_Missense_Mutation_p.S85P|TRIM46_ENST00000392451.2_Missense_Mutation_p.S85P|TRIM46_ENST00000368382.1_Missense_Mutation_p.S62P|RP11-201K10.3_ENST00000473363.2_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	85						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCCACCCCTTCCACCCGCAG	0.682																																						uc001fhs.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(253-255)TCC>CCC		tripartite motif-containing 46							41.0	42.0	42.0					1																	155148051		2203	4298	6501	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155148051T>C		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.253T>C	1.37:g.155148051T>C	ENSP00000334657:p.Ser85Pro					RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.S72P|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.S85P|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.S62P|TRIM46_uc009wpg.1_Missense_Mutation_p.S72P|TRIM46_uc009wpf.2_Missense_Mutation_p.S72P|TRIM46_uc001fhv.3_Missense_Mutation_p.S72P|TRIM46_uc001fhw.1_RNA	p.S85P	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	336	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		85					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.253T>C	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.978512	0.34942	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T	0.60797	0.68;0.45;0.63;0.38;0.16;0.22	4.53	3.33	0.38152	Zinc finger, RING-type (1);	0.418573	0.25666	N	0.029118	T	0.23611	0.0571	N	0.08118	0	0.80722	D	1	P;P;P;P;P;P	0.48294	0.908;0.652;0.838;0.851;0.851;0.531	P;B;B;B;B;B	0.45343	0.477;0.288;0.276;0.158;0.158;0.346	T	0.05435	-1.0885	10	0.37606	T	0.19	.	8.4306	0.32755	0.0:0.0:0.3735:0.6265	.	72;85;72;62;85;85	F5H5Z2;Q5VT61;B7Z3S2;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;.;TRI46_HUMAN;.	P	92;72;85;85;85;62;85	ENSP00000442719:S92P;ENSP00000357369:S85P;ENSP00000376245:S85P;ENSP00000357367:S85P;ENSP00000357366:S62P;ENSP00000334657:S85P	ENSP00000334657:S85P	S	+	1	0	TRIM46	153414675	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	2.175000	0.42491	1.805000	0.52779	0.528000	0.53228	TCC		0.682	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		4	59	0	0	0	0	4	59				
SLC9C2	284525	broad.mit.edu	37	1	173503733	173503733	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:173503733A>G	ENST00000367714.3	-	16	2286	c.1864T>C	c.(1864-1866)Tat>Cat	p.Y622H	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	622					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ATCATAGGATAAATATATATC	0.259																																						uc001giz.2		NA																	0				ovary(2)	2						c.(1864-1866)TAT>CAT		solute carrier family 9, member 11							25.0	29.0	28.0					1																	173503733		2140	4169	6309	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173503733A>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1864T>C	1.37:g.173503733A>G	ENSP00000356687:p.Tyr622His					SLC9A11_uc009wwe.2_Missense_Mutation_p.Y180H|SLC9A11_uc010pmq.1_Intron	p.Y622H	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			16	2287	-			622			Helical; (Potential).		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1864T>C	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042291	0.55003	.	.	ENSG00000162753	ENST00000367714	D	0.97404	-4.37	5.63	5.63	0.86233	.	0.258500	0.27495	N	0.019103	D	0.96632	0.8901	L	0.56769	1.78	0.80722	D	1	D	0.64830	0.994	P	0.58077	0.832	D	0.96761	0.9561	10	0.56958	D	0.05	-22.8064	12.2197	0.54428	1.0:0.0:0.0:0.0	.	622	Q5TAH2	S9A11_HUMAN	H	622	ENSP00000356687:Y622H	ENSP00000356687:Y622H	Y	-	1	0	SLC9A11	171770356	1.000000	0.71417	0.877000	0.34402	0.557000	0.35523	3.421000	0.52742	2.143000	0.66587	0.418000	0.28097	TAT		0.259	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		23	11	0	0	0	0	23	11				
ASPM	259266	broad.mit.edu	37	1	197070787	197070787	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:197070787G>A	ENST00000367409.4	-	18	7850	c.7594C>T	c.(7594-7596)Cat>Tat	p.H2532Y	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2532	IQ 27. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACAGCAGAATGCCATTGTCTG	0.343																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(7594-7596)CAT>TAT		asp (abnormal spindle)-like, microcephaly							86.0	85.0	86.0					1																	197070787		2202	4297	6499	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070787G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7594C>T	1.37:g.197070787G>A	ENSP00000356379:p.His2532Tyr					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.H380Y	p.H2532Y	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	7851	-			2532			IQ 27.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7594C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	g	2.867	-0.234909	0.05983	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.71698	-0.59	4.27	-3.52	0.04682	.	1.351300	0.04665	N	0.409672	T	0.73369	0.3578	L	0.53780	1.695	0.09310	N	1	D;B	0.57899	0.981;0.001	D;B	0.77004	0.989;0.012	T	0.63260	-0.6677	10	0.09084	T	0.74	.	3.6712	0.08275	0.0945:0.3371:0.3865:0.1818	.	518;2532	E7EQ84;Q8IZT6	.;ASPM_HUMAN	Y	2532;518	ENSP00000356379:H2532Y	ENSP00000356376:H518Y	H	-	1	0	ASPM	195337410	0.000000	0.05858	0.041000	0.18516	0.497000	0.33675	0.067000	0.14510	-0.270000	0.09285	-1.310000	0.01310	CAT		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		14	94	0	0	0	0	14	94				
NR5A2	2494	broad.mit.edu	37	1	200017505	200017505	+	Silent	SNP	A	A	G	rs578158497		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:200017505A>G	ENST00000367362.3	+	5	915	c.669A>G	c.(667-669)ctA>ctG	p.L223L	NR5A2_ENST00000236914.3_Silent_p.L177L|NR5A2_ENST00000544748.1_Silent_p.L151L	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	223					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCAAAGGCCTACCTCTGAACC	0.512													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20575	0.0		0.0	False		,,,				2504	0.0				Melanoma(179;1138 2773 15678 26136)	uc001gvb.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(667-669)CTA>CTG		nuclear receptor subfamily 5, group A, member 2							186.0	171.0	176.0					1																	200017505		2203	4300	6503	SO:0001819	synonymous_variant	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017505A>G	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.669A>G	1.37:g.200017505A>G						NR5A2_uc001gvc.2_Silent_p.L177L|NR5A2_uc009wzh.2_Silent_p.L183L|NR5A2_uc010pph.1_Silent_p.L151L	p.L223L	NM_205860	NP_995582	O00482	NR5A2_HUMAN			5	875	+	Prostate(682;0.19)		223					B4E2P3|O95642|Q147U3	Silent	SNP	ENST00000367362.3	37	c.669A>G	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	A	9.208	1.030092	0.19512	.	.	ENSG00000116833	ENST00000367357	.	.	.	5.63	1.98	0.26296	.	.	.	.	.	T	0.54481	0.1861	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42292	-0.9460	4	.	.	.	.	6.9618	0.24601	0.7415:0.1261:0.1324:0.0	.	.	.	.	C	144	.	.	Y	+	2	0	NR5A2	198284128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.023000	0.30065	0.134000	0.18681	0.460000	0.39030	TAC		0.512	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			19	112	0	0	0	0	19	112				
AGAP6	414189	broad.mit.edu	37	10	51768861	51768861	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:51768861A>G	ENST00000374056.4	+	7	1305	c.907A>G	c.(907-909)Att>Gtt	p.I303V	AGAP6_ENST00000412531.3_Missense_Mutation_p.I326V			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	303	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TATGAAGAATATTCATAAAAA	0.433																																						uc001jix.3		NA																	0				skin(1)	1						c.(976-978)ATT>GTT		ArfGAP with GTPase domain, ankyrin repeat and PH																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768861A>G		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.907A>G	10.37:g.51768861A>G	ENSP00000363168:p.Ile303Val						p.I326V	NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN			8	1374	+			326						Missense_Mutation	SNP	ENST00000374056.4	37	c.976A>G		.	.	.	.	.	.	.	.	.	.	.	1.873	-0.459822	0.04508	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.075166	0.52532	N	0.000072	T	0.07052	0.0179	N	0.01515	-0.825	0.22266	N	0.999246	B	0.13145	0.007	B	0.22601	0.04	T	0.33111	-0.9881	9	0.02654	T	1	.	2.6447	0.04981	0.5148:0.0:0.4852:0.0	.	326	C9IYN2	.	V	326;303	.	ENSP00000363168:I326V	I	+	1	0	AGAP6	51438867	1.000000	0.71417	0.352000	0.25734	0.351000	0.29236	0.969000	0.29370	0.115000	0.18071	0.113000	0.15668	ATT		0.433	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		38	200	0	0	0	0	38	200				
CACUL1	143384	broad.mit.edu	37	10	120513993	120513993	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:120513993G>A	ENST00000369151.3	-	1	765	c.282C>T	c.(280-282)tgC>tgT	p.C94C	CACUL1_ENST00000340214.4_Silent_p.C94C	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	94					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										CGGCCGCGTCGCAGCTCTTCA	0.672																																						uc001lds.1		NA																	0					0						c.(280-282)TGC>TGT		chromosome 10 open reading frame 46							24.0	27.0	26.0					10																	120513993		1880	4078	5958	SO:0001819	synonymous_variant	143384				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:120513993G>A	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.282C>T	10.37:g.120513993G>A						C10orf46_uc010qst.1_RNA	p.C94C	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN		all cancers(201;0.0131)	1	766	-		Lung NSC(174;0.142)|all_lung(145;0.175)	94					Q5XPL7|Q8IY11|Q8N7S4	Silent	SNP	ENST00000369151.3	37	c.282C>T	CCDS41570.1																																																																																				0.672	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		4	22	0	0	0	0	4	22				
SEC23IP	11196	broad.mit.edu	37	10	121685722	121685722	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:121685722G>A	ENST00000369075.3	+	13	2368	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K	SEC23IP_ENST00000543134.1_Missense_Mutation_p.E555K	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	766					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGAATCTTTTGAAGTTGGCGC	0.418																																						uc001leu.1		NA																	0				ovary(3)	3						c.(2296-2298)GAA>AAA		Sec23-interacting protein p125							153.0	154.0	153.0					10																	121685722		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121685722G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2296G>A	10.37:g.121685722G>A	ENSP00000358071:p.Glu766Lys					SEC23IP_uc010qtc.1_Missense_Mutation_p.E555K|SEC23IP_uc009xzk.1_RNA	p.E766K	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	13	2368	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	766					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.2296G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204705	0.38905	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.31510	1.49;1.51	5.71	4.81	0.61882	.	0.137252	0.64402	N	0.000004	T	0.30324	0.0761	M	0.64997	1.995	0.52501	D	0.999957	B;B	0.31548	0.328;0.136	B;B	0.29785	0.107;0.062	T	0.06356	-1.0831	10	0.14656	T	0.56	-8.456	14.5934	0.68386	0.0699:0.0:0.9301:0.0	.	555;766	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	K	766;555	ENSP00000358071:E766K;ENSP00000438773:E555K	ENSP00000358071:E766K	E	+	1	0	SEC23IP	121675712	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	7.344000	0.79328	1.428000	0.47296	-0.218000	0.12543	GAA		0.418	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			9	143	0	0	0	0	9	143				
TRIM51	84767	broad.mit.edu	37	11	55658878	55658878	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:55658878C>A	ENST00000449290.2	+	7	1221	c.1129C>A	c.(1129-1131)Ctc>Atc	p.L377I	TRIM51_ENST00000244891.3_Missense_Mutation_p.L234I	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	377	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGAGGAGGGACTCTTTCTTCT	0.463																																						uc010rip.1		NA																	0					0						c.(1129-1131)CTC>ATC		SPRY domain containing 5							30.0	31.0	31.0					11																	55658878		2105	4044	6149	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658878C>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1129C>A	11.37:g.55658878C>A	ENSP00000395086:p.Leu377Ile					SPRYD5_uc010riq.1_Missense_Mutation_p.L234I	p.L377I	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1221	+		all_epithelial(135;0.226)	377			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1129C>A		.	.	.	.	.	.	.	.	.	.	.	3.611	-0.079555	0.07141	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.61040	0.14;0.14	1.36	-2.72	0.05968	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.30510	0.0767	N	0.21194	0.64	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.31052	-0.9957	9	0.02654	T	1	.	2.7699	0.05330	0.0:0.3049:0.4061:0.2891	.	377	Q9BSJ1	SPRY5_HUMAN	I	377;234	ENSP00000395086:L377I;ENSP00000244891:L234I	ENSP00000244891:L234I	L	+	1	0	SPRYD5	55415454	0.502000	0.26107	0.001000	0.08648	0.263000	0.26337	-1.011000	0.03652	-0.512000	0.06505	0.162000	0.16502	CTC		0.463	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		8	49	1	0	2.32e-09	2.62e-09	8	49				
OR5J2	282775	broad.mit.edu	37	11	55945016	55945016	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:55945016A>C	ENST00000312298.1	+	1	923	c.923A>C	c.(922-924)aAa>aCa	p.K308T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATAGAAATGAAACATTTCCTC	0.388																																						uc010rjb.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(922-924)AAA>ACA		olfactory receptor, family 5, subfamily J,							53.0	61.0	59.0					11																	55945016		2186	4292	6478	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55945016A>C	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.923A>C	11.37:g.55945016A>C	ENSP00000310788:p.Lys308Thr						p.K308T	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	923	+	Esophageal squamous(21;0.00693)		308			Cytoplasmic (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.923A>C	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	A	9.129	1.010843	0.19277	.	.	ENSG00000174957	ENST00000312298	T	0.39229	1.09	4.07	-3.15	0.05233	.	1.165660	0.06335	N	0.706865	T	0.27063	0.0663	L	0.32530	0.975	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.26395	-1.0104	10	0.59425	D	0.04	.	1.8811	0.03228	0.3377:0.1485:0.3688:0.145	.	308	Q8NH18	OR5J2_HUMAN	T	308	ENSP00000310788:K308T	ENSP00000310788:K308T	K	+	2	0	OR5J2	55701592	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.005000	0.12855	-0.876000	0.04017	-0.340000	0.08031	AAA		0.388	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		5	18	0	0	0	0	5	18				
CTSF	8722	broad.mit.edu	37	11	66330402	66330402	+	IGR	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:66330402T>C	ENST00000310325.5	-	0	2035				CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGTAGCTTCCTTCAAGATCTT	0.612																																						uc001oio.1		NA																	0					0						c.(2524-2526)TTC>CTC		actinin, alpha 3							75.0	84.0	81.0					11																	66330402		2188	4289	6477	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66330402T>C	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330402T>C						ACTN3_uc010rpi.1_RNA	p.F842L	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			21	2542	+			842					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.2524T>C	CCDS8144.1																																																																																				0.612	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		10	75	0	0	0	0	10	75				
PPP6R3	55291	broad.mit.edu	37	11	68341612	68341612	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:68341612A>G	ENST00000393800.2	+	13	1633	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	PPP6R3_ENST00000529710.1_Missense_Mutation_p.H409R|PPP6R3_ENST00000527403.2_Missense_Mutation_p.H460R|PPP6R3_ENST00000265637.4_Missense_Mutation_p.H460R|PPP6R3_ENST00000534534.1_Missense_Mutation_p.H228R|PPP6R3_ENST00000524845.1_Missense_Mutation_p.H460R|PPP6R3_ENST00000524904.1_Missense_Mutation_p.H460R|PPP6R3_ENST00000265636.5_Missense_Mutation_p.H409R|PPP6R3_ENST00000393799.2_Missense_Mutation_p.H460R|PPP6R3_ENST00000393801.3_Missense_Mutation_p.H460R	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	460					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACATGGGACACCTAACGAGG	0.453																																						uc001onw.2		NA																	0					0						c.(1378-1380)CAC>CGC		SAPS domain family, member 3 isoform 6							179.0	150.0	160.0					11																	68341612		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68341612A>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1379A>G	11.37:g.68341612A>G	ENSP00000377389:p.His460Arg					SAPS3_uc001onv.2_Missense_Mutation_p.H460R|SAPS3_uc001ony.3_Missense_Mutation_p.H460R|SAPS3_uc001onx.2_Missense_Mutation_p.H460R|SAPS3_uc009ysh.2_Missense_Mutation_p.H409R|SAPS3_uc001onu.2_Missense_Mutation_p.H409R|SAPS3_uc010rqc.1_Missense_Mutation_p.H228R|SAPS3_uc010rqd.1_Missense_Mutation_p.H172R|SAPS3_uc001onz.2_5'Flank	p.H460R	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		13	1646	+			460					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.1379A>G	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541100	0.85917	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.62105	0.22;0.22;0.05;0.46;0.5;0.16;0.23;0.23;0.2;0.4;0.37	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.84334	0.5449	M	0.93978	3.48	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.999;0.999;0.998;0.999;0.998;1.0	D	0.88655	0.3185	10	0.87932	D	0	.	15.759	0.78063	1.0:0.0:0.0:0.0	.	172;228;409;460;460;460;460;409	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	R	460;460;228;460;460;460;460;409;409;460;196	ENSP00000377388:H460R;ENSP00000377389:H460R;ENSP00000434429:H228R;ENSP00000431415:H460R;ENSP00000265637:H460R;ENSP00000433058:H460R;ENSP00000377390:H460R;ENSP00000265636:H409R;ENSP00000437329:H409R;ENSP00000433565:H460R;ENSP00000436209:H196R	ENSP00000265636:H409R	H	+	2	0	PPP6R3	68098188	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	8.442000	0.90317	2.121000	0.65114	0.533000	0.62120	CAC		0.453	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		29	71	0	0	0	0	29	71				
CPT1A	1374	broad.mit.edu	37	11	68571514	68571514	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:68571514G>A	ENST00000265641.5	-	5	663	c.509C>T	c.(508-510)tCg>tTg	p.S170L	CPT1A_ENST00000539743.1_Missense_Mutation_p.S170L|CPT1A_ENST00000376618.2_Missense_Mutation_p.S170L|CPT1A_ENST00000540367.1_Missense_Mutation_p.S170L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	170					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GCGAGGCAGCGATGTCTGGAA	0.498																																						uc001oog.3		NA																	0				skin(2)	2						c.(508-510)TCG>TTG		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						86.0	78.0	81.0					11																	68571514		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68571514G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.509C>T	11.37:g.68571514G>A	ENSP00000265641:p.Ser170Leu					CPT1A_uc001oof.3_Missense_Mutation_p.S170L|CPT1A_uc009ysj.2_Missense_Mutation_p.S170L	p.S170L	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		5	679	-	Esophageal squamous(3;3.28e-14)		170			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.509C>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214595	0.58452	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57	5.11	3.13	0.36017	.	0.118877	0.64402	D	0.000014	D	0.92727	0.7688	M	0.82433	2.59	0.50039	D	0.999845	P;D;D	0.64830	0.674;0.969;0.994	B;P;P	0.55965	0.131;0.703;0.788	D	0.91900	0.5531	10	0.44086	T	0.13	.	14.7136	0.69251	0.0:0.4566:0.5434:0.0	.	170;170;170	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	L	170	ENSP00000439084:S170L;ENSP00000365803:S170L;ENSP00000265641:S170L;ENSP00000446108:S170L	ENSP00000265641:S170L	S	-	2	0	CPT1A	68328090	1.000000	0.71417	0.003000	0.11579	0.356000	0.29392	6.189000	0.72051	0.486000	0.27676	0.591000	0.81541	TCG		0.498	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		7	54	0	0	0	0	7	54				
NUMA1	4926	broad.mit.edu	37	11	71725761	71725761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:71725761G>A	ENST00000393695.3	-	15	3119	c.2788C>T	c.(2788-2790)Cag>Tag	p.Q930*	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.Q930*|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTGTTTCCTGCTGCTCACCT	0.607			T	RARA	APL																																	uc001orl.1		NA		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(2788-2790)CAG>TAG		nuclear mitotic apparatus protein 1							56.0	58.0	57.0					11																	71725761		2200	4293	6493	SO:0001587	stop_gained	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725761G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2788C>T	11.37:g.71725761G>A	ENSP00000377298:p.Gln930*					NUMA1_uc009ysw.1_Nonsense_Mutation_p.Q493*|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Nonsense_Mutation_p.Q930*|NUMA1_uc001orn.2_Nonsense_Mutation_p.Q493*|NUMA1_uc009ysx.1_Nonsense_Mutation_p.Q930*|NUMA1_uc001oro.1_Nonsense_Mutation_p.Q930*	p.Q930*	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	2960	-			930			Potential.			Nonsense_Mutation	SNP	ENST00000393695.3	37	c.2788C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	41	8.995282	0.99029	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652	.	.	.	5.69	2.42	0.29668	.	0.673691	0.14340	N	0.325782	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0147	0.24881	0.0686:0.11:0.5915:0.2299	.	.	.	.	X	930;930;493	.	.	Q	-	1	0	NUMA1	71403409	0.899000	0.30636	0.803000	0.32268	0.989000	0.77384	2.918000	0.48829	0.727000	0.32360	0.655000	0.94253	CAG		0.607	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			23	66	0	0	0	0	23	66				
COA4	51287	broad.mit.edu	37	11	73584274	73584274	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:73584274G>A	ENST00000355693.4	-	2	397	c.150C>T	c.(148-150)gaC>gaT	p.D50D	COA4_ENST00000537581.1_5'Flank|COA4_ENST00000541455.1_Silent_p.D59D|COA4_ENST00000545127.1_Silent_p.D50D|COA4_ENST00000537289.1_Silent_p.D50D	NM_016565.2	NP_057649.2	Q9NYJ1	COA4_HUMAN	cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)	50	CHCH.					mitochondrion (GO:0005739)											ATTGCCGCCAGTCCTGGTGCT	0.622																																						uc001ouj.2		NA																	0					0						c.(148-150)GAC>GAT		coiled-coil-helix-coiled-coil-helix domain							68.0	63.0	65.0					11																	73584274		2200	4293	6493	SO:0001819	synonymous_variant	51287							g.chr11:73584274G>A	AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Mitochondrial respiratory chain complex assembly factors"""	24604	protein-coding gene	gene with protein product		608016	"""coiled-coil-helix-coiled-coil-helix domain containing 8"""	CHCHD8		11085516, 20624914	Standard	NM_016565		Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000355693.4:c.150C>T	11.37:g.73584274G>A						CHCHD8_uc009ytw.2_RNA	p.D50D	NM_016565	NP_057649	Q9NYJ1	CHCH8_HUMAN			2	255	-	Breast(11;7.42e-05)		50			CHCH.		B2RAA0|Q69YU4	Silent	SNP	ENST00000355693.4	37	c.150C>T	CCDS8225.1																																																																																				0.622	COA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397878.1	NM_016565		8	78	0	0	0	0	8	78				
OR10S1	219873	broad.mit.edu	37	11	123847715	123847715	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:123847715G>A	ENST00000531945.1	-	1	773	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGAAATAACGATGAGGATGA	0.592																																						uc001pzm.1		NA																	0				ovary(1)|skin(1)	2						c.(682-684)ATC>ATT		olfactory receptor, family 10, subfamily S,							54.0	49.0	50.0					11																	123847715		2202	4299	6501	SO:0001819	synonymous_variant	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847715G>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.684C>T	11.37:g.123847715G>A							p.I228I	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	684	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	228			Helical; Name=5; (Potential).		B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	c.684C>T	CCDS31701.1																																																																																				0.592	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		5	46	0	0	0	0	5	46				
CPNE8	144402	broad.mit.edu	37	12	39069531	39069531	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr12:39069531C>T	ENST00000331366.5	-	18	1516	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	CPNE8_ENST00000360449.3_Missense_Mutation_p.A462T|CPNE8_ENST00000538596.2_Missense_Mutation_p.A143T|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	474	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TCAAATTCTGCTGGTCCAACA	0.318																																						uc001rls.1		NA																	0				pancreas(1)	1						c.(1420-1422)GCA>ACA		copine VIII							68.0	70.0	69.0					12																	39069531		2202	4300	6502	SO:0001583	missense	144402							g.chr12:39069531C>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1420G>A	12.37:g.39069531C>T	ENSP00000329748:p.Ala474Thr					CPNE8_uc001rlr.1_Missense_Mutation_p.A133T	p.A474T	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			18	1504	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	474			VWFA.		Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.1420G>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439247	0.83885	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.25749	1.78;1.78;1.78	5.09	4.2	0.49525	von Willebrand factor, type A (2);	0.055741	0.64402	D	0.000001	T	0.39279	0.1072	M	0.87381	2.88	0.80722	D	1	P	0.35944	0.529	B	0.38921	0.285	T	0.49698	-0.8912	10	0.66056	D	0.02	-27.9249	14.2425	0.65966	0.0:0.8491:0.1509:0.0	.	474	Q86YQ8	CPNE8_HUMAN	T	474;143;462	ENSP00000329748:A474T;ENSP00000439237:A143T;ENSP00000353633:A462T	ENSP00000329748:A474T	A	-	1	0	CPNE8	37355798	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.284000	0.65627	1.472000	0.48140	-0.195000	0.12781	GCA		0.318	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		3	65	0	0	0	0	3	65				
NUP37	79023	broad.mit.edu	37	12	102471261	102471261	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr12:102471261A>G	ENST00000552283.1	-	7	700	c.561T>C	c.(559-561)aaT>aaC	p.N187N	NUP37_ENST00000543021.1_5'Flank|NUP37_ENST00000251074.1_Silent_p.N187N|RP11-554E23.4_ENST00000552707.1_RNA			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	187					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GGATTGTTCCATTCTTCTCTG	0.363																																						uc001tjc.2		NA																	0				ovary(1)	1						c.(559-561)AAT>AAC		nucleoporin 37kDa							115.0	120.0	118.0					12																	102471261		2203	4300	6503	SO:0001819	synonymous_variant	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102471261A>G	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.561T>C	12.37:g.102471261A>G						NUP37_uc009zub.1_Silent_p.N187N	p.N187N	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN			6	626	-			187			WD 3.		Q9H644	Silent	SNP	ENST00000552283.1	37	c.561T>C	CCDS9089.1																																																																																				0.363	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		9	68	0	0	0	0	9	68				
PELI2	57161	broad.mit.edu	37	14	56755320	56755320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:56755320G>T	ENST00000267460.4	+	4	761	c.475G>T	c.(475-477)Gga>Tga	p.G159*		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	159	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ATTCGCCGCCGGATTTGACTC	0.438																																						uc001xch.2		NA																	0				ovary(1)	1						c.(475-477)GGA>TGA		pellino 2							79.0	66.0	70.0					14																	56755320		2203	4300	6503	SO:0001587	stop_gained	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56755320G>T	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.475G>T	14.37:g.56755320G>T	ENSP00000267460:p.Gly159*						p.G159*	NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN			4	761	+			159					B2RDY5	Nonsense_Mutation	SNP	ENST00000267460.4	37	c.475G>T	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	36	5.876469	0.97055	.	.	ENSG00000139946	ENST00000267460	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.5477	19.8961	0.96958	0.0:0.0:1.0:0.0	.	.	.	.	X	159	.	ENSP00000267460:G159X	G	+	1	0	PELI2	55825073	1.000000	0.71417	0.244000	0.24202	0.595000	0.36748	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	GGA		0.438	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			11	27	1	0	9.05e-12	1.03e-11	11	27				
HIF1A	3091	broad.mit.edu	37	14	62203800	62203800	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:62203800A>G	ENST00000337138.4	+	9	1487	c.1222A>G	c.(1222-1224)Atc>Gtc	p.I408V	HIF1A_ENST00000394997.1_Missense_Mutation_p.I409V|HIF1A_ENST00000557538.1_Missense_Mutation_p.I349V|HIF1A_ENST00000539097.1_Missense_Mutation_p.I432V|HIF1A_ENST00000323441.6_Missense_Mutation_p.I408V|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	408	N-terminal VHL recognition site.|ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TGGAGACACAATCATATCTTT	0.393																																						uc001xfq.2		NA																	0				kidney(3)|lung(1)	4						c.(1222-1224)ATC>GTC		hypoxia-inducible factor 1, alpha subunit							96.0	95.0	95.0					14																	62203800		2203	4300	6503	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62203800A>G	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1222A>G	14.37:g.62203800A>G	ENSP00000338018:p.Ile408Val					HIF1A_uc001xfr.2_Missense_Mutation_p.I408V|HIF1A_uc001xfs.2_Missense_Mutation_p.I409V	p.I408V	NM_001530	NP_001521	Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	9	1626	+			408			N-terminal VHL recognition site.|ODD.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.1222A>G	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.490735	0.64074	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.55760	0.62;0.62;0.5;0.6;0.6	6.01	6.01	0.97437	.	0.205321	0.49916	D	0.000138	T	0.49712	0.1573	L	0.49699	1.58	0.80722	D	1	B;B;B	0.31009	0.155;0.303;0.303	B;B;B	0.28011	0.085;0.085;0.085	T	0.49523	-0.8931	10	0.54805	T	0.06	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	409;408;408	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	V	159;349;408;409;408;349;432	ENSP00000338018:I408V;ENSP00000378446:I409V;ENSP00000323326:I408V;ENSP00000451696:I349V;ENSP00000437955:I432V	ENSP00000323326:I408V	I	+	1	0	HIF1A	61273553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.383000	0.79741	2.307000	0.77673	0.528000	0.53228	ATC		0.393	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		26	36	0	0	0	0	26	36				
SYT16	83851	broad.mit.edu	37	14	62536483	62536483	+	Missense_Mutation	SNP	G	G	A	rs190756776	byFrequency	TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:62536483G>A	ENST00000430451.2	+	2	883	c.686G>A	c.(685-687)cGt>cAt	p.R229H	SYT16_ENST00000446982.2_Missense_Mutation_p.R229H|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	229					exocytosis (GO:0006887)			p.R229L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AAATTCAGCCGTTCGTTGTTG	0.473													G|||	3	0.000599042	0.0	0.0	5008	,	,		21186	0.003		0.0	False		,,,				2504	0.0					uc001xfu.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)	1						c.(685-687)CGT>CAT		synaptotagmin XIV-like							117.0	119.0	118.0					14																	62536483		1975	4150	6125	SO:0001583	missense	83851							g.chr14:62536483G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.686G>A	14.37:g.62536483G>A	ENSP00000394700:p.Arg229His					SYT16_uc010tsd.1_Missense_Mutation_p.R229H	p.R229H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	2	883	+			229					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.686G>A	CCDS45121.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.19	1.566566	0.28003	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.37752	1.18;3.55	5.4	-5.3	0.02738	.	1.577760	0.03166	N	0.170079	T	0.23054	0.0557	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.17667	0.023;0.003	B;B	0.09377	0.004;0.002	T	0.18241	-1.0343	10	0.30854	T	0.27	-0.3326	15.5637	0.76273	0.6632:0.0:0.3368:0.0	.	229;229	B4DZH2;Q17RD7	.;SYT16_HUMAN	H	229	ENSP00000388023:R229H;ENSP00000394700:R229H	ENSP00000394700:R229H	R	+	2	0	SYT16	61606236	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.154000	0.03166	-0.937000	0.03719	0.655000	0.94253	CGT		0.473	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		14	102	0	0	0	0	14	102				
MPP5	64398	broad.mit.edu	37	14	67787776	67787776	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:67787776A>G	ENST00000261681.4	+	13	2201	c.1540A>G	c.(1540-1542)Aca>Gca	p.T514A	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.T480A	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	514	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTGCCTAGATACAACCCGGAG	0.438																																						uc001xjc.2		NA																	0				ovary(1)	1						c.(1540-1542)ACA>GCA		membrane protein, palmitoylated 5							88.0	83.0	85.0					14																	67787776		2203	4300	6503	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67787776A>G	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1540A>G	14.37:g.67787776A>G	ENSP00000261681:p.Thr514Ala					MPP5_uc001xjd.2_Missense_Mutation_p.T480A|ATP6V1D_uc001xje.2_Intron	p.T514A	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	13	2006	+			514			Guanylate kinase-like.		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.1540A>G	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.043658	0.93685	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.52983	0.64;0.64	4.97	4.97	0.65823	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85851	0.1404	10	0.87932	D	0	.	14.9581	0.71135	1.0:0.0:0.0:0.0	.	514	Q8N3R9	MPP5_HUMAN	A	514;480	ENSP00000261681:T514A;ENSP00000451488:T480A	ENSP00000261681:T514A	T	+	1	0	MPP5	66857529	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.142000	0.94618	1.971000	0.57363	0.533000	0.62120	ACA		0.438	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		3	84	0	0	0	0	3	84				
GALNT16	57452	broad.mit.edu	37	14	69805441	69805441	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:69805441C>T	ENST00000337827.4	+	10	1368	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	GALNT16_ENST00000553669.1_Silent_p.F347F|GALNT16_ENST00000448469.3_Silent_p.F347F	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	347	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GCCATGTCTTCAGGAAACGGC	0.587																																						uc010aqu.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1039-1041)TTC>TTT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							136.0	109.0	118.0					14																	69805441		2203	4300	6503	SO:0001819	synonymous_variant	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69805441C>T	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1041C>T	14.37:g.69805441C>T						GALNTL1_uc001xla.1_Silent_p.F347F|GALNTL1_uc001xlb.1_Silent_p.F347F	p.F347F	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	10	1134	+			347			Catalytic subdomain B.|Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Silent	SNP	ENST00000337827.4	37	c.1041C>T	CCDS32107.1																																																																																				0.587	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		5	89	0	0	0	0	5	89				
MYO9A	4649	broad.mit.edu	37	15	72227761	72227761	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr15:72227761T>A	ENST00000356056.5	-	17	2915	c.2443A>T	c.(2443-2445)Acc>Tcc	p.T815S	MYO9A_ENST00000424560.1_Missense_Mutation_p.T815S|MYO9A_ENST00000566885.1_Missense_Mutation_p.T435S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.T796S|MYO9A_ENST00000564571.1_Missense_Mutation_p.T815S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	815	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCAAGGAGGTGCCACTTGAT	0.393																																						uc002atl.3		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2443-2445)ACC>TCC		myosin IXA							94.0	94.0	94.0					15																	72227761		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72227761T>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2443A>T	15.37:g.72227761T>A	ENSP00000348349:p.Thr815Ser					MYO9A_uc010biq.2_Missense_Mutation_p.T435S|MYO9A_uc002atn.1_Missense_Mutation_p.T796S	p.T815S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			17	2916	-			815					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2443A>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	6.502	0.460888	0.12342	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.82893	-1.65;-1.66;-1.65	4.06	2.9	0.33743	Myosin head, motor domain (1);	.	.	.	.	T	0.66268	0.2772	N	0.16903	0.455	0.20563	N	0.999887	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.09377	0.004;0.003;0.002	T	0.47328	-0.9126	9	0.09084	T	0.74	.	8.3829	0.32483	0.0:0.0:0.1996:0.8003	.	796;796;815	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	S	815;815;796;796	ENSP00000348349:T815S;ENSP00000399162:T815S;ENSP00000398250:T796S	ENSP00000261864:T796S	T	-	1	0	MYO9A	70014815	0.628000	0.27138	0.465000	0.27155	0.969000	0.65631	1.242000	0.32755	0.582000	0.29556	0.477000	0.44152	ACC		0.393	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		13	76	0	0	0	0	13	76				
ABCA3	21	broad.mit.edu	37	16	2369816	2369816	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:2369816G>A	ENST00000301732.5	-	8	1339	c.639C>T	c.(637-639)gcC>gcT	p.A213A	ABCA3_ENST00000382381.3_Silent_p.A213A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	213					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CATGCTGCACGGCCAGGAAGC	0.652																																						uc002cpy.1		NA																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(637-639)GCC>GCT		ATP-binding cassette, sub-family A member 3							90.0	75.0	81.0					16																	2369816		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2369816G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.639C>T	16.37:g.2369816G>A						ABCA3_uc010bsk.1_Silent_p.A213A|ABCA3_uc010bsl.1_Silent_p.A213A	p.A213A	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			8	1351	-		Ovarian(90;0.17)	213					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.639C>T	CCDS10466.1																																																																																				0.652	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		10	66	0	0	0	0	10	66				
ACSM5	54988	broad.mit.edu	37	16	20442585	20442585	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:20442585G>A	ENST00000331849.4	+	10	1397	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	417					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGAGAAGAGGGGAATGTTGCC	0.522																																						uc002dhe.2		NA																	0				ovary(2)	2						c.(1249-1251)GGG>GAG		acyl-CoA synthetase medium-chain family member 5							187.0	156.0	166.0					16																	20442585		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442585G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1250G>A	16.37:g.20442585G>A	ENSP00000327916:p.Gly417Glu						p.G417E	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			10	1397	+			417					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1250G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288609	0.80914	.	.	ENSG00000183549	ENST00000331849	D	0.92595	-3.07	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.000000	0.53938	D	0.000056	D	0.97222	0.9092	H	0.95328	3.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.98628	1.0670	10	0.87932	D	0	-23.6303	16.0686	0.80907	0.0:0.0:1.0:0.0	.	417	Q6NUN0	ACSM5_HUMAN	E	417	ENSP00000327916:G417E	ENSP00000327916:G417E	G	+	2	0	ACSM5	20350086	1.000000	0.71417	0.956000	0.39512	0.873000	0.50193	7.352000	0.79404	2.119000	0.64992	0.650000	0.86243	GGG		0.522	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		18	151	0	0	0	0	18	151				
ITFG1	81533	broad.mit.edu	37	16	47294551	47294551	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:47294551C>G	ENST00000320640.6	-	11	1354	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	ITFG1_ENST00000544001.2_Missense_Mutation_p.E263Q|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	376						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E376K(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CGACGCGCCTCTTCACAGCTT	0.438																																						uc002eet.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1126-1128)GAG>CAG		integrin alpha FG-GAP repeat containing 1							131.0	118.0	123.0					16																	47294551		2202	4300	6502	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47294551C>G	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1126G>C	16.37:g.47294551C>G	ENSP00000319918:p.Glu376Gln					ITFG1_uc010vgg.1_Missense_Mutation_p.E121Q|ITFG1_uc010vgh.1_Missense_Mutation_p.E263Q	p.E376Q	NM_030790	NP_110417	Q8TB96	TIP_HUMAN			11	1188	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	376					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.1126G>C	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716125	0.15306	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.63255	-0.03;-0.03	5.21	1.83	0.25207	.	0.642473	0.15871	N	0.240552	T	0.45216	0.1331	L	0.40543	1.245	0.18873	N	0.999985	B;B	0.23806	0.091;0.027	B;B	0.15870	0.014;0.014	T	0.20840	-1.0263	10	0.15499	T	0.54	-24.5179	6.9664	0.24625	0.0:0.5218:0.0:0.4782	.	263;376	F5GXC5;Q8TB96	.;TIP_HUMAN	Q	376;36;121;263	ENSP00000319918:E376Q;ENSP00000441062:E263Q	ENSP00000319918:E376Q	E	-	1	0	ITFG1	45852052	0.002000	0.14202	0.239000	0.24122	0.789000	0.44602	1.097000	0.30988	0.594000	0.29761	0.467000	0.42956	GAG		0.438	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		7	71	0	0	0	0	7	71				
FAM96B	51647	broad.mit.edu	37	16	66969474	66969474	+	5'Flank	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:66969474C>A	ENST00000422424.2	-	0	0				CES2_ENST00000417689.1_Missense_Mutation_p.P43Q|CES2_ENST00000317091.4_Missense_Mutation_p.P43Q	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B						chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGGACAGACCCGGGGCAGCCT	0.682																																						uc002eqr.2		NA																	0					0						c.(127-129)CCG>CAG		carboxylesterase 2 isoform 1							50.0	57.0	54.0					16																	66969474		2200	4300	6500	SO:0001631	upstream_gene_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66969474C>A		CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408		16.37:g.66969474C>A	Exception_encountered					CES2_uc002eqq.2_Missense_Mutation_p.P43Q|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank	p.P43Q	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	1	1128	+		Ovarian(137;0.0563)	Error:Variant_position_missing_in_O00748_after_alignment						Missense_Mutation	SNP	ENST00000422424.2	37	c.128C>A	CCDS45506.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978401	0.53720	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.64618	-0.11;-0.11	3.83	-1.56	0.08532	.	2.607050	0.02338	N	0.074601	T	0.38161	0.1030	N	0.08118	0	0.09310	N	1	B	0.20988	0.05	B	0.12837	0.008	T	0.29274	-1.0017	10	0.87932	D	0	.	0.9157	0.01304	0.3558:0.3123:0.1744:0.1576	.	43	A8K367	.	Q	43	ENSP00000394452:P43Q;ENSP00000317842:P43Q	ENSP00000317842:P43Q	P	+	2	0	CES2	65526975	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.019000	0.13444	-0.230000	0.09840	-0.182000	0.12963	CCG		0.682	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429890.1	NM_016062		10	78	1	0	2.18e-05	2.37e-05	10	78				
CENPT	80152	broad.mit.edu	37	16	67863714	67863714	+	Silent	SNP	G	G	A	rs374799764		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:67863714G>A	ENST00000562787.1	-	12	1688	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_ENST00000564817.1_Intron|CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000440851.2_Silent_p.D380D	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	380	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19142	0.001		0.0	False		,,,				2504	0.0					uc002eun.3		NA																	0					0						c.(1138-1140)GAC>GAT		centromere protein T		G		2,4240		0,2,2119	150.0	161.0	157.0		1140	2.6	0.0	16		157	0,8474		0,0,4237	no	coding-synonymous	CENPT	NM_025082.3		0,2,6356	AA,AG,GG		0.0,0.0471,0.0157		380/562	67863714	2,12714	2121	4237	6358	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67863714G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1140C>T	16.37:g.67863714G>A						CENPT_uc002eum.3_Intron|CENPT_uc010vkc.1_Silent_p.D138D|CENPT_uc010vkd.1_Silent_p.D133D|CENPT_uc010vke.1_3'UTR	p.D380D	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	12	1689	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	380					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1140C>T	CCDS42182.1																																																																																				0.612	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		4	143	0	0	0	0	4	143				
USP6	9098	broad.mit.edu	37	17	5042701	5042701	+	Silent	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:5042701T>G	ENST00000574788.1	+	22	3460	c.1230T>G	c.(1228-1230)cgT>cgG	p.R410R	USP6_ENST00000304328.5_Silent_p.R93R|USP6_ENST00000250066.6_Silent_p.R410R|USP6_ENST00000332776.4_Silent_p.R410R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	410					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGGCATCTCGTTTTTCCACGC	0.662			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(1228-1230)CGT>CGG		ubiquitin specific protease 6							43.0	48.0	46.0					17																	5042701		2203	4300	6503	SO:0001819	synonymous_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042701T>G	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1230T>G	17.37:g.5042701T>G						USP6_uc002gav.1_Silent_p.R410R|USP6_uc010ckz.1_Silent_p.R93R|uc002gbd.2_5'Flank	p.R410R	NM_004505	NP_004496	P35125	UBP6_HUMAN			22	3460	+			410					Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.1230T>G	CCDS11069.2																																																																																				0.662	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		6	53	0	0	0	0	6	53				
MYH1	4619	broad.mit.edu	37	17	10398332	10398332	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:10398332C>T	ENST00000226207.5	-	37	5476	c.5382G>A	c.(5380-5382)gtG>gtA	p.V1794V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1794					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGGTCCTTCACCGTCTGTT	0.557																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5380-5382)GTG>GTA		myosin, heavy chain 1, skeletal muscle, adult							151.0	144.0	146.0					17																	10398332		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10398332C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5382G>A	17.37:g.10398332C>T						uc002gml.1_Intron	p.V1794V	NM_005963	NP_005954	P12882	MYH1_HUMAN			37	5476	-			1794			Potential.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.5382G>A	CCDS11155.1																																																																																				0.557	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		27	146	0	0	0	0	27	146				
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:10408543C>T	ENST00000226207.5	-	21	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2371-2373)CGA>CAA		myosin, heavy chain 1, skeletal muscle, adult							78.0	80.0	80.0					17																	10408543		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408543C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2372G>A	17.37:g.10408543C>T	ENSP00000226207:p.Arg791Gln					uc002gml.1_Intron	p.R791Q	NM_005963	NP_005954	P12882	MYH1_HUMAN			21	2466	-			791			IQ.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2372G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794663	0.50102	.	.	ENSG00000109061	ENST00000226207	T	0.71817	-0.6	5.47	5.47	0.80525	.	0.000000	0.38778	U	0.001569	T	0.64616	0.2614	L	0.40543	1.245	0.40256	D	0.978127	B	0.16166	0.016	B	0.06405	0.002	T	0.58393	-0.7644	10	0.27082	T	0.32	.	19.6961	0.96026	0.0:1.0:0.0:0.0	.	791	P12882	MYH1_HUMAN	Q	791	ENSP00000226207:R791Q	ENSP00000226207:R791Q	R	-	2	0	MYH1	10349268	0.000000	0.05858	0.999000	0.59377	0.926000	0.56050	0.400000	0.20932	2.745000	0.94114	0.650000	0.86243	CGA		0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		34	49	0	0	0	0	34	49				
ANKRD13B	124930	broad.mit.edu	37	17	27937744	27937744	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:27937744G>A	ENST00000394859.3	+	8	1018	c.864G>A	c.(862-864)cgG>cgA	p.R288R	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	288						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCCGCACACGGACAGAACATC	0.542																																						uc002hei.2		NA																	0					0						c.(862-864)CGG>CGA		ankyrin repeat domain 13B							140.0	110.0	120.0					17																	27937744		2203	4300	6503	SO:0001819	synonymous_variant	124930							g.chr17:27937744G>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.864G>A	17.37:g.27937744G>A						ANKRD13B_uc002heh.2_Silent_p.R156R|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'Flank	p.R288R	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN			8	977	+			288					Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.864G>A	CCDS11251.1																																																																																				0.542	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		6	45	0	0	0	0	6	45				
SLC39A6	25800	broad.mit.edu	37	18	33703502	33703502	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr18:33703502C>T	ENST00000590986.1	-	4	1385	c.1096G>A	c.(1096-1098)Gtt>Att	p.V366I	SLC39A6_ENST00000440549.2_Missense_Mutation_p.V91I|SLC39A6_ENST00000269187.5_Missense_Mutation_p.V366I			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	366					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						AAAGTCCCAACGGCCAGTGCC	0.393																																						uc010dmy.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1096-1098)GTT>ATT		solute carrier family 39 (zinc transporter),							181.0	180.0	180.0					18																	33703502		1868	4109	5977	SO:0001583	missense	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33703502C>T	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1096G>A	18.37:g.33703502C>T	ENSP00000465915:p.Val366Ile					SLC39A6_uc002kzj.2_Missense_Mutation_p.V91I	p.V366I	NM_012319	NP_036451	Q13433	S39A6_HUMAN			4	1386	-			366			Helical; Name=2; (Potential).		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	c.1096G>A	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312165	0.95655	.	.	ENSG00000141424	ENST00000269187;ENST00000543723;ENST00000440549	T;T	0.52057	0.68;0.68	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	N	0.21194	0.64	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.986	T	0.55457	-0.8138	10	0.44086	T	0.13	-20.1051	17.8946	0.88883	0.0:1.0:0.0:0.0	.	366;91	Q13433;Q13433-2	S39A6_HUMAN;.	I	366;91;91	ENSP00000269187:V366I;ENSP00000401139:V91I	ENSP00000269187:V366I	V	-	1	0	SLC39A6	31957500	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GTT		0.393	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			22	190	0	0	0	0	22	190				
PRR12	57479	broad.mit.edu	37	19	50099892	50099892	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr19:50099892C>T	ENST00000418929.2	+	4	2312	c.2300C>T	c.(2299-2301)cCa>cTa	p.P767L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTCCGCCCCCACCTCCCACG	0.721																																						uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(2299-2301)CCA>CTA		proline rich 12							10.0	13.0	12.0					19																	50099892		1837	3994	5831	SO:0001583	missense	57479						DNA binding	g.chr19:50099892C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2300C>T	19.37:g.50099892C>T	ENSP00000394510:p.Pro767Leu						p.P767L	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2300	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	475			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.2300C>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	8.762	0.923916	0.18056	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.66	3.66	0.41972	.	.	.	.	.	T	0.63271	0.2497	.	.	.	0.45477	D	0.998449	D	0.65815	0.995	P	0.61003	0.882	T	0.57670	-0.7771	7	0.15952	T	0.53	.	12.7271	0.57176	0.0:1.0:0.0:0.0	.	767	Q9ULL5-3	.	L	767	.	ENSP00000394510:P767L	P	+	2	0	PRR12	54791704	0.000000	0.05858	0.999000	0.59377	0.481000	0.33189	0.899000	0.28417	2.059000	0.61396	0.313000	0.20887	CCA		0.721	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	23	0	0	0	0	3	23				
SLC1A4	6509	broad.mit.edu	37	2	65245373	65245373	+	Silent	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:65245373C>G	ENST00000234256.3	+	6	1446	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L	SLC1A4_ENST00000531327.1_Silent_p.L103L	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	401					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	ACGTAGAGCTCAACGCAGGAC	0.488																																						uc010yqa.1		NA																	0				pancreas(1)	1						c.(1201-1203)CTC>CTG		solute carrier family 1, member 4 isoform 1	L-Alanine(DB00160)						143.0	131.0	135.0					2																	65245373		2203	4300	6503	SO:0001819	synonymous_variant	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65245373C>G		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1203C>G	2.37:g.65245373C>G						SLC1A4_uc010ypy.1_Silent_p.L181L|SLC1A4_uc010ypz.1_Silent_p.L103L|SLC1A4_uc010fcv.2_Silent_p.L401L|SLC1A4_uc002sdh.2_Silent_p.L181L	p.L401L	NM_003038	NP_003029	P43007	SATT_HUMAN			6	1525	+			401					B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	c.1203C>G	CCDS1879.1																																																																																				0.488	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		7	64	0	0	0	0	7	64				
ST6GAL2	84620	broad.mit.edu	37	2	107459945	107459945	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:107459945A>C	ENST00000409382.3	-	2	1099	c.489T>G	c.(487-489)ttT>ttG	p.F163L	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.F163L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.F163L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	163					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGCAGCCGGAAAAGCCCCCT	0.642																																						uc002tdq.2		NA																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(487-489)TTT>TTG		ST6 beta-galactosamide							76.0	90.0	85.0					2																	107459945		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459945A>C	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.489T>G	2.37:g.107459945A>C	ENSP00000386942:p.Phe163Leu					ST6GAL2_uc002tdr.2_Missense_Mutation_p.F163L|ST6GAL2_uc002tds.3_Missense_Mutation_p.F163L	p.F163L	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	608	-			163			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.489T>G	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	A	2.857	-0.237017	0.05944	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.27256	2.69;2.69;1.68	2.96	-2.1	0.07210	.	3.638570	0.00738	N	0.000981	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10660	-1.0620	10	0.11485	T	0.65	.	1.3321	0.02137	0.4928:0.1756:0.124:0.2076	.	163;163	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	L	163	ENSP00000355273:F163L;ENSP00000386942:F163L;ENSP00000387332:F163L	ENSP00000355273:F163L	F	-	3	2	ST6GAL2	106826377	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.687000	0.05156	-0.463000	0.06973	-0.302000	0.09304	TTT		0.642	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		19	174	0	0	0	0	19	174				
LCT	3938	broad.mit.edu	37	2	136566025	136566025	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:136566025C>G	ENST00000264162.2	-	8	3902	c.3892G>C	c.(3892-3894)Gag>Cag	p.E1298Q	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1298	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.E1298Q(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTCAAAGCCTCATTGATGTAG	0.443																																						uc002tuu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(3892-3894)GAG>CAG		lactase-phlorizin hydrolase preproprotein							231.0	215.0	220.0					2																	136566025		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566025C>G	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3892G>C	2.37:g.136566025C>G	ENSP00000264162:p.Glu1298Gln						p.E1298Q	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3903	-			1298			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3892G>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409075	0.62399	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.51817	0.69	5.9	5.9	0.94986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60151	-0.7319	10	0.48119	T	0.1	-28.5474	20.2821	0.98520	0.0:1.0:0.0:0.0	.	1298	P09848	LPH_HUMAN	Q	1298;730	ENSP00000264162:E1298Q	ENSP00000264162:E1298Q	E	-	1	0	LCT	136282495	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	7.818000	0.86416	2.786000	0.95864	0.563000	0.77884	GAG		0.443	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		25	230	0	0	0	0	25	230				
ACVR1	90	broad.mit.edu	37	2	158636996	158636996	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:158636996C>T	ENST00000263640.3	-	4	613	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	ACVR1_ENST00000410057.2_Missense_Mutation_p.G62S|ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000409283.2_Missense_Mutation_p.G62S|ACVR1_ENST00000434821.1_Missense_Mutation_p.G62S	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	62					activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	ACGTGGAAGCCATCGTTGATG	0.552																																						uc002tzm.3		NA																	0				ovary(2)|skin(1)	3						c.(184-186)GGC>AGC		activin A receptor, type I precursor	Adenosine triphosphate(DB00171)						117.0	115.0	115.0					2																	158636996		2203	4300	6503	SO:0001583	missense	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158636996C>T		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.184G>A	2.37:g.158636996C>T	ENSP00000263640:p.Gly62Ser					ACVR1_uc002tzn.3_Missense_Mutation_p.G62S|ACVR1_uc010fog.2_Missense_Mutation_p.G62S	p.G62S	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	5	523	-			62			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000263640.3	37	c.184G>A	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499745	0.85176	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057;ENST00000412025;ENST00000440523;ENST00000539637;ENST00000424669	D;D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-2.79	5.26	5.26	0.73747	TGF-beta receptor/activin receptor, type I/II (1);	0.051197	0.85682	D	0.000000	D	0.94656	0.8277	M	0.66939	2.045	0.80722	D	1	B	0.32324	0.364	B	0.39590	0.304	D	0.93974	0.7252	10	0.49607	T	0.09	.	18.4837	0.90821	0.0:1.0:0.0:0.0	.	62	Q04771	ACVR1_HUMAN	S	62	ENSP00000263640:G62S;ENSP00000387273:G62S;ENSP00000405004:G62S;ENSP00000387127:G62S;ENSP00000403006:G62S;ENSP00000401189:G62S;ENSP00000440091:G62S;ENSP00000400767:G62S	ENSP00000263640:G62S	G	-	1	0	ACVR1	158345242	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.701000	0.84566	2.458000	0.83093	0.655000	0.94253	GGC		0.552	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		19	156	0	0	0	0	19	156				
KCNH7	90134	broad.mit.edu	37	2	163302670	163302670	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:163302670C>T	ENST00000332142.5	-	7	1511	c.1412G>A	c.(1411-1413)aGa>aAa	p.R471K	KCNH7_ENST00000328032.4_Missense_Mutation_p.R464K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	471					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATATGTTGTTCTGAAGTTTAT	0.363																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0				ovary(3)|skin(2)	5						c.(1411-1413)AGA>AAA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						103.0	94.0	97.0					2																	163302670		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302670C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1412G>A	2.37:g.163302670C>T	ENSP00000331727:p.Arg471Lys					KCNH7_uc002uci.2_Missense_Mutation_p.R464K	p.R471K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			7	1624	-			471			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1412G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305741	0.95601	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98060	-4.69;-4.69	5.85	5.85	0.93711	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.89214	3.015	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.75484	0.96;0.986	D	0.99457	1.0942	10	0.72032	D	0.01	.	20.1606	0.98132	0.0:1.0:0.0:0.0	.	464;471	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	K	471;464	ENSP00000331727:R471K;ENSP00000333781:R464K	ENSP00000333781:R464K	R	-	2	0	KCNH7	163010916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.772000	0.95346	0.650000	0.86243	AGA		0.363	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		4	38	0	0	0	0	4	38				
HOXD10	3236	broad.mit.edu	37	2	176982013	176982013	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:176982013A>G	ENST00000249501.4	+	1	707	c.452A>G	c.(451-453)tAt>tGt	p.Y151C	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	151					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y151C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTCCCTGGATATTTTAGACTG	0.552																																						uc002ukj.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(451-453)TAT>TGT		homeobox D10							101.0	118.0	112.0					2																	176982013		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176982013A>G		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.452A>G	2.37:g.176982013A>G	ENSP00000249501:p.Tyr151Cys						p.Y151C	NM_002148	NP_002139	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	522	+			151					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.452A>G	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431653	0.62844	.	.	ENSG00000128710	ENST00000249501	T	0.36520	1.25	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.74258	2.255	0.80722	D	1	D	0.64830	0.994	P	0.56648	0.803	T	0.57590	-0.7785	10	0.49607	T	0.09	.	16.4892	0.84195	1.0:0.0:0.0:0.0	.	151	P28358	HXD10_HUMAN	C	151	ENSP00000249501:Y151C	ENSP00000249501:Y151C	Y	+	2	0	HOXD10	176690259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.296000	0.77279	0.533000	0.62120	TAT		0.552	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			413	142	0	0	0	0	413	142				
TTN	7273	broad.mit.edu	37	2	179586740	179586740	+	Silent	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:179586740T>C	ENST00000591111.1	-	76	21923	c.21699A>G	c.(21697-21699)aaA>aaG	p.K7233K	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.K7550K|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K6306K|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12801	Ig-like 54.				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.K6306N(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)			CCTTGTTATCTTTTGACCAAG	0.418																																						uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(18916-18918)AAA>AAG		titin isoform N2-A							263.0	247.0	252.0					2																	179586740		1930	4133	6063	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179586740T>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.21699A>G	2.37:g.179586740T>C						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.K2967K	p.K6306K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		75	19142	-			7233					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.18918A>G																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	224	0	0	0	0	23	224				
ANKAR	150709	broad.mit.edu	37	2	190592581	190592581	+	Splice_Site	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:190592581G>A	ENST00000520309.1	+	13	2723		c.e13-1		ANKAR_ENST00000431575.2_Splice_Site|ANKAR_ENST00000281412.6_Missense_Mutation_p.D654N|ANKAR_ENST00000313581.4_Splice_Site|ANKAR_ENST00000438402.2_Splice_Site	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing							integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTCATTTGAAGATGTGTTGAA	0.343																																						uc002uqw.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.e12-1		ankyrin and armadillo repeat containing							69.0	71.0	70.0					2																	190592581		2202	4300	6502	SO:0001630	splice_region_variant	150709					integral to membrane	binding	g.chr2:190592581G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2636-1G>A	2.37:g.190592581G>A						ANKAR_uc002uqu.2_Splice_Site|ANKAR_uc002uqx.1_Splice_Site|ANKAR_uc002uqy.1_5'Flank	p.D808_splice	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		12	2423	+								Q3ZCS6|Q4G0M2|Q6ZU02	Splice_Site	SNP	ENST00000520309.1	37	c.2423_splice	CCDS33351.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.80|13.80	2.346659|2.346659	0.41599|0.41599	.|.	.|.	ENSG00000151687|ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575|ENST00000281412	.|T	.|0.30981	.|1.51	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51007	.|0.1649	.|.	.|.	.|.	0.47949|0.47949	D|D	0.999559|0.999559	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43294	.|-0.9400	.|6	.|0.49607	.|T	.|0.09	.|.	18.1694|18.1694	0.89740|0.89740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|654	.|ENSP00000281412:D654N	.|ENSP00000281412:D654N	.|D	+|+	.|1	.|0	ANKAR|ANKAR	190300826|190300826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.447000|0.447000	0.32167|0.32167	6.494000|6.494000	0.73661|0.73661	2.823000|2.823000	0.97156|0.97156	0.563000|0.563000	0.77884|0.77884	.|GAT		0.343	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	Intron	11	45	0	0	0	0	11	45				
CUL3	8452	broad.mit.edu	37	2	225376094	225376094	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:225376094A>C	ENST00000264414.4	-	6	1198	c.860T>G	c.(859-861)aTg>aGg	p.M287R	CUL3_ENST00000409096.1_Missense_Mutation_p.M263R|CUL3_ENST00000409777.1_Missense_Mutation_p.M263R|CUL3_ENST00000344951.4_Missense_Mutation_p.M221R|CUL3_ENST00000432260.2_5'Flank	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	287					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATTTTTCAACATATGTACTAG	0.323																																						uc002vny.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(859-861)ATG>AGG		cullin 3							204.0	208.0	207.0					2																	225376094		2202	4300	6502	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225376094A>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.860T>G	2.37:g.225376094A>C	ENSP00000264414:p.Met287Arg					CUL3_uc010zls.1_Missense_Mutation_p.M221R|CUL3_uc010fwy.1_Missense_Mutation_p.M293R	p.M287R	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	6	1244	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	287					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.860T>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494369	0.85069	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.63	5.63	0.86233	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	H	0.95504	3.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.94015	0.7287	10	0.87932	D	0	.	16.1413	0.81528	1.0:0.0:0.0:0.0	.	221;265;287	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	R	287;221;263;263	ENSP00000264414:M287R;ENSP00000343601:M221R;ENSP00000387200:M263R;ENSP00000386525:M263R	ENSP00000264414:M287R	M	-	2	0	CUL3	225084338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.270000	0.75569	0.482000	0.46254	ATG		0.323	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			21	123	0	0	0	0	21	123				
MN1	4330	broad.mit.edu	37	22	28193871	28193871	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:28193871G>A	ENST00000302326.4	-	1	3615	c.2661C>T	c.(2659-2661)gcC>gcT	p.A887A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	887					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGGGTCCTGGGGCCCCAGGAG	0.711			T	ETV6	"""AML, meningioma"""																																	uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(2659-2661)GCC>GCT		meningioma  1							17.0	20.0	19.0					22																	28193871		1816	4067	5883	SO:0001819	synonymous_variant	4330						binding	g.chr22:28193871G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2661C>T	22.37:g.28193871G>A							p.A887A	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	3616	-			887					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.2661C>T	CCDS42998.1																																																																																				0.711	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		14	18	0	0	0	0	14	18				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496|rs146546850	byFrequency	TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:29091840_29091841TG>CA	ENST00000405598.1	-	12	1307_1308	c.1116_1117CA>TG	c.(1114-1119)tcCAag>tcTGag	p.K373E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NA	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			17	Substitution - Missense(9)|Substitution - coding silent(8)	p.K373E(2)|p.S372S(1)	kidney(8)|prostate(4)|endometrium(2)|central_nervous_system(2)|stomach(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1114-1119)TCCAAG>TCTGAG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a																																				SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840_29091841TG>CA	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116_1117delinsCA	22.37:g.29091840_29091841delinsCA	ENSP00000386087:p.Lys373Glu					CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E	p.K373E	NM_007194	NP_009125	O96017	CHK2_HUMAN			11	1188_1189	-			373			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	DNP	ENST00000405598.1	37	c.1116_1117CA>TG	CCDS13843.1																																																																																				0.416	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	51	0	0	0	0	3	51				
SLC5A1	6523	broad.mit.edu	37	22	32487710	32487710	+	Missense_Mutation	SNP	G	G	A	rs199573966		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:32487710G>A	ENST00000266088.4	+	11	1491	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R287H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	414					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GCCAAGGTCCGCAAGAGAGCA	0.522																																						uc003amc.2		NA																	0				skin(1)	1						c.(1240-1242)CGC>CAC		solute carrier family 5 (sodium/glucose							121.0	101.0	108.0					22																	32487710		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32487710G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1241G>A	22.37:g.32487710G>A	ENSP00000266088:p.Arg414His					SLC5A1_uc011alz.1_Missense_Mutation_p.R287H	p.R414H	NM_000343	NP_000334	P13866	SC5A1_HUMAN			11	1473	+			414			Cytoplasmic (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1241G>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216026	0.79352	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89270	-2.49;-2.49	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.96769	0.8945	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97498	1.0058	10	0.87932	D	0	.	19.3618	0.94442	0.0:0.0:1.0:0.0	.	414	P13866	SC5A1_HUMAN	H	414;287	ENSP00000266088:R414H;ENSP00000444898:R287H	ENSP00000266088:R414H	R	+	2	0	SLC5A1	30817710	1.000000	0.71417	0.985000	0.45067	0.135000	0.20990	9.640000	0.98453	2.820000	0.97059	0.650000	0.86243	CGC		0.522	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		33	42	0	0	0	0	33	42				
CNTN6	27255	broad.mit.edu	37	3	1320176	1320176	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:1320176A>G	ENST00000446702.2	+	5	1065	c.438A>G	c.(436-438)ccA>ccG	p.P146P	CNTN6_ENST00000539053.1_Silent_p.P74P|CNTN6_ENST00000350110.2_Silent_p.P146P			Q9UQ52	CNTN6_HUMAN	contactin 6	146	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCTGTGGCCCACCGCCACATT	0.453																																						uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(436-438)CCA>CCG		contactin 6 precursor							126.0	110.0	115.0					3																	1320176		2203	4300	6503	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1320176A>G	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.438A>G	3.37:g.1320176A>G						CNTN6_uc010hbo.2_Silent_p.P141P|CNTN6_uc011asj.1_Silent_p.P74P|CNTN6_uc003bpa.2_Silent_p.P146P	p.P146P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	5	705	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	146			Ig-like C2-type 2.		Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.438A>G	CCDS2557.1																																																																																				0.453	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		10	74	0	0	0	0	10	74				
SATB1	6304	broad.mit.edu	37	3	18391087	18391087	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:18391087G>A	ENST00000338745.6	-	11	3601	c.1867C>T	c.(1867-1869)Cgg>Tgg	p.R623W	SATB1_ENST00000417717.2_Missense_Mutation_p.R655W|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.R623W	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	623					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGGGGGAGCCGAGGGCCTGTC	0.602																																						uc003cbh.2		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(1867-1869)CGG>TGG		special AT-rich sequence binding protein 1							21.0	25.0	24.0					3																	18391087		2195	4296	6491	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18391087G>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1867C>T	3.37:g.18391087G>A	ENSP00000341024:p.Arg623Trp					SATB1_uc003cbi.2_Missense_Mutation_p.R655W|SATB1_uc003cbj.2_Missense_Mutation_p.R623W	p.R623W	NM_002971	NP_002962	Q01826	SATB1_HUMAN			11	3602	-			623					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.1867C>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628178	0.46944	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.22539	1.95;1.95;1.96	5.08	0.525	0.17072	.	0.160839	0.50627	D	0.000102	T	0.28699	0.0711	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.968;1.0	B;D	0.64321	0.432;0.924	T	0.03000	-1.1084	10	0.45353	T	0.12	-10.9552	14.0198	0.64547	0.0:0.0:0.3132:0.6868	.	655;623	Q01826-2;Q01826	.;SATB1_HUMAN	W	623;623;655	ENSP00000341024:R623W;ENSP00000399708:R623W;ENSP00000399518:R655W	ENSP00000341024:R623W	R	-	1	2	SATB1	18366091	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	1.728000	0.38105	0.466000	0.27193	0.462000	0.41574	CGG		0.602	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		10	38	0	0	0	0	10	38				
LRRC3B	116135	broad.mit.edu	37	3	26751571	26751571	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:26751571G>A	ENST00000396641.2	+	2	1000	c.408G>A	c.(406-408)ctG>ctA	p.L136L	LRRC3B_ENST00000417744.1_Silent_p.L136L|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Silent_p.L136L	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	136						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TCAATAACCTGAAGGCCAGGG	0.507																																						uc003cdp.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(406-408)CTG>CTA		leucine rich repeat containing 3B precursor							56.0	52.0	53.0					3																	26751571		2203	4300	6503	SO:0001819	synonymous_variant	116135					integral to membrane		g.chr3:26751571G>A	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.408G>A	3.37:g.26751571G>A						LRRC3B_uc003cdq.2_Silent_p.L136L	p.L136L	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN			2	997	+			136					Q5M8T0	Silent	SNP	ENST00000396641.2	37	c.408G>A	CCDS2644.1																																																																																				0.507	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		23	31	0	0	0	0	23	31				
ZCWPW2	152098	broad.mit.edu	37	3	28562601	28562601	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:28562601A>G	ENST00000383768.2	+	9	1091	c.903A>G	c.(901-903)ggA>ggG	p.G301G	ZCWPW2_ENST00000421010.1_Silent_p.G301G			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	301							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TAAATATGGGAGAAAAGGTAA	0.338																																						uc003ceh.2		NA																	0				ovary(2)	2						c.(901-903)GGA>GGG		zinc finger, CW type with PWWP domain 2							64.0	60.0	61.0					3																	28562601		2203	4300	6503	SO:0001819	synonymous_variant	152098						zinc ion binding	g.chr3:28562601A>G	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.903A>G	3.37:g.28562601A>G						ZCWPW2_uc003cei.2_Silent_p.G301G|ZCWPW2_uc010hfo.2_Silent_p.G106G	p.G301G	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN			9	1071	+			301						Silent	SNP	ENST00000383768.2	37	c.903A>G	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.953|4.953	0.177049|0.177049	0.09443|0.09443	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000457897|ENST00000419130	.|.	.|.	.|.	5.25|5.25	2.74|2.74	0.32292|0.32292	.|.	.|.	.|.	.|.	.|.	T|T	0.46814|0.46814	0.1412|0.1412	.|.	.|.	.|.	0.39190|0.39190	D|D	0.962946|0.962946	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35599|0.35599	-0.9782|-0.9782	4|4	.|.	.|.	.|.	-0.2433|-0.2433	3.9878|3.9878	0.09524|0.09524	0.7159:0.0:0.1047:0.1794|0.7159:0.0:0.1047:0.1794	.|.	.|.	.|.	.|.	G|G	124|186	.|.	.|.	E|R	+|+	2|1	0|2	ZCWPW2|ZCWPW2	28537605|28537605	0.323000|0.323000	0.24643|0.24643	0.490000|0.490000	0.27465|0.27465	0.599000|0.599000	0.36880|0.36880	1.182000|1.182000	0.32029|0.32029	0.259000|0.259000	0.21709|0.21709	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.338	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		10	20	0	0	0	0	10	20				
SCN10A	6336	broad.mit.edu	37	3	38760236	38760236	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:38760236A>C	ENST00000449082.2	-	20	3588	c.3589T>G	c.(3589-3591)Ttt>Gtt	p.F1197V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1197					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCGAACACAAAGATAAAGGTG	0.488																																						uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(3589-3591)TTT>GTT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						110.0	102.0	105.0					3																	38760236		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38760236A>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3589T>G	3.37:g.38760236A>C	ENSP00000390600:p.Phe1197Val						p.F1197V	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	20	3589	-			1197			Helical; Name=S2 of repeat III; (Potential).|III.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3589T>G	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489289	0.84962	.	.	ENSG00000185313	ENST00000449082	D	0.99032	-5.35	4.34	4.34	0.51931	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.99897	4.91	0.52099	D	0.99994	D	0.89917	1.0	D	0.91635	0.999	D	0.96911	0.9667	10	0.87932	D	0	.	13.6903	0.62542	1.0:0.0:0.0:0.0	.	1197	Q9Y5Y9	SCNAA_HUMAN	V	1197	ENSP00000390600:F1197V	ENSP00000390600:F1197V	F	-	1	0	SCN10A	38735240	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.139000	0.94554	1.828000	0.53243	0.533000	0.62120	TTT		0.488	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		7	71	0	0	0	0	7	71				
CDCP1	64866	broad.mit.edu	37	3	45160021	45160021	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:45160021C>T	ENST00000296129.1	-	2	309	c.175G>A	c.(175-177)Gtc>Atc	p.V59I	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.V59I	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	59						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTAGAAATGACGATGTAACAG	0.428																																						uc003com.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(175-177)GTC>ATC		CUB domain-containing protein 1 isoform 1							115.0	116.0	116.0					3																	45160021		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45160021C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.175G>A	3.37:g.45160021C>T	ENSP00000296129:p.Val59Ile					CDCP1_uc003con.2_Missense_Mutation_p.V59I	p.V59I	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	310	-			59			Extracellular (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.175G>A	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	4.900	0.167222	0.09339	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.43688	1.93;0.94	5.33	-10.7	0.00240	.	2.796970	0.00763	N	0.001153	T	0.18383	0.0441	N	0.13098	0.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09185	-1.0686	10	0.14656	T	0.56	.	4.39	0.11335	0.1527:0.3987:0.2992:0.1493	.	59;59	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	I	59	ENSP00000296129:V59I;ENSP00000399342:V59I	ENSP00000296129:V59I	V	-	1	0	CDCP1	45135025	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.742000	0.00191	-2.549000	0.00480	-1.036000	0.02392	GTC		0.428	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		4	94	0	0	0	0	4	94				
DHX30	22907	broad.mit.edu	37	3	47888975	47888975	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:47888975C>T	ENST00000445061.1	+	13	2466	c.2059C>T	c.(2059-2061)Cgc>Tgc	p.R687C	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Missense_Mutation_p.R648C|DHX30_ENST00000457607.1_Missense_Mutation_p.R715C|DHX30_ENST00000348968.4_Missense_Mutation_p.R659C	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	687	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					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)			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)		AGTGCAGCAGCGCCTCCAGGA	0.632																																						uc003cru.2		NA																	0				ovary(2)|skin(2)	4						c.(2059-2061)CGC>TGC		DEAH (Asp-Glu-Ala-His) box polypeptide 30							34.0	36.0	35.0					3																	47888975		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47888975C>T	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.2059C>T	3.37:g.47888975C>T	ENSP00000405620:p.Arg687Cys					DHX30_uc003crt.2_Missense_Mutation_p.R648C|MIR1226_hsa-mir-1226|MI0006313_5'Flank	p.R687C	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)	13	2485	+			687			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2059C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494467	0.44352	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.02709	4.19;4.19;4.19;4.19	5.16	5.16	0.70880	Helicase, C-terminal (2);	0.056650	0.64402	D	0.000003	T	0.07234	0.0183	L	0.49126	1.545	0.54753	D	0.999982	D;P	0.71674	0.998;0.668	P;B	0.52672	0.706;0.357	T	0.07809	-1.0753	10	0.59425	D	0.04	.	12.7062	0.57061	0.1645:0.8355:0.0:0.0	.	687;648	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	C	648;687;659;715	ENSP00000392601:R648C;ENSP00000405620:R687C;ENSP00000343442:R659C;ENSP00000394682:R715C	ENSP00000343442:R659C	R	+	1	0	DHX30	47863979	0.995000	0.38212	0.933000	0.37362	0.984000	0.73092	2.286000	0.43496	2.378000	0.81104	0.563000	0.77884	CGC		0.632	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		7	20	0	0	0	0	7	20				
EPHA3	2042	broad.mit.edu	37	3	89390112	89390112	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:89390112T>G	ENST00000336596.2	+	4	1086	c.861T>G	c.(859-861)tgT>tgG	p.C287W	EPHA3_ENST00000494014.1_Missense_Mutation_p.C287W|EPHA3_ENST00000452448.2_Missense_Mutation_p.C287W	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	287	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATATGAAGTGTGCTAAGTGCC	0.408										TSP Lung(6;0.00050)																												uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(859-861)TGT>TGG		ephrin receptor EphA3 isoform a precursor							164.0	158.0	160.0					3																	89390112		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390112T>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.861T>G	3.37:g.89390112T>G	ENSP00000337451:p.Cys287Trp	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.C287W|EPHA3_uc010hon.1_RNA	p.C287W	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1086	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	287			Extracellular (Potential).|Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.861T>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.682916	0.29872	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	D;D;D	0.86956	-2.19;-2.19;-2.19	6.17	-6.09	0.02145	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.042572	0.85682	D	0.000000	D	0.88115	0.6350	M	0.91920	3.255	0.80722	D	1	B;B	0.33964	0.002;0.434	B;B	0.38500	0.007;0.275	T	0.79952	-0.1586	9	.	.	.	.	14.3146	0.66440	0.0:0.4345:0.0:0.5655	.	287;287	P29320;P29320-2	EPHA3_HUMAN;.	W	287	ENSP00000337451:C287W;ENSP00000399926:C287W;ENSP00000419190:C287W	.	C	+	3	2	EPHA3	89472802	0.898000	0.30612	0.105000	0.21289	0.856000	0.48823	0.015000	0.13355	-1.281000	0.02399	-0.912000	0.02778	TGT		0.408	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		13	127	0	0	0	0	13	127				
KIAA1407	57577	broad.mit.edu	37	3	113699548	113699548	+	Silent	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:113699548T>C	ENST00000295878.3	-	14	2402	c.2256A>G	c.(2254-2256)aaA>aaG	p.K752K	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	752										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCTCTAGACCTTTTTTCCTTA	0.408																																						uc003eax.2		NA																	0				ovary(2)	2						c.(2254-2256)AAA>AAG		hypothetical protein LOC57577							239.0	229.0	233.0					3																	113699548		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113699548T>C	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2256A>G	3.37:g.113699548T>C						KIAA1407_uc011bin.1_RNA	p.K752K	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			14	2403	-			752					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.2256A>G	CCDS2977.1																																																																																				0.408	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		3	253	0	0	0	0	3	253				
TET2	54790	broad.mit.edu	37	4	106158042	106158042	+	Silent	SNP	T	T	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr4:106158042T>A	ENST00000540549.1	+	3	3803	c.2943T>A	c.(2941-2943)atT>atA	p.I981I	TET2_ENST00000513237.1_Silent_p.I1002I|TET2_ENST00000413648.2_Silent_p.I981I|TET2_ENST00000394764.1_Silent_p.I981I|TET2_ENST00000380013.4_Silent_p.I981I|TET2_ENST00000305737.2_Silent_p.I981I|TET2_ENST00000545826.1_Silent_p.I981I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	981					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACAGGCCAATTAAGGTGGAAC	0.473			"""Mis N, F"""		MDS																																	uc003hxk.2		NA		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		0				haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(2941-2943)ATT>ATA		tet oncogene family member 2 isoform a							114.0	96.0	102.0					4																	106158042		2203	4300	6503	SO:0001819	synonymous_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158042T>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2943T>A	4.37:g.106158042T>A						TET2_uc011cez.1_Silent_p.I1002I|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.I981I|TET2_uc003hxi.1_Silent_p.I981I	p.I981I	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3329	+		Myeloproliferative disorder(5;0.0393)	981					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.2943T>A	CCDS47120.1																																																																																				0.473	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		18	47	0	0	0	0	18	47				
FAT1	2195	broad.mit.edu	37	4	187540779	187540779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr4:187540779G>A	ENST00000441802.2	-	10	7170	c.6961C>T	c.(6961-6963)Cag>Tag	p.Q2321*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2321	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q2321*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCAAACATCTGGTATGAGATT	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6961-6963)CAG>TAG		FAT tumor suppressor 1 precursor							113.0	116.0	115.0					4																	187540779		2007	4166	6173	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540779G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6961C>T	4.37:g.187540779G>A	ENSP00000406229:p.Gln2321*	HNSCC(5;0.00058)					p.Q2321*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7149	-			2321			Extracellular (Potential).|Cadherin 21.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.6961C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	46	12.616942	0.99683	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.23	5.23	0.72850	.	0.230145	0.45867	D	0.000339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	18.9919	0.92796	0.0:0.0:1.0:0.0	.	.	.	.	X	2321;2323	.	ENSP00000260147:Q2323X	Q	-	1	0	FAT1	187777773	1.000000	0.71417	0.995000	0.50966	0.033000	0.12548	7.692000	0.84203	2.721000	0.93114	0.655000	0.94253	CAG		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		37	96	0	0	0	0	37	96				
DNAH5	1767	broad.mit.edu	37	5	13721156	13721156	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:13721156C>A	ENST00000265104.4	-	71	12336	c.12232G>T	c.(12232-12234)Ggc>Tgc	p.G4078C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4078	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTTCCTGGCCCTGGCCCATG	0.483									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12232-12234)GGC>TGC		dynein, axonemal, heavy chain 5							88.0	90.0	89.0					5																	13721156		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13721156C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12232G>T	5.37:g.13721156C>A	ENSP00000265104:p.Gly4078Cys					DNAH5_uc003jfc.2_Missense_Mutation_p.G246C	p.G4078C	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			71	12274	-	Lung NSC(4;0.00476)		4078			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12232G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602494	0.87157	.	.	ENSG00000039139	ENST00000265104	T	0.15372	2.43	5.18	5.18	0.71444	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82261	-0.0545	10	0.87932	D	0	.	19.0462	0.93020	0.0:1.0:0.0:0.0	.	4078	Q8TE73	DYH5_HUMAN	C	4078	ENSP00000265104:G4078C	ENSP00000265104:G4078C	G	-	1	0	DNAH5	13774156	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.667000	0.83888	2.567000	0.86603	0.557000	0.71058	GGC		0.483	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		17	116	1	0	5.01e-05	5.42e-05	17	116				
MTMR12	54545	broad.mit.edu	37	5	32276834	32276834	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:32276834G>T	ENST00000382142.3	-	2	266	c.96C>A	c.(94-96)aaC>aaA	p.N32K	MTMR12_ENST00000264934.5_Missense_Mutation_p.N32K|MTMR12_ENST00000280285.5_Missense_Mutation_p.N32K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	32						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTTCCTTTTCGTTTGTGTGAA	0.343																																						uc003jhq.2		NA																	0				ovary(1)	1						c.(94-96)AAC>AAA		myotubularin related protein 12							175.0	155.0	162.0					5																	32276834		2202	4300	6502	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32276834G>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.96C>A	5.37:g.32276834G>T	ENSP00000371577:p.Asn32Lys					MTMR12_uc010iuk.2_Missense_Mutation_p.N32K|MTMR12_uc010iul.2_Missense_Mutation_p.N32K	p.N32K	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			2	266	-			32					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.96C>A	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391200	0.25118	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.95272	-3.66;-3.3;-3.19	5.47	-9.54	0.00572	.	0.349061	0.32769	N	0.005669	D	0.84938	0.5583	N	0.17474	0.49	0.22213	N	0.999284	B;B;B	0.30542	0.284;0.002;0.001	B;B;B	0.35510	0.204;0.005;0.002	T	0.68887	-0.5290	10	0.05351	T	0.99	.	18.1793	0.89772	0.2721:0.0:0.7279:0.0	.	32;32;32	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	K	32	ENSP00000280285:N32K;ENSP00000371577:N32K;ENSP00000264934:N32K	ENSP00000264934:N32K	N	-	3	2	MTMR12	32312591	0.007000	0.16637	0.633000	0.29310	0.995000	0.86356	-2.863000	0.00725	-1.674000	0.01461	-0.290000	0.09829	AAC		0.343	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		3	53	1	0	0.00909568	0.00952881	3	53				
F2RL2	2151	broad.mit.edu	37	5	75914422	75914422	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:75914422A>G	ENST00000296641.4	-	2	313	c.110T>C	c.(109-111)aTt>aCt	p.I37T	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.I15T|IQGAP2_ENST00000274364.6_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	37					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAGGTCTTAATGGGTAAGGT	0.393																																						uc003kem.2		NA																	0				skin(2)|ovary(1)	3						c.(109-111)ATT>ACT		coagulation factor II (thrombin) receptor-like 2							79.0	89.0	86.0					5																	75914422		2180	4285	6465	SO:0001583	missense	2151				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity	g.chr5:75914422A>G	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.110T>C	5.37:g.75914422A>G	ENSP00000296641:p.Ile37Thr					IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.I15T	p.I37T	NM_004101	NP_004092	O00254	PAR3_HUMAN		all cancers(79;4.43e-43)	2	295	-		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)	37					B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	c.110T>C	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	A	4.206	0.037010	0.08148	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.67171	-0.25;-0.21	4.65	3.44	0.39384	.	0.566036	0.16824	N	0.198060	T	0.59783	0.2219	L	0.55481	1.735	0.09310	N	1	B	0.15141	0.012	B	0.16289	0.015	T	0.52555	-0.8560	10	0.46703	T	0.11	-0.723	9.6109	0.39663	0.9148:0.0:0.0852:0.0	.	37	O00254	PAR3_HUMAN	T	37;15	ENSP00000296641:I37T;ENSP00000426703:I15T	ENSP00000296641:I37T	I	-	2	0	F2RL2	75950178	0.041000	0.20044	0.081000	0.20488	0.243000	0.25628	1.717000	0.37991	0.610000	0.30035	0.460000	0.39030	ATT		0.393	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			3	118	0	0	0	0	3	118				
GPR98	84059	broad.mit.edu	37	5	89941887	89941887	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:89941887G>A	ENST00000405460.2	+	16	3097	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1001	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGAAGAAATGATGACCCCAT	0.343																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(3001-3003)GAT>AAT		G protein-coupled receptor 98 precursor							105.0	101.0	102.0					5																	89941887		1843	4089	5932	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89941887G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3001G>A	5.37:g.89941887G>A	ENSP00000384582:p.Asp1001Asn					GPR98_uc003kjt.2_5'UTR	p.D1001N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	16	3097	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1001			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3001G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	35	5.413268	0.96072	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.52526	0.66	5.59	5.59	0.84812	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73190	-0.4061	10	0.72032	D	0.01	.	19.5852	0.95487	0.0:0.0:1.0:0.0	.	1001	Q8WXG9	GPR98_HUMAN	N	1001	ENSP00000384582:D1001N	ENSP00000296619:D1001N	D	+	1	0	GPR98	89977643	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.624000	0.98398	2.633000	0.89246	0.585000	0.79938	GAT		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	7	0	0	0	0	5	7				
FAT2	2196	broad.mit.edu	37	5	150925423	150925423	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:150925423A>G	ENST00000261800.5	-	9	5277	c.5265T>C	c.(5263-5265)gcT>gcC	p.A1755A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1755	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACATAGGAGCATTGTCAT	0.403																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(5263-5265)GCT>GCC		FAT tumor suppressor 2 precursor							158.0	162.0	160.0					5																	150925423		2202	4300	6502	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925423A>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5265T>C	5.37:g.150925423A>G						GM2A_uc011dcs.1_Intron	p.A1755A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5278	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1755			Cadherin 15.|Extracellular (Potential).		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.5265T>C	CCDS4317.1																																																																																				0.403	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		24	113	0	0	0	0	24	113				
MAPK14	1432	broad.mit.edu	37	6	36070426	36070426	+	Splice_Site	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:36070426G>T	ENST00000229794.4	+	10	1229	c.841G>T	c.(841-843)Gct>Tct	p.A281S	MAPK14_ENST00000229795.3_Splice_Site_p.A281S|MAPK14_ENST00000468133.1_Splice_Site_p.A204S|MAPK14_ENST00000310795.4_Intron	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						CAATCCCCTGGGTAAGTTGAC	0.373																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	uc003olp.2		NA																	0				ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(841-843)GCT>TCT		mitogen-activated protein kinase 14 isoform 1							185.0	182.0	183.0					6																	36070426		2203	4300	6503	SO:0001630	splice_region_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36070426G>T	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.841+1G>T	6.37:g.36070426G>T						MAPK14_uc003olo.2_Missense_Mutation_p.G281C|MAPK14_uc003olq.2_Missense_Mutation_p.A281S|MAPK14_uc003olr.2_Intron|MAPK14_uc011dti.1_Missense_Mutation_p.A204S	p.A281S	NM_001315	NP_001306	Q16539	MK14_HUMAN			10	1322	+			281			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	37	c.841G>T	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300139	0.81136	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133	T;T;T	0.68479	-0.33;-0.33;-0.33	4.93	4.93	0.64822	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	0.80093	0.4560	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.958	D;D	0.91635	0.999;0.973	T	0.82878	-0.0239	10	0.87932	D	0	.	18.4945	0.90860	0.0:0.0:1.0:0.0	.	281;281	Q16539;Q16539-2	MK14_HUMAN;.	S	281;281;204	ENSP00000229795:A281S;ENSP00000229794:A281S;ENSP00000419837:A204S	ENSP00000229794:A281S	A	+	1	0	MAPK14	36178404	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	9.813000	0.99286	2.445000	0.82738	0.561000	0.74099	GCT		0.373	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315	Missense_Mutation	23	75	1	0	3.67e-16	4.27e-16	23	75				
DST	667	broad.mit.edu	37	6	56494141	56494141	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:56494141T>C	ENST00000361203.3	-	28	3756	c.3749A>G	c.(3748-3750)tAt>tGt	p.Y1250C	DST_ENST00000370769.4_Missense_Mutation_p.Y1250C|DST_ENST00000370754.5_Missense_Mutation_p.Y1428C|DST_ENST00000518935.1_Missense_Mutation_p.Y924C|DST_ENST00000370788.2_Missense_Mutation_p.Y1250C|DST_ENST00000370765.6_Missense_Mutation_p.Y924C|DST_ENST00000312431.6_Missense_Mutation_p.Y1250C|DST_ENST00000446842.2_Missense_Mutation_p.Y924C|DST_ENST00000244364.6_Missense_Mutation_p.Y924C|DST_ENST00000421834.2_Missense_Mutation_p.Y1250C			Q03001	DYST_HUMAN	dystonin	1250					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)			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)			CCGTTCTTTATACGTTTTAAA	0.383																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(4282-4284)TAT>TGT		dystonin isoform 2							234.0	202.0	213.0					6																	56494141		2203	4300	6503	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.chr6:56494141T>C	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.3749A>G	6.37:g.56494141T>C	ENSP00000354508:p.Tyr1250Cys					DST_uc003pcz.3_Missense_Mutation_p.Y1250C|DST_uc011dxj.1_Missense_Mutation_p.Y1279C|DST_uc011dxk.1_Missense_Mutation_p.Y1290C|DST_uc003pcy.3_Missense_Mutation_p.Y924C|DST_uc003pdb.2_Missense_Mutation_p.Y924C|DST_uc003pdc.3_Missense_Mutation_p.Y924C|DST_uc003pdd.3_Missense_Mutation_p.Y924C	p.Y1428C	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		31	4311	-	Lung NSC(77;0.103)		1250					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.4283A>G		.	.	.	.	.	.	.	.	.	.	T	21.0	4.080742	0.76528	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.82	5.82	0.92795	.	0.260994	0.27289	N	0.020053	T	0.37237	0.0996	L	0.29908	0.895	0.26467	N	0.975342	P;D;P;P;P;D;P;D	0.71674	0.948;0.993;0.948;0.704;0.898;0.998;0.948;0.967	B;P;B;B;P;D;B;P	0.68621	0.41;0.72;0.41;0.375;0.694;0.959;0.41;0.77	T	0.23404	-1.0189	9	0.40728	T	0.16	.	16.1839	0.81934	0.0:0.0:0.0:1.0	.	1250;1250;1428;924;924;924;1250;924	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	C	924;1428;1250;1250;924;1250;1250;1250;924;1290;924;924	ENSP00000244364:Y924C;ENSP00000359790:Y1428C;ENSP00000359805:Y1250C;ENSP00000400883:Y1250C;ENSP00000393645:Y924C;ENSP00000307959:Y1250C;ENSP00000359824:Y1250C;ENSP00000354508:Y1250C;ENSP00000404924:Y924C;ENSP00000431030:Y1290C;ENSP00000359801:Y924C;ENSP00000431003:Y924C	ENSP00000244364:Y924C	Y	-	2	0	DST	56602100	1.000000	0.71417	0.048000	0.18961	0.897000	0.52465	7.698000	0.84413	2.222000	0.72286	0.533000	0.62120	TAT		0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		31	67	0	0	0	0	31	67				
SYNE1	23345	broad.mit.edu	37	6	152831446	152831446	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:152831446C>T	ENST00000367255.5	-	8	1064	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	SYNE1_ENST00000367248.3_Missense_Mutation_p.V162M|SYNE1_ENST00000423061.1_Missense_Mutation_p.V162M|SYNE1_ENST00000265368.4_Missense_Mutation_p.V155M|SYNE1_ENST00000367253.4_Missense_Mutation_p.V155M|SYNE1_ENST00000413186.2_Missense_Mutation_p.V155M|SYNE1_ENST00000466159.2_Missense_Mutation_p.V155M|SYNE1_ENST00000448038.1_Missense_Mutation_p.V162M|SYNE1_ENST00000341594.5_Missense_Mutation_p.V155M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	155	Actin-binding.				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)			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)		ATGCTGTCCACGGAGGATGCG	0.473										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(463-465)GTG>ATG		spectrin repeat containing, nuclear envelope 1							134.0	117.0	123.0					6																	152831446		2203	4300	6503	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.chr6:152831446C>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.463G>A	6.37:g.152831446C>T	ENSP00000356224:p.Val155Met	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.V162M|SYNE1_uc003qou.3_Missense_Mutation_p.V155M|SYNE1_uc010kjb.1_Missense_Mutation_p.V155M|SYNE1_uc003qpa.1_Missense_Mutation_p.V155M	p.V155M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	8	1065	-		Ovarian(120;0.0955)	155			Actin-binding.|Cytoplasmic (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.463G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200654	0.38905	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.91894	0.51;0.53;0.42;0.53;0.62;-2.31;-2.45;-2.44;-2.73;-2.93	5.66	3.5	0.40072	Calponin homology domain (1);	0.111432	0.39475	N	0.001347	D	0.85168	0.5635	M	0.69248	2.105	0.46609	D	0.999123	P;B;P;B;P	0.41710	0.76;0.386;0.565;0.386;0.759	B;B;B;B;B	0.35770	0.086;0.077;0.21;0.052;0.112	D	0.85848	0.1402	10	0.49607	T	0.09	.	12.1623	0.54110	0.0:0.8011:0.1241:0.0749	.	155;155;155;155;162	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	M	155;162;155;162;155;155;162;155;155;155	ENSP00000356224:V155M;ENSP00000396024:V162M;ENSP00000265368:V155M;ENSP00000390975:V162M;ENSP00000341887:V155M;ENSP00000356222:V155M;ENSP00000356217:V162M;ENSP00000414510:V155M;ENSP00000446021:V155M;ENSP00000441264:V155M	ENSP00000265368:V155M	V	-	1	0	SYNE1	152873139	0.035000	0.19736	0.944000	0.38274	0.943000	0.58893	0.457000	0.21875	1.365000	0.46057	0.637000	0.83480	GTG		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	67	0	0	0	0	4	67				
CNKSR3	154043	broad.mit.edu	37	6	154763230	154763230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:154763230C>T	ENST00000607772.1	-	3	955	c.411G>A	c.(409-411)tgG>tgA	p.W137*	CNKSR3_ENST00000479339.1_Nonsense_Mutation_p.W57*	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	137	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ACCGGTCCAGCCACGCCAGCA	0.562																																						uc003qpy.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(409-411)TGG>TGA		CNKSR family member 3							40.0	41.0	41.0					6																	154763230		2203	4300	6503	SO:0001587	stop_gained	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154763230C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.411G>A	6.37:g.154763230C>T	ENSP00000475915:p.Trp137*						p.W137*	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	3	916	-		Ovarian(120;0.196)	137			CRIC.		Q5SGD5|Q96N65	Nonsense_Mutation	SNP	ENST00000607772.1	37	c.411G>A	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	41	8.817684	0.98964	.	.	ENSG00000153721	ENST00000367213;ENST00000479339	.	.	.	5.91	5.91	0.95273	.	0.059952	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0639	0.71977	0.1419:0.8581:0.0:0.0	.	.	.	.	X	137;57	.	ENSP00000356182:W137X	W	-	3	0	CNKSR3	154804922	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	5.581000	0.67471	2.803000	0.96430	0.655000	0.94253	TGG		0.562	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		3	40	0	0	0	0	3	40				
CCDC146	57639	broad.mit.edu	37	7	76909918	76909918	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:76909918A>G	ENST00000285871.4	+	14	1994	c.1867A>G	c.(1867-1869)Atg>Gtg	p.M623V	CCDC146_ENST00000431197.1_Missense_Mutation_p.M337V|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	623										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CGAAGAGGAGATGGTGCAGCT	0.408																																						uc003uga.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1867-1869)ATG>GTG		coiled-coil domain containing 146							101.0	85.0	91.0					7																	76909918		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76909918A>G	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1867A>G	7.37:g.76909918A>G	ENSP00000285871:p.Met623Val					CCDC146_uc010ldp.2_Missense_Mutation_p.M337V|CCDC146_uc003ugc.2_5'Flank	p.M623V	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			14	1994	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	623			Potential.		A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.1867A>G	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750182	0.49257	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.39406	1.08;1.08	6.08	6.08	0.98989	.	0.194344	0.56097	D	0.000040	T	0.42177	0.1191	L	0.59436	1.845	0.40720	D	0.98265	B;B	0.25563	0.129;0.079	B;B	0.26770	0.037;0.073	T	0.28038	-1.0056	10	0.22706	T	0.39	-28.9119	16.3126	0.82898	1.0:0.0:0.0:0.0	.	337;623	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	V	623;337	ENSP00000285871:M623V;ENSP00000413885:M337V	ENSP00000285871:M623V	M	+	1	0	AC007000.1	76747854	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.738000	0.55067	2.333000	0.79357	0.482000	0.46254	ATG		0.408	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		5	13	0	0	0	0	5	13				
MUC17	140453	broad.mit.edu	37	7	100683015	100683015	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:100683015C>T	ENST00000306151.4	+	3	8382	c.8318C>T	c.(8317-8319)aCa>aTa	p.T2773I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2773	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCGTTTCAACAACTGCTGTT	0.488																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8317-8319)ACA>ATA		mucin 17 precursor							253.0	244.0	247.0					7																	100683015		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683015C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8318C>T	7.37:g.100683015C>T	ENSP00000302716:p.Thr2773Ile					MUC17_uc010lho.1_RNA	p.T2773I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8371	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2773			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8318C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	7.219	0.596891	0.13875	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.661	-0.424	0.12321	.	.	.	.	.	T	0.03348	0.0097	N	0.20986	0.625	0.09310	N	1	D	0.58970	0.984	P	0.59595	0.86	T	0.47995	-0.9073	9	0.30854	T	0.27	.	5.0816	0.14659	0.0:0.7455:0.0:0.2544	.	2773	Q685J3	MUC17_HUMAN	I	2773	ENSP00000302716:T2773I	ENSP00000302716:T2773I	T	+	2	0	MUC17	100469735	0.167000	0.22975	0.000000	0.03702	0.029000	0.11900	1.964000	0.40462	-0.186000	0.10533	0.121000	0.15741	ACA		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		63	368	0	0	0	0	63	368				
CSMD1	64478	broad.mit.edu	37	8	3265649	3265649	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:3265649T>G	ENST00000520002.1	-	15	2401	c.1846A>C	c.(1846-1848)Atc>Ctc	p.I616L	CSMD1_ENST00000537824.1_Missense_Mutation_p.I615L|CSMD1_ENST00000602723.1_Missense_Mutation_p.I616L|CSMD1_ENST00000400186.3_Missense_Mutation_p.I616L|CSMD1_ENST00000542608.1_Missense_Mutation_p.I615L|CSMD1_ENST00000602557.1_Missense_Mutation_p.I616L|CSMD1_ENST00000539096.1_Missense_Mutation_p.I615L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	616	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCTCCGAGATAATCAACCAG	0.403																																						uc011kwk.1		NA																	0		p.E616K(4)		breast(20)|large_intestine(5)	25						c.(1846-1848)ATC>CTC		CUB and Sushi multiple domains 1 precursor							56.0	49.0	51.0					8																	3265649		1875	4102	5977	SO:0001583	missense	64478					integral to membrane		g.chr8:3265649T>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1846A>C	8.37:g.3265649T>G	ENSP00000430733:p.Ile616Leu					CSMD1_uc011kwj.1_Missense_Mutation_p.I8L	p.I616L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	14	2236	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	616			Extracellular (Potential).|CUB 4.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1846A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.68|11.68	1.710454|1.710454	0.30322|0.30322	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.16897|.	2.31;2.31;2.31;2.31;2.31|.	5.23|5.23	5.23|5.23	0.72850|0.72850	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50548|0.50548	0.1622|0.1622	N|N	0.20401|0.20401	0.57|0.57	0.43919|0.43919	D|D	0.996565|0.996565	P;B|.	0.44478|.	0.836;0.024|.	D;B|.	0.66084|.	0.941;0.101|.	T|T	0.47699|0.47699	-0.9097|-0.9097	10|5	0.10111|.	T|.	0.7|.	.|.	15.1177|15.1177	0.72416|0.72416	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	616;616|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	L|S	616;616;478;615;615;615|95	ENSP00000383047:I616L;ENSP00000430733:I616L;ENSP00000441462:I615L;ENSP00000446243:I615L;ENSP00000441675:I615L|.	ENSP00000320445:I478L|.	I|Y	-|-	1|2	0|0	CSMD1|CSMD1	3253056|3253056	1.000000|1.000000	0.71417|0.71417	0.423000|0.423000	0.26634|0.26634	0.904000|0.904000	0.53231|0.53231	5.992000|5.992000	0.70609|0.70609	1.973000|1.973000	0.57446|0.57446	0.383000|0.383000	0.25322|0.25322	ATC|TAT		0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	23	0	0	0	0	5	23				
RP1L1	94137	broad.mit.edu	37	8	10466397	10466397	+	Silent	SNP	C	C	A	rs201594207		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:10466397C>A	ENST00000382483.3	-	4	5434	c.5211G>T	c.(5209-5211)ggG>ggT	p.G1737G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1817					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCACTCCAGGCCCCTGGCTCA	0.657																																						uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5209-5211)GGG>GGT		retinitis pigmentosa 1-like 1							84.0	92.0	90.0					8																	10466397		1963	4159	6122	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10466397C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5211G>T	8.37:g.10466397C>A							p.G1737G	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5440	-			1737					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.5211G>T	CCDS43708.1																																																																																				0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			12	123	1	0	1.09e-07	1.21e-07	12	123				
POTEA	340441	broad.mit.edu	37	8	43173712	43173712	+	RNA	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:43173712C>T	ENST00000522175.2	+	0	998							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAGAAAGAGCAGAAAGCATG	0.403																																						uc003xpz.1		NA																	0				ovary(1)	1						c.(1132-1134)AGC>AGT		POTE ankyrin domain family, member A isoform 2							146.0	143.0	144.0					8																	43173712		2192	4294	6486			340441							g.chr8:43173712C>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43173712C>T						POTEA_uc003xqa.1_Silent_p.S332S	p.S378S	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			9	1177	+			378					A6ND17|A6ND71|Q6S8J6	Silent	SNP	ENST00000522175.2	37	c.1134C>T																																																																																					0.403	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		11	71	0	0	0	0	11	71				
SLC25A32	81034	broad.mit.edu	37	8	104415406	104415406	+	Missense_Mutation	SNP	G	G	A	rs374025789		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:104415406G>A	ENST00000297578.4	-	4	704	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C	SLC25A32_ENST00000523701.1_5'Flank|SLC25A32_ENST00000543107.1_Missense_Mutation_p.R48C	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	180					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TATAATCCACGCACACCTTCA	0.318																																						uc003yll.2		NA																	0				ovary(1)	1						c.(538-540)CGT>TGT		solute carrier family 25, member 32	Folic Acid(DB00158)	G	CYS/ARG	0,4404		0,0,2202	57.0	54.0	55.0		538	5.9	1.0	8		55	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC25A32	NM_030780.3	180	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	180/316	104415406	2,13002	2202	4300	6502	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104415406G>A	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.538C>T	8.37:g.104415406G>A	ENSP00000297578:p.Arg180Cys					SLC25A32_uc011lhr.1_Missense_Mutation_p.R48C	p.R180C	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		4	841	-			180			Solcar 2.		Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.538C>T	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376719	0.82682	0.0	2.33E-4	ENSG00000164933	ENST00000297578;ENST00000424899;ENST00000543107	T;T	0.80909	-1.43;-1.43	5.91	5.91	0.95273	Mitochondrial carrier domain (2);	0.095984	0.64402	D	0.000001	D	0.90638	0.7064	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.90875	0.4749	10	0.72032	D	0.01	-24.3316	20.2927	0.98543	0.0:0.0:1.0:0.0	.	180	Q9H2D1	MFTC_HUMAN	C	180;164;48	ENSP00000297578:R180C;ENSP00000443497:R48C	ENSP00000297578:R180C	R	-	1	0	SLC25A32	104484582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.056000	0.71111	2.809000	0.96659	0.579000	0.79373	CGT		0.318	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		3	27	0	0	0	0	3	27				
CSMD3	114788	broad.mit.edu	37	8	113347570	113347570	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:113347570G>A	ENST00000297405.5	-	45	7397	c.7153C>T	c.(7153-7155)Ctc>Ttc	p.L2385F	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2315F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2345F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2281F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2385	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TGATAACTGAGCACAAAAAAG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				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.(7153-7155)CTC>TTC		CUB and Sushi multiple domains 3 isoform 1							95.0	91.0	93.0					8																	113347570		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113347570G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7153C>T	8.37:g.113347570G>A	ENSP00000297405:p.Leu2385Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L1587F|CSMD3_uc003ynt.2_Missense_Mutation_p.L2345F|CSMD3_uc011lhx.1_Missense_Mutation_p.L2281F|CSMD3_uc003ynw.1_Missense_Mutation_p.L96F	p.L2385F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			45	7312	-			2385			Extracellular (Potential).|CUB 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7153C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314893	0.60524	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	4.68	4.68	0.58851	CUB (4);	0.000000	0.64402	D	0.000012	T	0.69097	0.3073	L	0.39085	1.19	0.44302	D	0.997178	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.986	T	0.61202	-0.7110	10	0.10377	T	0.69	.	18.1293	0.89596	0.0:0.0:1.0:0.0	.	2281;2385;2345	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2345;2385;1655;2281;2315	ENSP00000345799:L2345F;ENSP00000297405:L2385F;ENSP00000341558:L1655F;ENSP00000412263:L2281F;ENSP00000343124:L2315F	ENSP00000297405:L2385F	L	-	1	0	CSMD3	113416746	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.307000	0.59123	2.592000	0.87571	0.585000	0.79938	CTC		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	28	0	0	0	0	8	28				
TLE4	7091	broad.mit.edu	37	9	82320810	82320810	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr9:82320810G>T	ENST00000376552.2	+	10	1754	c.736G>T	c.(736-738)Gat>Tat	p.D246Y	TLE4_ENST00000265284.6_Missense_Mutation_p.D221Y|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Missense_Mutation_p.D246Y|TLE4_ENST00000376520.4_Missense_Mutation_p.D246Y|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	246	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCAGGACAGCGATGGTGAGAA	0.398																																						uc004ald.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(715-717)GAT>TAT		transducin-like enhancer protein 4							312.0	308.0	309.0					9																	82320810		1972	4172	6144	SO:0001583	missense	7091							g.chr9:82320810G>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.736G>T	9.37:g.82320810G>T	ENSP00000365735:p.Asp246Tyr					TLE4_uc004alc.2_Missense_Mutation_p.D246Y|TLE4_uc010mpr.2_Missense_Mutation_p.D125Y|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.D214Y|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Missense_Mutation_p.D185Y	p.D239Y	NM_007005	NP_008936	O60756	BCE1_HUMAN			10	1564	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.715G>T	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.746012|4.746012	0.89663|0.89663	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376520;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347|ENST00000496114	T;T;T;T;T;T|.	0.69435|.	-0.13;-0.32;-0.4;-0.13;0.59;0.67|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85349|0.85349	0.5676|0.5676	M|M	0.88640|0.88640	2.97|2.97	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.994;0.997;0.993|.	D|D	0.86079|0.86079	0.1543|0.1543	10|5	0.87932|.	D|.	0|.	-21.5672|-21.5672	20.4135|20.4135	0.99023|0.99023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	221;246;246|.	F8W6T6;Q04727-3;Q04727|.	.;.;TLE4_HUMAN|.	Y|L	246;246;246;221;231;116|36	ENSP00000365735:D246Y;ENSP00000365703:D246Y;ENSP00000365720:D246Y;ENSP00000265284:D221Y;ENSP00000409313:D231Y;ENSP00000417844:D116Y|.	ENSP00000265284:D221Y|.	D|R	+|+	1|2	0|0	TLE4|TLE4	81510630|81510630	1.000000|1.000000	0.71417|0.71417	0.892000|0.892000	0.35008|0.35008	0.819000|0.819000	0.46315|0.46315	9.476000|9.476000	0.97823|0.97823	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GAT|CGA		0.398	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		48	65	1	0	3.77e-20	4.4e-20	48	65				
CDKL5	6792	broad.mit.edu	37	X	18593592	18593592	+	Silent	SNP	G	G	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:18593592G>C	ENST00000379989.3	+	6	549	c.264G>C	c.(262-264)gtG>gtC	p.V88V	CDKL5_ENST00000379996.3_Silent_p.V88V	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGTACTTGGTGTTTGAGTATG	0.378																																						uc004cym.2		NA																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(262-264)GTG>GTC		cyclin-dependent kinase-like 5							182.0	167.0	172.0					X																	18593592		2203	4300	6503	SO:0001819	synonymous_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18593592G>C	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.264G>C	X.37:g.18593592G>C						CDKL5_uc004cyn.2_Silent_p.V88V	p.V88V	NM_003159	NP_003150	O76039	CDKL5_HUMAN			5	517	+	Hepatocellular(33;0.183)		88			Protein kinase.		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.264G>C	CCDS14186.1																																																																																				0.378	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		26	91	0	0	0	0	26	91				
PDHA1	5160	broad.mit.edu	37	X	19377655	19377655	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:19377655G>A	ENST00000422285.2	+	11	1162	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T	PDHA1_ENST00000545074.1_Missense_Mutation_p.A360T|PDHA1_ENST00000379806.5_Missense_Mutation_p.A391T|PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000379804.1_Missense_Mutation_p.A72T|MAP3K15_ENST00000518578.1_5'Flank|PDHA1_ENST00000540249.1_Missense_Mutation_p.A322T			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	353					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TGCCCAGTTTGCCACGGCCGA	0.473																																						uc004czg.3		NA																	0				ovary(1)	1	GRCh37	CM014822	PDHA1	M		c.(1057-1059)GCC>ACC		pyruvate dehydrogenase E1 alpha 1 precursor	NADH(DB00157)						113.0	98.0	103.0					X																	19377655		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19377655G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.1057G>A	X.37:g.19377655G>A	ENSP00000394382:p.Ala353Thr					PDHA1_uc004czh.3_Missense_Mutation_p.A388T|PDHA1_uc011mjc.1_Missense_Mutation_p.A357T|PDHA1_uc011mjd.1_Missense_Mutation_p.A319T|PDHA1_uc010nfk.2_Missense_Mutation_p.A291T|PDHA1_uc010nfl.2_Missense_Mutation_p.A144T	p.A353T	NM_000284	NP_000275	P08559	ODPA_HUMAN			11	1202	+	Hepatocellular(33;0.183)		353					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.1057G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650635	0.87958	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285;ENST00000379804	D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14	5.63	5.63	0.86233	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	H	0.94734	3.575	0.80722	D	1	D;P;P;D;P	0.59767	0.986;0.939;0.906;0.972;0.906	D;P;P;P;P	0.64776	0.929;0.788;0.745;0.89;0.745	D	0.99568	1.0970	10	0.87932	D	0	-23.4978	18.9073	0.92467	0.0:0.0:1.0:0.0	.	322;360;353;391;353	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	T	391;360;322;353;72	ENSP00000369134:A391T;ENSP00000438550:A360T;ENSP00000440761:A322T;ENSP00000394382:A353T;ENSP00000369132:A72T	ENSP00000369132:A72T	A	+	1	0	PDHA1	19287576	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.496000	0.81526	2.499000	0.84300	0.513000	0.50165	GCC		0.473	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			42	93	0	0	0	0	42	93				
DMD	1756	broad.mit.edu	37	X	31950341	31950341	+	Silent	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:31950341T>C	ENST00000357033.4	-	46	6824	c.6618A>G	c.(6616-6618)ctA>ctG	p.L2206L	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Silent_p.L2202L|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	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	2206					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)			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)				TTTGTTCTTCTAGCCTGGAGA	0.303																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6616-6618)CTA>CTG		dystrophin Dp427m isoform							48.0	45.0	46.0					X																	31950341		2201	4297	6498	SO:0001819	synonymous_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:31950341T>C	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.6618A>G	X.37:g.31950341T>C						DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.L862L|DMD_uc004dcx.2_Silent_p.L865L|DMD_uc004dcz.2_Silent_p.L2083L|DMD_uc004dcy.1_Silent_p.L2202L|DMD_uc004ddb.1_Silent_p.L2198L|DMD_uc010ngo.1_Silent_p.L115L|DMD_uc010ngn.1_Intron	p.L2206L	NM_004006	NP_003997	P11532	DMD_HUMAN			46	6862	-		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)	2206			Spectrin 15.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.6618A>G	CCDS14233.1																																																																																				0.303	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		8	44	0	0	0	0	8	44				
CCNB3	85417	broad.mit.edu	37	X	50028249	50028249	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:50028249C>T	ENST00000376042.1	+	3	384	c.86C>T	c.(85-87)cCa>cTa	p.P29L	CCNB3_ENST00000376038.1_Missense_Mutation_p.P29L|CCNB3_ENST00000276014.7_Missense_Mutation_p.P29L|CCNB3_ENST00000348603.2_Missense_Mutation_p.P29L			Q8WWL7	CCNB3_HUMAN	cyclin B3	29					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)				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)					CATCATGACCCATCTGAAAAG	0.458																																						uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(85-87)CCA>CTA		cyclin B3 isoform 3							117.0	92.0	101.0					X																	50028249		2203	4300	6503	SO:0001583	missense	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:50028249C>T	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.86C>T	X.37:g.50028249C>T	ENSP00000365210:p.Pro29Leu					CCNB3_uc004doy.2_Missense_Mutation_p.P29L|CCNB3_uc004doz.2_Missense_Mutation_p.P29L|CCNB3_uc010njq.2_5'UTR	p.P29L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			3	384	+	Ovarian(276;0.236)		29					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.86C>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279839	0.23392	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000396540;ENST00000276014	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	4.09	-2.89	0.05665	.	.	.	.	.	T	0.05593	0.0147	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42882	-0.9425	8	.	.	.	.	1.0451	0.01568	0.2841:0.3554:0.206:0.1546	.	29;29	Q8WWL7-2;Q8WWL7	.;CCNB3_HUMAN	L	29	ENSP00000365210:P29L;ENSP00000365206:P29L;ENSP00000338682:P29L;ENSP00000276014:P29L	.	P	+	2	0	CCNB3	50044989	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.094000	0.11094	-0.695000	0.05105	-0.487000	0.04747	CCA		0.458	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			6	75	0	0	0	0	6	75				
ITIH6	347365	broad.mit.edu	37	X	54783977	54783977	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:54783977T>C	ENST00000218436.6	-	8	2559	c.2530A>G	c.(2530-2532)Atc>Gtc	p.I844V		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	844	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GACAAGAGGATTCCAGGCCCC	0.507																																						uc004dtj.2		NA																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2530-2532)ATC>GTC		inter-alpha (globulin) inhibitor H5-like							98.0	92.0	94.0					X																	54783977		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783977T>C	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2530A>G	X.37:g.54783977T>C	ENSP00000218436:p.Ile844Val						p.I844V	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2560	-			844			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2530A>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	T	7.854	0.724598	0.15439	.	.	ENSG00000102313	ENST00000218436	T	0.02015	4.5	3.8	-0.619	0.11572	.	1.325770	0.05625	U	0.580707	T	0.01421	0.0046	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.49194	-0.8965	10	0.19147	T	0.46	.	1.957	0.03378	0.1555:0.1122:0.1565:0.5758	.	844	Q6UXX5	ITH5L_HUMAN	V	844	ENSP00000218436:I844V	ENSP00000218436:I844V	I	-	1	0	ITIH5L	54800702	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.089000	0.15002	0.248000	0.21435	0.380000	0.24917	ATC		0.507	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		37	113	0	0	0	0	37	113				
AMER1	139285	broad.mit.edu	37	X	63410937	63410937	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:63410937C>G	ENST00000330258.3	-	2	2502	c.2230G>C	c.(2230-2232)Gcc>Ccc	p.A744P	AMER1_ENST00000403336.1_Missense_Mutation_p.A744P|AMER1_ENST00000374869.3_Missense_Mutation_p.A744P	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	744					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)									GTAGGGTAGGCCCTCCTGGGA	0.502																																						uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(2230-2232)GCC>CCC		family with sequence similarity 123B							87.0	64.0	72.0					X																	63410937		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63410937C>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.2230G>C	X.37:g.63410937C>G	ENSP00000329117:p.Ala744Pro						p.A744P	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	2503	-			744					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2230G>C	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636373	0.47049	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.51071	0.76;0.72;0.76	5.32	4.45	0.53987	.	0.212594	0.33772	N	0.004578	T	0.31167	0.0788	N	0.08118	0	0.32693	N	0.513968	P	0.52842	0.956	P	0.48030	0.564	T	0.42344	-0.9457	10	0.72032	D	0.01	-7.6721	7.501	0.27518	0.1691:0.7397:0.0:0.0912	.	744	Q5JTC6	F123B_HUMAN	P	744	ENSP00000364003:A744P;ENSP00000329117:A744P;ENSP00000384722:A744P	ENSP00000329117:A744P	A	-	1	0	FAM123B	63327662	0.080000	0.21391	1.000000	0.80357	0.990000	0.78478	0.021000	0.13489	2.618000	0.88619	0.600000	0.82982	GCC		0.502	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		26	58	0	0	0	0	26	58				
BRWD3	254065	broad.mit.edu	37	X	79988994	79988994	+	Splice_Site	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:79988994T>C	ENST00000373275.4	-	12	1304	c.1088A>G	c.(1087-1089)gAt>gGt	p.D363G		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	363					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					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						AACAACTTTATCCTAAGACAT	0.299																																						uc004edt.2		NA																	0				ovary(4)	4						c.(1087-1089)GAT>GGT		bromodomain and WD repeat domain containing 3							90.0	83.0	85.0					X																	79988994		2203	4297	6500	SO:0001630	splice_region_variant	254065							g.chrX:79988994T>C		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.1087-1A>G	X.37:g.79988994T>C						BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.D192G|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_Missense_Mutation_p.D33G|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_Missense_Mutation_p.D33G|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_Missense_Mutation_p.D33G|BRWD3_uc004eea.2_Missense_Mutation_p.D33G|BRWD3_uc004eeb.2_5'UTR	p.D363G	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			12	1351	-			363			WD 6.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1088A>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170540	0.78452	.	.	ENSG00000165288	ENST00000373275	T	0.58797	0.31	4.39	4.39	0.52855	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.054639	0.64402	D	0.000001	T	0.50377	0.1612	N	0.02960	-0.455	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.55302	-0.8162	9	.	.	.	-4.352	12.9804	0.58559	0.0:0.0:0.0:1.0	.	363	Q6RI45	BRWD3_HUMAN	G	363	ENSP00000362372:D363G	.	D	-	2	0	BRWD3	79875650	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.231000	0.78106	1.633000	0.50488	0.339000	0.21740	GAT		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	Missense_Mutation	6	108	0	0	0	0	6	108				
PCDH11X	27328	broad.mit.edu	37	X	91133770	91133770	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:91133770C>A	ENST00000373094.1	+	2	3376	c.2531C>A	c.(2530-2532)gCt>gAt	p.A844D	PCDH11X_ENST00000361724.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A844D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A844D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A844D|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A844D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A844D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	844					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)			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						CACCTTAAGGCTGCTCAGAAA	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(2530-2532)GCT>GAT		protocadherin 11 X-linked isoform c							84.0	75.0	78.0					X																	91133770		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133770C>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.2531C>A	X.37:g.91133770C>A	ENSP00000362186:p.Ala844Asp					PCDH11X_uc004efl.1_Missense_Mutation_p.A844D|PCDH11X_uc004efo.1_Missense_Mutation_p.A844D|PCDH11X_uc010nmv.1_Missense_Mutation_p.A844D|PCDH11X_uc004efm.1_Missense_Mutation_p.A844D|PCDH11X_uc004efn.1_Missense_Mutation_p.A844D|PCDH11X_uc004efh.1_Missense_Mutation_p.A844D|PCDH11X_uc004efj.1_Missense_Mutation_p.A844D	p.A844D	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3376	+			844			Cytoplasmic (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.2531C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255307	0.22965	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.15	3.37	0.38596	Protocadherin (1);	0.201282	0.42172	D	0.000759	T	0.45196	0.1330	M	0.62723	1.935	0.31662	N	0.64541	P;P;P;P;P;D;P;P	0.53151	0.948;0.948;0.948;0.948;0.948;0.958;0.907;0.907	P;P;P;P;P;P;P;P	0.58266	0.586;0.747;0.747;0.747;0.747;0.836;0.586;0.586	T	0.50996	-0.8761	10	0.37606	T	0.19	.	5.2244	0.15385	0.0:0.5874:0.0:0.4126	.	844;844;844;844;844;844;844;844	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	D	844	ENSP00000378746:A844D;ENSP00000362186:A844D;ENSP00000362189:A844D;ENSP00000355040:A844D;ENSP00000362180:A844D;ENSP00000423762:A844D;ENSP00000355105:A844D;ENSP00000384758:A844D;ENSP00000298274:A844D	ENSP00000298274:A844D	A	+	2	0	PCDH11X	91020426	1.000000	0.71417	0.993000	0.49108	0.288000	0.27193	4.347000	0.59373	0.947000	0.37659	-0.199000	0.12753	GCT		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		45	107	1	0	2.79e-13	3.22e-13	45	107				
UPF3B	65109	broad.mit.edu	37	X	118985732	118985732	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:118985732C>T	ENST00000276201.2	-	2	330	c.261G>A	c.(259-261)acG>acA	p.T87T	UPF3B_ENST00000345865.2_Silent_p.T87T	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	87	Necessary for interaction with UPF2.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTTTTACCTCGTATCATTAG	0.318																																						uc004erz.1		NA																	0				ovary(2)|kidney(1)	3						c.(259-261)ACG>ACA		UPF3 regulator of nonsense transcripts homolog B							30.0	29.0	30.0					X																	118985732		2200	4299	6499	SO:0001819	synonymous_variant	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118985732C>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.261G>A	X.37:g.118985732C>T						UPF3B_uc004esa.1_Silent_p.T87T	p.T87T	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			2	338	-			87			Necessary for interaction with UPF2.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Silent	SNP	ENST00000276201.2	37	c.261G>A	CCDS14588.1																																																																																				0.318	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			7	8	0	0	0	0	7	8				
TENM1	10178	broad.mit.edu	37	X	123514615	123514615	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:123514615G>A	ENST00000371130.3	-	31	8012	c.7949C>T	c.(7948-7950)gCc>gTc	p.A2650V	TENM1_ENST00000422452.2_Missense_Mutation_p.A2657V|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2650					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)										GCGCTGTCTGGCAATCTCCAA	0.542																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(7948-7950)GCC>GTC		odz, odd Oz/ten-m homolog 1 isoform 3							126.0	113.0	117.0					X																	123514615		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:123514615G>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.7949C>T	X.37:g.123514615G>A	ENSP00000360171:p.Ala2650Val					ODZ1_uc011muj.1_Missense_Mutation_p.A2656V|ODZ1_uc010nqy.2_Missense_Mutation_p.A2657V	p.A2650V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			31	8013	-			2650			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7949C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613084	0.66672	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.91686	-2.89;-2.85	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96194	0.8759	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.87578	0.985;0.994;0.998	D	0.96484	0.9358	10	0.87932	D	0	.	18.9144	0.92499	0.0:0.0:1.0:0.0	.	2656;2657;2650	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	2650;2657	ENSP00000360171:A2650V;ENSP00000403954:A2657V	ENSP00000360171:A2650V	A	-	2	0	ODZ1	123342296	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	9.869000	0.99810	2.414000	0.81942	0.538000	0.68166	GCC		0.542	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	195	0	0	0	0	4	195				
ARHGAP36	158763	broad.mit.edu	37	X	130218939	130218939	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:130218939A>C	ENST00000276211.5	+	7	1201	c.856A>C	c.(856-858)Aat>Cat	p.N286H	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.N150H|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.N274H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	286	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGACAATCAGAATGTGCATGA	0.498																																						uc004evz.2		NA																	0				ovary(3)	3						c.(856-858)AAT>CAT		hypothetical protein LOC158763 precursor							197.0	161.0	173.0					X																	130218939		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218939A>C		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.856A>C	X.37:g.130218939A>C	ENSP00000276211:p.Asn286His					ARHGAP36_uc004ewa.2_Missense_Mutation_p.N274H|ARHGAP36_uc004ewb.2_Missense_Mutation_p.N255H|ARHGAP36_uc004ewc.2_Missense_Mutation_p.N150H	p.N286H	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			7	1201	+			286			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.856A>C	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187445	0.78789	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.16	5.16	0.70880	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.53938	D	0.000044	T	0.47525	0.1450	N	0.25094	0.71	0.36999	D	0.895173	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.967;0.967;0.981	T	0.57242	-0.7845	10	0.66056	D	0.02	.	10.0987	0.42491	1.0:0.0:0.0:0.0	.	255;274;286	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	H	286;274;255;150	ENSP00000276211:N286H;ENSP00000359960:N274H;ENSP00000408515:N255H;ENSP00000359959:N150H	ENSP00000276211:N286H	N	+	1	0	ARHGAP36	130046620	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.043000	0.64208	1.909000	0.55274	0.356000	0.21956	AAT		0.498	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		63	268	0	0	0	0	63	268				
ZIC3	7547	broad.mit.edu	37	X	136649736	136649736	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:136649736G>A	ENST00000287538.5	+	1	1436	c.886G>A	c.(886-888)Gtc>Atc	p.V296I	ZIC3_ENST00000370606.3_Missense_Mutation_p.V296I	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	296					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)			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)					GAACAACCACGTCTGCTACTG	0.612																																						uc004fak.2		NA																	0				ovary(2)|breast(1)	3						c.(886-888)GTC>ATC		zinc finger protein of the cerebellum 3							55.0	61.0	59.0					X																	136649736		2203	4300	6503	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:136649736G>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.886G>A	X.37:g.136649736G>A	ENSP00000287538:p.Val296Ile						p.V296I	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1391	+	Acute lymphoblastic leukemia(192;0.000127)		296			C2H2-type 2; atypical.		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.886G>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	g	1.055	-0.674529	0.03378	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.35973	1.28;1.28	4.58	3.63	0.41609	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.172837	0.48767	D	0.000168	T	0.10637	0.0260	N	0.02960	-0.455	0.33526	D	0.592979	B	0.02656	0.0	B	0.01281	0.0	T	0.30592	-0.9973	10	0.02654	T	1	.	3.5929	0.07995	0.3607:0.0:0.6393:0.0	.	296	O60481	ZIC3_HUMAN	I	296	ENSP00000287538:V296I;ENSP00000359638:V296I	ENSP00000287538:V296I	V	+	1	0	ZIC3	136477402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.570000	0.53834	2.100000	0.63781	0.597000	0.82753	GTC		0.612	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			31	101	0	0	0	0	31	101				
KDF1	126695	broad.mit.edu	37	1	27278782	27278783	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:27278782_27278783delAT	ENST00000320567.5	-	2	177_178	c.89_90delAT	c.(88-90)tatfs	p.Y30fs		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		30	Pro-rich.				developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGTTTATCATATGTCTCCAG	0.629																																						uc001bni.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(88-90)TATfs		hypothetical protein LOC126695																																				SO:0001589	frameshift_variant	126695							g.chr1:27278782_27278783delAT																												ENST00000320567.5:c.89_90delAT	1.37:g.27278784_27278785delAT	ENSP00000319179:p.Tyr30fs						p.Y30fs	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	178_179	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	30			Pro-rich.		Q5QP32|Q8N0S7	Frame_Shift_Del	DEL	ENST00000320567.5	37	c.89_90delAT	CCDS293.1																																																																																				0.629	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			37	54	NA	NA	NA	NA	37	54	---	---	---	---
LZTS2	84445	broad.mit.edu	37	10	102763471	102763475	+	Frame_Shift_Del	DEL	AGTGG	AGTGG	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:102763471_102763475delAGTGG	ENST00000370220.1	+	2	3679_3683	c.616_620delAGTGG	c.(616-621)agtggcfs	p.SG206fs	LZTS2_ENST00000370223.3_Frame_Shift_Del_p.SG206fs					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCTGGCATTTAGTGGCTGGGCCAGT	0.644																																					Esophageal Squamous(8;38 437 13604 19902 37640)	uc001ksj.2		NA																	0				ovary(2)|large_intestine(1)|breast(1)	4						c.(616-621)AGTGGCfs		leucine zipper, putative tumor suppressor 2																																				SO:0001589	frameshift_variant	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763471_102763475delAGTGG	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.616_620delAGTGG	10.37:g.102763471_102763475delAGTGG	ENSP00000359240:p.Ser206fs					LZTS2_uc010qpw.1_Frame_Shift_Del_p.S206fs|LZTS2_uc001ksk.2_Frame_Shift_Del_p.S206fs|LZTS2_uc001ksl.2_Frame_Shift_Del_p.S206fs|LZTS2_uc001ksm.2_RNA	p.S206fs	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	685_689	+			206_207			Ser-rich.|Required for centrosomal localization (By similarity).			Frame_Shift_Del	DEL	ENST00000370220.1	37	c.616_620delAGTGG	CCDS7507.1																																																																																				0.644	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		44	220	NA	NA	NA	NA	44	220	---	---	---	---
KIAA0247	9766	broad.mit.edu	37	14	70175480	70175481	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:70175480_70175481insT	ENST00000342745.4	+	5	858_859	c.545_546insT	c.(544-549)tatggcfs	p.G183fs		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	183						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GAGGCTGTATATGGCAGTTCTG	0.589																																						uc001xlk.2		NA																	0				ovary(3)	3						c.(544-546)TATfs		hypothetical protein LOC9766 precursor																																				SO:0001589	frameshift_variant	9766					integral to membrane		g.chr14:70175480_70175481insT	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.546dupT	14.37:g.70175481_70175481dupT	ENSP00000344424:p.Gly183fs					KIAA0247_uc010aqz.2_Frame_Shift_Ins_p.Y157fs	p.Y182fs	NM_014734	NP_055549	Q92537	K0247_HUMAN		all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)	5	861_862	+			182			Cytoplasmic (Potential).			Frame_Shift_Ins	INS	ENST00000342745.4	37	c.545_546insT	CCDS9796.1																																																																																				0.589	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		63	78	NA	NA	NA	NA	63	78	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)cgafs	p.R342fs	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004908	TP53	M		c.(1024-1026)CGAfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574003delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024delC	17.37:g.7574003delG	ENSP00000269305:p.Arg342fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.R210fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.R342fs	p.R342fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1218	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.1024delC	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	36	NA	NA	NA	NA	22	36	---	---	---	---
ADAMTSL5	339366	broad.mit.edu	37	19	1507298	1507299	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr19:1507298_1507299delTG	ENST00000413997.2	-	9	823_824	c.824_825delCA	c.(823-825)acafs	p.T275fs	ADAMTSL5_ENST00000395467.2_Frame_Shift_Del_p.T34fs|ADAMTSL5_ENST00000330475.4_Frame_Shift_Del_p.T265fs|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000590562.1_5'UTR			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	275						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CCTGGGGCCCTGTGTCTCGGGT	0.673																																						uc002ltd.2		NA																	0					0						c.(793-795)ACAfs		ADAMTS-like 5 precursor																																				SO:0001589	frameshift_variant	339366					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:1507298_1507299delTG	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.824_825delCA	19.37:g.1507300_1507301delTG	ENSP00000399364:p.Thr275fs					ADAMTSL5_uc010dsl.2_Frame_Shift_Del_p.T34fs|ADAMTSL5_uc010xgq.1_Frame_Shift_Del_p.T275fs	p.T265fs	NM_213604	NP_998769	Q6ZMM2	ATL5_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)	9	1238_1239	-		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	265					B4DXK7|Q8IW95	Frame_Shift_Del	DEL	ENST00000413997.2	37	c.794_795delCA																																																																																					0.673	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		11	75	NA	NA	NA	NA	11	75	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43536021	43536025	+	Frame_Shift_Del	DEL	GTCAG	GTCAG	-	rs377731187		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr21:43536021_43536025delGTCAG	ENST00000408910.2	+	14	2401_2405	c.2401_2405delGTCAG	c.(2401-2406)gtcaggfs	p.VR801fs	UMODL1_ENST00000400424.2_Frame_Shift_Del_p.VR729fs|UMODL1_ENST00000400427.1_Frame_Shift_Del_p.VR857fs|UMODL1_ENST00000408989.2_Frame_Shift_Del_p.VR929fs	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	801	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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)			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						AATCAAAAATGTCAGGTACTCAGAA	0.434																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NA																	0				ovary(2)|skin(1)	3						c.(2401-2406)GTCAGGfs		uromodulin-like 1 isoform 1 precursor																																				SO:0001589	frameshift_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43536021_43536025delGTCAG		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.2401_2405delGTCAG	21.37:g.43536021_43536025delGTCAG	ENSP00000386147:p.Val801fs					UMODL1_uc002zad.1_Frame_Shift_Del_p.V729fs|UMODL1_uc002zae.1_Frame_Shift_Del_p.V857fs|UMODL1_uc002zag.1_Frame_Shift_Del_p.V929fs	p.V801fs	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			14	2401_2405	+			801_802			Extracellular (Potential).|SEA 2.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Frame_Shift_Del	DEL	ENST00000408910.2	37	c.2401_2405delGTCAG	CCDS42936.1																																																																																				0.434	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			14	88	NA	NA	NA	NA	14	88	---	---	---	---
MRPS30	10884	broad.mit.edu	37	5	44815046	44815046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:44815046delT	ENST00000507110.1	+	5	1100	c.1062delT	c.(1060-1062)cctfs	p.P354fs		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	354					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTACTCGACCTTTTGTCTCCC	0.373																																						uc003joh.2		NA																	0					0						c.(1060-1062)CCTfs		mitochondrial ribosomal protein S30							163.0	167.0	166.0					5																	44815046		2203	4300	6503	SO:0001589	frameshift_variant	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44815046delT	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.1062delT	5.37:g.44815046delT	ENSP00000424328:p.Pro354fs						p.P354fs	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			5	1100	+	Lung NSC(6;8.08e-07)		354					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Frame_Shift_Del	DEL	ENST00000507110.1	37	c.1062delT	CCDS3951.1																																																																																				0.373	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		7	396	NA	NA	NA	NA	7	396	---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33636910	33636910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:33636910delC	ENST00000374316.5	+	19	3226	c.2166delC	c.(2164-2166)gacfs	p.D722fs	ITPR3_ENST00000605930.1_Frame_Shift_Del_p.D722fs			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	722					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ACGCCCACGACGAGAATGTGC	0.607																																						uc011drk.1		NA																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(2164-2166)GACfs		inositol 1,4,5-triphosphate receptor, type 3							81.0	77.0	79.0					6																	33636910		2203	4300	6503	SO:0001589	frameshift_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33636910delC	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2166delC	6.37:g.33636910delC	ENSP00000363435:p.Asp722fs						p.D722fs	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			18	2385	+			722			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Frame_Shift_Del	DEL	ENST00000374316.5	37	c.2166delC	CCDS4783.1																																																																																				0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		7	79	NA	NA	NA	NA	7	79	---	---	---	---
PMPCB	9512	broad.mit.edu	37	7	102952157	102952158	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:102952157_102952158insT	ENST00000249269.4	+	10	1260_1261	c.1222_1223insT	c.(1222-1224)atgfs	p.M408fs	PMPCB_ENST00000420236.2_Frame_Shift_Ins_p.M303fs|PMPCB_ENST00000428154.1_Frame_Shift_Ins_p.M408fs	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	408					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAAAACAAACATGTTGTTGCAG	0.356																																						uc003vbl.2		NA																	0				ovary(4)	4						c.(1222-1224)ATGfs		mitochondrial processing peptidase beta subunit																																				SO:0001589	frameshift_variant	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102952157_102952158insT	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.1223dupT	7.37:g.102952158_102952158dupT	ENSP00000249269:p.Met408fs					PMPCB_uc003vbk.1_Frame_Shift_Ins_p.M408fs|PMPCB_uc003vbm.2_Frame_Shift_Ins_p.M317fs|PMPCB_uc010liv.2_Frame_Shift_Ins_p.M314fs|PMPCB_uc010liw.2_Intron|PMPCB_uc011kll.1_Frame_Shift_Ins_p.M303fs|PMPCB_uc011klm.1_Frame_Shift_Ins_p.M283fs	p.M408fs	NM_004279	NP_004270	O75439	MPPB_HUMAN			10	1256_1257	+			408					O60416|Q96FV4	Frame_Shift_Ins	INS	ENST00000249269.4	37	c.1222_1223insT	CCDS5730.1																																																																																				0.356	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		7	33	NA	NA	NA	NA	7	33	---	---	---	---
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)aatfs	p.N24fs	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453																																						uc004fbw.2		NA																	0				ovary(2)	2						c.(70-72)AATfs		SPANX-N3 protein							221.0	189.0	200.0					X																	142605149		2203	4300	6503	SO:0001589	frameshift_variant	139067							g.chrX:142605149delT		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.71delA	X.37:g.142605149delT	ENSP00000359534:p.Asn24fs						p.N24fs	NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN			1	159	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNK4	Frame_Shift_Del	DEL	ENST00000370503.2	37	c.71delA	CCDS35418.1																																																																																				0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		7	259	NA	NA	NA	NA	7	259	---	---	---	---
