#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
DVL1	1855	broad.mit.edu	37	1	1273500	1273500	+	Missense_Mutation	SNP	G	G	A	rs551168455		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:1273500G>A	ENST00000378888.5	-	14	1855	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	DVL1_ENST00000378891.5_Missense_Mutation_p.P499L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	524					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)		GTGGGGCAGCGGGGCCAGCGT	0.721													g|||	1	0.000199681	0.0008	0.0	5008	,	,		7455	0.0		0.0	False		,,,				2504	0.0					uc001aer.3		NA																	0					0						c.(1495-1497)CCG>CTG		dishevelled 1							11.0	13.0	12.0					1																	1273500		2184	4282	6466	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1273500G>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1571C>T	1.37:g.1273500G>A	ENSP00000368166:p.Pro524Leu					DVL1_uc002quu.2_Missense_Mutation_p.P241L|DVL1_uc009vka.2_Missense_Mutation_p.P182L|DVL1_uc001aeu.1_Missense_Mutation_p.P258L	p.P499L	NM_004421	NP_004412	O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)	14	1543	-	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)	524					Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1496C>T		.	.	.	.	.	.	.	.	.	.	G	15.67	2.901172	0.52227	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.11604	2.76;2.76	4.29	3.35	0.38373	Winged helix-turn-helix transcription repressor DNA-binding (2);Dishevelled C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	M	0.75777	2.31	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.996;0.923	D;D;D;P	0.91635	0.998;0.999;0.929;0.479	T	0.03493	-1.1031	10	0.56958	D	0.05	.	11.8383	0.52340	0.0868:0.0:0.9132:0.0	.	182;524;499;499	G3XA93;O14640;P54792;O14640-2	.;DVL1_HUMAN;DVL1L_HUMAN;.	L	499;524;273;182	ENSP00000368169:P499L;ENSP00000368166:P524L	ENSP00000263743:P182L	P	-	2	0	DVL1	1263363	1.000000	0.71417	0.963000	0.40424	0.963000	0.63663	7.434000	0.80377	2.120000	0.65058	0.456000	0.33151	CCG		0.721	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		7	16	0	0	0	0	7	16				
PTCHD2	57540	broad.mit.edu	37	1	11579445	11579445	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:11579445G>T	ENST00000294484.6	+	8	2061	c.1923G>T	c.(1921-1923)ctG>ctT	p.L641L	PTCHD2_ENST00000389575.3_Silent_p.L641L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	641					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGACCTCCCTGCACTTCCCCG	0.652																																						uc001ash.3		NA																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(1921-1923)CTG>CTT		patched domain containing 2							118.0	129.0	126.0					1																	11579445		1989	4166	6155	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11579445G>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1923G>T	1.37:g.11579445G>T						PTCHD2_uc001asi.1_Silent_p.L641L	p.L641L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	8	2061	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	641			Cytoplasmic (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.1923G>T	CCDS41247.1																																																																																				0.652	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		55	159	1	0	7.07e-37	2.01e-36	55	159				
EPHA2	1969	broad.mit.edu	37	1	16456829	16456829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:16456829C>T	ENST00000358432.5	-	15	2715	c.2561G>A	c.(2560-2562)tGg>tAg	p.W854*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	854	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTCCTGCTGCCAGCACTGCAT	0.612																																						uc001aya.1		NA																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(2560-2562)TGG>TAG		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						56.0	55.0	55.0					1																	16456829		2203	4300	6503	SO:0001587	stop_gained	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456829C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2561G>A	1.37:g.16456829C>T	ENSP00000351209:p.Trp854*						p.W854*	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	15	2698	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	854			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	c.2561G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	42	9.357532	0.99147	.	.	ENSG00000142627	ENST00000358432	.	.	.	5.63	5.63	0.86233	.	0.000000	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2443	0.89979	0.0:1.0:0.0:0.0	.	.	.	.	X	854	.	ENSP00000351209:W854X	W	-	2	0	EPHA2	16329416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.779000	0.85648	2.670000	0.90874	0.655000	0.94253	TGG		0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		16	51	0	0	0	0	16	51				
KIF17	57576	broad.mit.edu	37	1	21031314	21031314	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:21031314G>A	ENST00000247986.2	-	5	1059	c.749C>T	c.(748-750)aCc>aTc	p.T250I	KIF17_ENST00000400463.3_Missense_Mutation_p.T250I|KIF17_ENST00000375044.1_Missense_Mutation_p.T150I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	250	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGTGGCCCCGGTCTTGGACTG	0.667																																						uc001bdr.3		NA																	0				ovary(3)|skin(1)	4						c.(748-750)ACC>ATC		kinesin family member 17 isoform a							39.0	43.0	42.0					1																	21031314		2200	4299	6499	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031314G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.749C>T	1.37:g.21031314G>A	ENSP00000247986:p.Thr250Ile					KIF17_uc001bds.3_Missense_Mutation_p.T250I	p.T250I	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	867	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	250			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.749C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443467	0.83993	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.77489	-1.1;-1.1;-1.1	5.48	4.56	0.56223	Kinesin, motor domain (5);	0.247086	0.20710	U	0.087110	D	0.91713	0.7380	H	0.97051	3.93	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93833	0.7129	10	0.87932	D	0	.	13.5935	0.61975	0.075:0.0:0.925:0.0	.	250;250	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	I	150;250;250	ENSP00000364184:T150I;ENSP00000383311:T250I;ENSP00000247986:T250I	ENSP00000247986:T250I	T	-	2	0	KIF17	20903901	1.000000	0.71417	0.911000	0.35937	0.881000	0.50899	7.970000	0.88000	1.448000	0.47680	0.561000	0.74099	ACC		0.667	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		11	78	0	0	0	0	11	78				
ZBTB40	9923	broad.mit.edu	37	1	22816681	22816681	+	Silent	SNP	G	G	A	rs138737436		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:22816681G>A	ENST00000375647.4	+	2	447	c.240G>A	c.(238-240)acG>acA	p.T80T	ZBTB40_ENST00000374651.4_Silent_p.T80T|ZBTB40_ENST00000404138.1_Silent_p.T80T	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	80	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGATGTACACGGGCAAACTAC	0.463																																						uc001bft.2		NA																	0				ovary(1)	1						c.(238-240)ACG>ACA		zinc finger and BTB domain containing 40							88.0	83.0	85.0					1																	22816681		2203	4300	6503	SO:0001819	synonymous_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22816681G>A	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.240G>A	1.37:g.22816681G>A						ZBTB40_uc001bfu.2_Silent_p.T80T|ZBTB40_uc009vqi.1_Silent_p.T80T	p.T80T	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	3	751	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	80			BTB.		O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	c.240G>A	CCDS224.1																																																																																				0.463	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		9	60	0	0	0	0	9	60				
KDF1	126695	broad.mit.edu	37	1	27277199	27277199	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:27277199C>A	ENST00000320567.5	-	3	1176	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		363					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)		CCTCAGCTTCCGGGCGATGGC	0.597																																						uc001bni.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1087-1089)CGG>CTG		hypothetical protein LOC126695							137.0	125.0	129.0					1																	27277199		2203	4300	6503	SO:0001583	missense	126695							g.chr1:27277199C>A																												ENST00000320567.5:c.1088G>T	1.37:g.27277199C>A	ENSP00000319179:p.Arg363Leu						p.R363L	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)	3	1177	-		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)	363					Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	c.1088G>T	CCDS293.1	.	.	.	.	.	.	.	.	.	.	C	32	5.123378	0.94429	.	.	ENSG00000175707	ENST00000320567	T	0.35789	1.29	5.53	5.53	0.82687	.	0.201295	0.39759	N	0.001276	T	0.51381	0.1671	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.52837	-0.8522	10	0.87932	D	0	.	17.6387	0.88129	0.0:1.0:0.0:0.0	.	363	Q8NAX2	CA172_HUMAN	L	363	ENSP00000319179:R363L	ENSP00000319179:R363L	R	-	2	0	C1orf172	27149786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.340000	0.65958	2.607000	0.88179	0.655000	0.94253	CGG		0.597	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			33	120	1	0	5.72e-15	1.58e-14	33	120				
NT5C1A	84618	broad.mit.edu	37	1	40131889	40131889	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:40131889A>G	ENST00000235628.1	-	2	154	c.155T>C	c.(154-156)gTc>gCc	p.V52A		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	52					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCGATGGTGACTGCATTCTG	0.592																																						uc001cdq.1		NA																	0				ovary(1)	1						c.(154-156)GTC>GCC		5'-nucleotidase, cytosolic IA							78.0	67.0	70.0					1																	40131889		2203	4300	6503	SO:0001583	missense	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131889A>G	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.155T>C	1.37:g.40131889A>G	ENSP00000235628:p.Val52Ala						p.V52A	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	155	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	52					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.155T>C	CCDS440.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.741062	0.69304	.	.	ENSG00000116981	ENST00000235628	.	.	.	4.84	4.84	0.62591	.	0.171074	0.49916	D	0.000139	T	0.56790	0.2009	L	0.46157	1.445	0.49051	D	0.999744	B	0.30179	0.271	B	0.29524	0.103	T	0.61486	-0.7053	9	0.87932	D	0	-2.1134	14.7497	0.69516	1.0:0.0:0.0:0.0	.	52	Q9BXI3	5NT1A_HUMAN	A	52	.	ENSP00000235628:V52A	V	-	2	0	NT5C1A	39904476	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	9.339000	0.96797	1.955000	0.56771	0.528000	0.53228	GTC		0.592	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		7	36	0	0	0	0	7	36				
EBNA1BP2	10969	broad.mit.edu	37	1	43630439	43630439	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:43630439C>A	ENST00000236051.2	-	8	886	c.745G>T	c.(745-747)Ggt>Tgt	p.G249C	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.G304C	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	249					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCACCAAAACCAAACTTCTGG	0.483																																						uc001cin.2		NA																	0					0						c.(745-747)GGT>TGT		EBNA1 binding protein 2 isoform 2							84.0	81.0	82.0					1																	43630439		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43630439C>A	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.745G>T	1.37:g.43630439C>A	ENSP00000236051:p.Gly249Cys					EBNA1BP2_uc001cio.2_Missense_Mutation_p.G304C|EBNA1BP2_uc001cim.2_Missense_Mutation_p.G144C|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.G304C	p.G249C	NM_006824	NP_006815	Q99848	EBP2_HUMAN			8	942	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	249					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.745G>T	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888162	0.91814	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.61627	0.09;0.09	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.83626	0.5295	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88043	0.2782	10	0.87932	D	0	-13.9855	19.3728	0.94495	0.0:1.0:0.0:0.0	.	249;249	Q6IB29;Q99848	.;EBP2_HUMAN	C	304;249	ENSP00000407323:G304C;ENSP00000236051:G249C	ENSP00000236051:G249C	G	-	1	0	EBNA1BP2	43403026	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.388000	0.79795	2.587000	0.87381	0.289000	0.19496	GGT		0.483	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			19	60	1	0	1.16e-05	3.02e-05	19	60				
ATP6V0B	533	broad.mit.edu	37	1	44441472	44441472	+	Splice_Site	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:44441472G>T	ENST00000472174.2	+	2	461	c.68G>T	c.(67-69)gGa>gTa	p.G23V	ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000532642.1_Splice_Site_p.G23V|ATP6V0B_ENST00000498664.1_5'Flank	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	23					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)	p.G23V(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACTGCTGCAGGAGTCTGCTAC	0.552																																						uc001cld.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(67-69)GGA>GTA		ATPase, H+ transporting, lysosomal 21kDa, V0							178.0	178.0	178.0					1																	44441472		2203	4300	6503	SO:0001630	splice_region_variant	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44441472G>T	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.68-1G>T	1.37:g.44441472G>T						ATP6V0B_uc001clc.2_Missense_Mutation_p.G23V|ATP6V0B_uc001cle.2_Intron|ATP6V0B_uc001clf.2_5'UTR	p.G23V	NM_004047	NP_004038	Q99437	VATO_HUMAN			2	179	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	23			Helical; (Potential).		D3DPY5|Q6IB32	Missense_Mutation	SNP	ENST00000472174.2	37	c.68G>T	CCDS505.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338998	0.95783	.	.	ENSG00000117410	ENST00000472174;ENST00000532642	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.58810	1.83	0.80722	D	1	B;B	0.24963	0.115;0.063	B;B	0.23574	0.047;0.023	T	0.56282	-0.8005	9	0.05959	T	0.93	.	18.0585	0.89370	0.0:0.0:1.0:0.0	.	23;23	Q99437;E9PNL3	VATO_HUMAN;.	V	23	.	ENSP00000431605:G23V	G	+	2	0	ATP6V0B	44214059	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.972000	0.93424	2.266000	0.75297	0.479000	0.44913	GGA		0.552	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047	Missense_Mutation	49	171	1	0	4.33e-36	1.23e-35	49	171				
C1orf168	199920	broad.mit.edu	37	1	57209833	57209833	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:57209833C>T	ENST00000343433.6	-	10	1574	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	498										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ACACCTCTTTCCTGGAGTACT	0.408																																						uc001cym.3		NA																	0				ovary(3)|skin(2)	5						c.(1492-1494)AGG>AGA		hypothetical protein LOC199920							173.0	167.0	169.0					1																	57209833		2203	4300	6503	SO:0001819	synonymous_variant	199920							g.chr1:57209833C>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1494G>A	1.37:g.57209833C>T						C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA	p.R498R	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			10	1900	-			498					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.1494G>A	CCDS30729.1																																																																																				0.408	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		27	91	0	0	0	0	27	91				
DOCK7	85440	broad.mit.edu	37	1	62960063	62960063	+	Silent	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:62960063T>C	ENST00000340370.5	-	39	5024	c.5007A>G	c.(5005-5007)gaA>gaG	p.E1669E	DOCK7_ENST00000251157.5_Silent_p.E1691E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1700					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GATTGCTTCGTTCTGAGTGCT	0.478																																						uc001daq.2		NA																	0				ovary(2)	2						c.(5071-5073)GAA>GAG		dedicator of cytokinesis 7							121.0	90.0	100.0					1																	62960063		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62960063T>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5007A>G	1.37:g.62960063T>C						DOCK7_uc001dan.2_Silent_p.E1552E|DOCK7_uc001dao.2_Silent_p.E1552E|DOCK7_uc001dap.2_Silent_p.E1669E|DOCK7_uc001dam.2_Silent_p.E871E|DOCK7_uc010oov.1_Silent_p.E430E	p.E1691E	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			40	5107	-			1700			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.5073A>G	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	T	4.173	0.030630	0.08101	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.9	-5.38	0.02673	.	.	.	.	.	T	0.66616	0.2807	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68522	-0.5386	4	.	.	.	.	18.101	0.89505	0.0:0.7425:0.0:0.2575	.	.	.	.	A	863	.	.	T	-	1	0	DOCK7	62732651	0.977000	0.34250	0.472000	0.27241	0.399000	0.30720	0.213000	0.17521	-0.952000	0.03649	-0.353000	0.07706	ACG		0.478	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		17	56	0	0	0	0	17	56				
CTH	1491	broad.mit.edu	37	1	70900825	70900825	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:70900825G>C	ENST00000370938.3	+	10	1161	c.1017G>C	c.(1015-1017)gaG>gaC	p.E339D	CTH_ENST00000411986.2_Missense_Mutation_p.E307D|CTH_ENST00000346806.2_Missense_Mutation_p.E295D	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTCTGGCCGAGAGCTTGGGAG	0.323																																						uc001dfd.2		NA																	0				lung(1)	1						c.(1015-1017)GAG>GAC		cystathionase isoform 1	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						81.0	78.0	79.0					1																	70900825		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70900825G>C	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.1017G>C	1.37:g.70900825G>C	ENSP00000359976:p.Glu339Asp					CTH_uc001dfe.2_Missense_Mutation_p.E295D|CTH_uc010oqq.1_Missense_Mutation_p.E307D	p.E339D	NM_001902	NP_001893	P32929	CGL_HUMAN			10	1161	+			339				Substrate.	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.1017G>C	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300921	0.60195	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.82984	-1.67;-1.67;-1.67	5.24	3.36	0.38483	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.098474	0.64402	D	0.000002	D	0.88544	0.6465	M	0.90145	3.09	0.58432	D	0.999999	P;P;D	0.76494	0.91;0.653;0.999	P;P;D	0.73380	0.737;0.618;0.98	D	0.88581	0.3136	10	0.66056	D	0.02	-17.0076	8.1397	0.31076	0.1452:0.1317:0.7231:0.0	.	307;295;339	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	D	307;339;295	ENSP00000413407:E307D;ENSP00000359976:E339D;ENSP00000311554:E295D	ENSP00000311554:E295D	E	+	3	2	CTH	70673413	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.533000	0.45667	0.737000	0.32582	-0.171000	0.13296	GAG		0.323	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		7	20	0	0	0	0	7	20				
GBP5	115362	broad.mit.edu	37	1	89729518	89729518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:89729518C>A	ENST00000370459.3	-	8	1390	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.K421N|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	421						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AAATTCCCTGCTTCACTGCTT	0.423																																						uc001dnc.2		NA																	0				ovary(1)	1						c.(1261-1263)AAG>AAT		guanylate-binding protein 5							185.0	188.0	187.0					1																	89729518		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89729518C>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1263G>T	1.37:g.89729518C>A	ENSP00000359488:p.Lys421Asn					GBP5_uc001dnd.2_Missense_Mutation_p.K421N|GBP5_uc001dne.1_Missense_Mutation_p.K421N	p.K421N	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	9	1800	-			421					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1263G>T	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523740	0.27299	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.02301	4.35;4.35;4.35	4.94	0.77	0.18497	Guanylate-binding protein, C-terminal (3);	0.813629	0.11546	N	0.553253	T	0.01189	0.0039	M	0.74467	2.265	0.09310	N	1	B	0.22983	0.078	B	0.27887	0.084	T	0.42531	-0.9446	10	0.52906	T	0.07	-2.6615	3.9208	0.09242	0.1756:0.4725:0.0:0.3519	.	421	Q96PP8	GBP5_HUMAN	N	421	ENSP00000340396:K421N;ENSP00000359488:K421N;ENSP00000403010:K421N	ENSP00000340396:K421N	K	-	3	2	GBP5	89502106	0.000000	0.05858	0.001000	0.08648	0.598000	0.36846	-0.749000	0.04813	0.065000	0.16485	0.551000	0.68910	AAG		0.423	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		54	150	1	0	1.86e-20	5.21e-20	54	150				
HFM1	164045	broad.mit.edu	37	1	91845680	91845680	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:91845680C>A	ENST00000370425.3	-	8	1085	c.987G>T	c.(985-987)ttG>ttT	p.L329F	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.L8F	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	329	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTTAATATTCAACCATGGCA	0.284																																						uc001doa.3		NA																	0					0						c.(985-987)TTG>TTT		HFM1 protein							58.0	60.0	59.0					1																	91845680		2203	4293	6496	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91845680C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.987G>T	1.37:g.91845680C>A	ENSP00000359454:p.Leu329Phe					HFM1_uc010osu.1_Missense_Mutation_p.L8F|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.L329F	p.L329F	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	8	1087	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	329			Helicase ATP-binding.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.987G>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	9.872	1.199269	0.22121	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000541820	T;T	0.70986	-0.53;-0.12	5.6	-5.6	0.02497	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	2.616220	0.03305	U	0.189708	T	0.50820	0.1638	N	0.16368	0.405	0.52099	D	0.999941	P;B	0.43477	0.808;0.277	P;B	0.48114	0.567;0.199	T	0.54801	-0.8239	10	0.56958	D	0.05	.	17.545	0.87858	0.0:0.2155:0.0:0.7845	.	329;329	B7ZM16;A2PYH4	.;HFM1_HUMAN	F	329;8;362	ENSP00000359454:L329F;ENSP00000359453:L8F	ENSP00000359453:L8F	L	-	3	2	HFM1	91618268	0.000000	0.05858	0.019000	0.16419	0.748000	0.42578	-0.750000	0.04808	-1.733000	0.01357	-0.259000	0.10710	TTG		0.284	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		9	55	1	0	0.000274275	0.00069307	9	55				
CELSR2	1952	broad.mit.edu	37	1	109812163	109812163	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:109812163G>A	ENST00000271332.3	+	21	6991	c.6930G>A	c.(6928-6930)gaG>gaA	p.E2310E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2310					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCTGCTGGAGACAGAGGAGC	0.607																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(6928-6930)GAG>GAA		cadherin EGF LAG seven-pass G-type receptor 2							79.0	77.0	78.0					1																	109812163		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109812163G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6930G>A	1.37:g.109812163G>A							p.E2310E	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	21	6991	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2310			Extracellular (Potential).		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.6930G>A	CCDS796.1																																																																																				0.607	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		16	73	0	0	0	0	16	73				
KIAA0907	22889	broad.mit.edu	37	1	155903485	155903485	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:155903485T>C	ENST00000368321.3	-	2	217	c.194A>G	c.(193-195)aAg>aGg	p.K65R	KIAA0907_ENST00000368320.3_Missense_Mutation_p.K65R|KIAA0907_ENST00000368319.3_Missense_Mutation_p.K65R|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	65							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGCATTAATCTTGGCAGCCAC	0.542																																						uc001fmi.1		NA																	0					0						c.(193-195)AAG>AGG		hypothetical protein LOC22889							36.0	36.0	36.0					1																	155903485		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155903485T>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.194A>G	1.37:g.155903485T>C	ENSP00000357304:p.Lys65Arg					KIAA0907_uc001fmj.1_Missense_Mutation_p.K65R|KIAA0907_uc009wrk.1_Missense_Mutation_p.K65R|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.K65R|KIAA0907_uc001fmm.2_Missense_Mutation_p.K65R|KIAA0907_uc001fmo.2_Missense_Mutation_p.K65R	p.K65R	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		2	218	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		65					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.194A>G	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378772	0.61735	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	L	0.42245	1.32	0.58432	D	0.999999	D;D;D;D;D;D	0.58268	0.982;0.982;0.982;0.982;0.982;0.982	P;P;P;P;P;P	0.54965	0.765;0.765;0.765;0.765;0.765;0.765	T	0.50668	-0.8801	9	0.33940	T	0.23	-13.6283	15.0416	0.71796	0.0:0.0:0.0:1.0	.	65;65;65;65;65;65	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	R	65	.	ENSP00000357302:K65R	K	-	2	0	KIAA0907	154170109	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.279000	0.78599	2.230000	0.72887	0.528000	0.53228	AAG		0.542	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		5	21	0	0	0	0	5	21				
PRCC	5546	broad.mit.edu	37	1	156756531	156756531	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:156756531G>A	ENST00000271526.4	+	3	920	c.648G>A	c.(646-648)aaG>aaA	p.K216K	PRCC_ENST00000353233.3_Silent_p.K216K|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	216					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGATACTAAGCCCTCCAGAC	0.562			T	TFE3	papillary renal																																	uc001fqa.2		NA		Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal 	PRCC/TFE3(25)	0				kidney(25)|central_nervous_system(2)	27						c.(646-648)AAG>AAA		papillary renal cell carcinoma							94.0	93.0	93.0					1																	156756531		2203	4300	6503	SO:0001819	synonymous_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156756531G>A	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.648G>A	1.37:g.156756531G>A						PRCC_uc001fqb.2_Silent_p.K216K	p.K216K	NM_005973	NP_005964	Q92733	PRCC_HUMAN			3	938	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		216					A8K1F7|O00665|O00724|Q5SZ06	Silent	SNP	ENST00000271526.4	37	c.648G>A	CCDS1157.1																																																																																				0.562	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		19	74	0	0	0	0	19	74				
LY9	4063	broad.mit.edu	37	1	160769734	160769734	+	Nonsense_Mutation	SNP	C	C	T	rs12049314	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:160769734C>T	ENST00000263285.6	+	2	346	c.316C>T	c.(316-318)Cga>Tga	p.R106*	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368037.5_Nonsense_Mutation_p.R106*|LY9_ENST00000368039.2_Nonsense_Mutation_p.R106*|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Nonsense_Mutation_p.R106*|LY9_ENST00000341032.4_Nonsense_Mutation_p.R106*|LY9_ENST00000368041.2_Nonsense_Mutation_p.R66*			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	106	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTACCTGGGCCGACTAGACAT	0.448																																						uc001fwu.2		NA																	0				ovary(1)	1						c.(316-318)CGA>TGA		lymphocyte antigen 9 isoform a							109.0	110.0	110.0					1																	160769734		2203	4300	6503	SO:0001587	stop_gained	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160769734C>T	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.316C>T	1.37:g.160769734C>T	ENSP00000263285:p.Arg106*					LY9_uc001fwt.2_Nonsense_Mutation_p.R106*|LY9_uc010pjs.1_Nonsense_Mutation_p.R106*|LY9_uc001fwv.2_Nonsense_Mutation_p.R106*|LY9_uc001fww.2_Nonsense_Mutation_p.R106*|LY9_uc001fwx.2_Nonsense_Mutation_p.R106*|LY9_uc001fwy.1_Nonsense_Mutation_p.R8*	p.R106*	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	366	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		106			Extracellular (Potential).|Ig-like V-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Nonsense_Mutation	SNP	ENST00000263285.6	37	c.316C>T	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987224	0.53934	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037;ENST00000368036	.	.	.	4.04	-0.245	0.13027	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2479	2.9801	0.05951	0.3761:0.4057:0.0:0.2182	rs12049314;rs12049314	.	.	.	X	106;106;106;106;106;66;66;8	.	ENSP00000263285:R106X	R	+	1	2	LY9	159036358	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.194000	0.09559	0.075000	0.16796	0.563000	0.77884	CGA		0.448	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		17	87	0	0	0	0	17	87				
LAMC2	3918	broad.mit.edu	37	1	183177126	183177126	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:183177126C>A	ENST00000264144.4	+	2	255	c.190C>A	c.(190-192)Cac>Aac	p.H64N	LAMC2_ENST00000493293.1_Missense_Mutation_p.H64N	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	64	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGATGGCATTCACTGCGAGAA	0.483																																						uc001gqa.2		NA																	0				skin(2)|ovary(1)	3						c.(190-192)CAC>AAC		laminin, gamma 2 isoform a precursor							284.0	272.0	276.0					1																	183177126		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183177126C>A	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.190C>A	1.37:g.183177126C>A	ENSP00000264144:p.His64Asn					LAMC2_uc001gpz.3_Missense_Mutation_p.H64N|LAMC2_uc010poa.1_5'UTR	p.H64N	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			2	504	+			64			Laminin EGF-like 1.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.190C>A	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	8.913	0.959076	0.18507	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.61392	0.11;0.11	4.81	4.81	0.61882	EGF-like, laminin (4);Growth factor, receptor (1);	0.074319	0.56097	D	0.000030	T	0.56307	0.1976	L	0.31845	0.965	0.54753	D	0.999987	B;P	0.44044	0.22;0.825	B;P	0.50049	0.23;0.629	T	0.49303	-0.8954	10	0.14656	T	0.56	.	17.5161	0.87773	0.0:1.0:0.0:0.0	.	64;64	Q13753;Q13753-2	LAMC2_HUMAN;.	N	64	ENSP00000432063:H64N;ENSP00000264144:H64N	ENSP00000264144:H64N	H	+	1	0	LAMC2	181443749	0.133000	0.22466	0.675000	0.29917	0.356000	0.29392	1.826000	0.39092	2.219000	0.72066	0.591000	0.81541	CAC		0.483	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		100	254	1	0	4.71e-39	1.34e-38	100	254				
KCNT2	343450	broad.mit.edu	37	1	196303052	196303052	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:196303052A>G	ENST00000294725.9	-	17	2837	c.1922T>C	c.(1921-1923)aTt>aCt	p.I641T	KCNT2_ENST00000367433.5_Missense_Mutation_p.I641T|KCNT2_ENST00000367431.4_Missense_Mutation_p.I591T|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.I252T|KCNT2_ENST00000609185.1_Missense_Mutation_p.I591T			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	641					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATGTTTGAATCGATGATGT	0.403																																						uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(1921-1923)ATT>ACT		potassium channel, subfamily T, member 2							164.0	150.0	155.0					1																	196303052		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196303052A>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1922T>C	1.37:g.196303052A>G	ENSP00000294725:p.Ile641Thr					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.I591T|KCNT2_uc001gtf.1_Missense_Mutation_p.I641T|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.I641T|KCNT2_uc001gth.1_Missense_Mutation_p.I162T	p.I641T	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			17	1982	-			641			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1922T>C	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.406995	0.42715	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	4.67	4.67	0.58626	.	0.106811	0.41938	D	0.000798	T	0.71550	0.3353	L	0.47716	1.5	0.42575	D	0.993199	B;B;B;B;B	0.18968	0.004;0.032;0.003;0.032;0.004	B;B;B;B;B	0.25614	0.01;0.062;0.006;0.062;0.01	T	0.66889	-0.5809	10	0.21540	T	0.41	-7.9672	14.2729	0.66162	1.0:0.0:0.0:0.0	.	641;623;641;591;641	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	T	641;591;462;252;641	ENSP00000356403:I641T;ENSP00000356401:I591T;ENSP00000405474:I252T;ENSP00000294725:I641T	ENSP00000294725:I641T	I	-	2	0	KCNT2	194569675	1.000000	0.71417	0.898000	0.35279	0.995000	0.86356	6.681000	0.74523	1.958000	0.56883	0.533000	0.62120	ATT		0.403	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		14	42	0	0	0	0	14	42				
CRB1	23418	broad.mit.edu	37	1	197390489	197390489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:197390489G>A	ENST00000367400.3	+	6	1666	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.A511T|CRB1_ENST00000535699.1_Missense_Mutation_p.A442T|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.A210T|CRB1_ENST00000367399.2_Missense_Mutation_p.A399T|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	511	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGTAACATAGCCCTCAGGTT	0.488																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(1531-1533)GCC>ACC		crumbs homolog 1 precursor							112.0	106.0	108.0					1																	197390489		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390489G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1531G>A	1.37:g.197390489G>A	ENSP00000356370:p.Ala511Thr					CRB1_uc010poz.1_Missense_Mutation_p.A442T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A399T|CRB1_uc010ppb.1_Missense_Mutation_p.A511T|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.A160T	p.A511T	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1666	+			511			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1531G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	6.057	0.378830	0.11466	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.82	1.55	0.23275	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.58637	0.2136	L	0.35793	1.09	0.80722	D	1	B;P;P;B;B	0.39424	0.1;0.673;0.459;0.018;0.047	B;B;B;B;B	0.37144	0.034;0.242;0.242;0.007;0.012	T	0.50955	-0.8766	9	0.09843	T	0.71	.	3.1814	0.06586	0.329:0.0:0.2795:0.3915	.	511;442;399;160;511	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	442;511;511;399;210;160	ENSP00000438786:A442T;ENSP00000438091:A511T;ENSP00000356370:A511T;ENSP00000356369:A399T;ENSP00000439579:A210T	ENSP00000356369:A399T	A	+	1	0	CRB1	195657112	0.949000	0.32298	0.004000	0.12327	0.009000	0.06853	2.484000	0.45242	0.251000	0.21505	0.650000	0.86243	GCC		0.488	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		30	61	0	0	0	0	30	61				
PTPRC	5788	broad.mit.edu	37	1	198713291	198713291	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:198713291G>A	ENST00000367376.2	+	26	2971	c.2800G>A	c.(2800-2802)Gat>Aat	p.D934N	PTPRC_ENST00000594404.1_Missense_Mutation_p.D773N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D775N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D886N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D936N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	934					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAGAAAAGGGATCCACCCAG	0.373																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2800-2802)GAT>AAT		protein tyrosine phosphatase, receptor type, C							83.0	78.0	80.0					1																	198713291		2202	4298	6500	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198713291G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2800G>A	1.37:g.198713291G>A	ENSP00000356346:p.Asp934Asn					PTPRC_uc001gus.1_Missense_Mutation_p.D886N|PTPRC_uc001gut.1_Missense_Mutation_p.D773N	p.D934N	NM_002838	NP_002829	P08575	PTPRC_HUMAN			26	2980	+			934			Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2800G>A		.	.	.	.	.	.	.	.	.	.	G	16.97	3.268136	0.59540	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.13657	2.57	5.78	5.78	0.91487	.	0.000000	0.51477	D	0.000091	T	0.22666	0.0547	L	0.53249	1.67	0.23841	N	0.996691	P;P;P	0.41710	0.76;0.76;0.76	B;B;B	0.44163	0.443;0.443;0.443	T	0.03413	-1.1039	10	0.51188	T	0.08	.	20.0122	0.97464	0.0:0.0:1.0:0.0	.	775;886;934	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	N	936;886;934;773	ENSP00000193532:D886N	ENSP00000306782:D773N	D	+	1	0	PTPRC	196979914	1.000000	0.71417	0.986000	0.45419	0.945000	0.59286	4.095000	0.57728	2.724000	0.93272	0.637000	0.83480	GAT		0.373	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				6	20	0	0	0	0	6	20				
GPR25	2848	broad.mit.edu	37	1	200842300	200842300	+	Silent	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:200842300C>G	ENST00000304244.2	+	1	218	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	45					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						TCCCCGCGCTCTACCTGGCGG	0.721																																						uc001gvn.1		NA																	0				ovary(1)	1						c.(133-135)CTC>CTG		G protein-coupled receptor 25							29.0	27.0	27.0					1																	200842300		2203	4298	6501	SO:0001819	synonymous_variant	2848					integral to plasma membrane		g.chr1:200842300C>G	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.135C>G	1.37:g.200842300C>G							p.L45L	NM_005298	NP_005289	O00155	GPR25_HUMAN			1	135	+			45			Helical; Name=1; (Potential).		A0AVJ5	Silent	SNP	ENST00000304244.2	37	c.135C>G	CCDS1405.1																																																																																				0.721	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		5	18	0	0	0	0	5	18				
KIF21B	23046	broad.mit.edu	37	1	200954056	200954056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:200954056C>T	ENST00000422435.2	-	27	4050	c.3734G>A	c.(3733-3735)cGg>cAg	p.R1245Q	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1245Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1245Q|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1245Q	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1245					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATTGCGGGGCCGAGTGGGAGG	0.627																																						uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(3733-3735)CGG>CAG		kinesin family member 21B							92.0	85.0	87.0					1																	200954056		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200954056C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3734G>A	1.37:g.200954056C>T	ENSP00000411831:p.Arg1245Gln					KIF21B_uc001gvr.1_Missense_Mutation_p.R1245Q|KIF21B_uc009wzl.1_Missense_Mutation_p.R1245Q|KIF21B_uc010ppn.1_Missense_Mutation_p.R1245Q	p.R1245Q	NM_017596	NP_060066	O75037	KI21B_HUMAN			27	4051	-			1245					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.3734G>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823626	0.90873	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72942	-0.33;-0.63;-0.7;-0.39	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	M	0.65498	2.005	0.52501	D	0.999956	D;D;D;D	0.56287	0.958;0.958;0.958;0.975	B;B;B;P	0.44897	0.382;0.382;0.273;0.463	T	0.70360	-0.4893	10	0.21540	T	0.41	.	19.5116	0.95144	0.0:1.0:0.0:0.0	.	1245;1245;1245;1245	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	Q	1245	ENSP00000328494:R1245Q;ENSP00000353724:R1245Q;ENSP00000433808:R1245Q;ENSP00000411831:R1245Q	ENSP00000328494:R1245Q	R	-	2	0	KIF21B	199220679	0.999000	0.42202	0.996000	0.52242	0.985000	0.73830	7.161000	0.77505	2.615000	0.88500	0.561000	0.74099	CGG		0.627	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		12	48	0	0	0	0	12	48				
GPR37L1	9283	broad.mit.edu	37	1	202097163	202097163	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:202097163C>T	ENST00000367282.5	+	2	1031	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	309					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCAGAACGCCCGCATGTGGTG	0.612																																						uc001gxj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(925-927)CGC>TGC		G-protein coupled receptor 37 like 1 precursor							80.0	71.0	74.0					1																	202097163		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097163C>T	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.925C>T	1.37:g.202097163C>T	ENSP00000356251:p.Arg309Cys						p.R309C	NM_004767	NP_004758	O60883	ETBR2_HUMAN			2	988	+			309			Extracellular (Potential).		B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.925C>T	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077787	0.76528	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.37584	1.19	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65446	-0.6166	10	0.72032	D	0.01	-50.2138	14.1035	0.65072	0.151:0.849:0.0:0.0	.	309	O60883	ETBR2_HUMAN	C	176;309	ENSP00000356251:R309C	ENSP00000356251:R309C	R	+	1	0	GPR37L1	200363786	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.061000	0.49963	2.354000	0.79902	0.561000	0.74099	CGC		0.612	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		25	64	0	0	0	0	25	64				
SLC45A3	85414	broad.mit.edu	37	1	205631061	205631061	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:205631061G>A	ENST00000367145.3	-	4	1447	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	384					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGAACCCGGTGAGGGCGGCTG	0.622			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	uc001hda.1		NA		Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	ETV1|ETV5|ELK4|ERG		prostate 	SLC45A3/BRAF(2)	0				ovary(2)|prostate(2)	4						c.(1150-1152)CTC>CTT		prostein							65.0	61.0	62.0					1																	205631061		2203	4300	6503	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205631061G>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1152C>T	1.37:g.205631061G>A						SLC45A3_uc010prn.1_Silent_p.L62L|SLC45A3_uc010pro.1_Silent_p.L218L|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	p.L384L	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		4	1491	-	Breast(84;0.07)		384			Helical; Name=10; (Potential).		A8K2U9	Silent	SNP	ENST00000367145.3	37	c.1152C>T	CCDS1458.1																																																																																				0.622	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		11	48	0	0	0	0	11	48				
OBSCN	84033	broad.mit.edu	37	1	228468382	228468382	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:228468382C>T	ENST00000422127.1	+	30	8126	c.8082C>T	c.(8080-8082)ttC>ttT	p.F2694F	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.F2694F|OBSCN_ENST00000570156.2_Silent_p.F3123F|OBSCN_ENST00000359599.6_Silent_p.F1541F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2694	Ig-like 26.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTATGACTTCCTGCACACGG	0.682																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(8080-8082)TTC>TTT		obscurin, cytoskeletal calmodulin and							54.0	63.0	60.0					1																	228468382		2145	4250	6395	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228468382C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8082C>T	1.37:g.228468382C>T						OBSCN_uc001hsn.2_Silent_p.F2694F|OBSCN_uc001hsp.1_Silent_p.F393F|OBSCN_uc001hsq.1_5'UTR	p.F2694F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			30	8126	+		Prostate(94;0.0405)	2694			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.8082C>T	CCDS58065.1																																																																																				0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		28	102	0	0	0	0	28	102				
KIAA1804	84451	broad.mit.edu	37	1	233489592	233489592	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:233489592C>T	ENST00000366624.3	+	3	1287	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	MLK4_ENST00000366623.3_Silent_p.V342V	NM_032435.2	NP_115811.2																					CCGGAGAAGTCCCCTATCGGG	0.517																																						uc001hvt.3		NA																	0				lung(5)|central_nervous_system(2)|skin(1)	8						c.(1024-1026)GTC>GTT		mixed lineage kinase 4							106.0	101.0	103.0					1																	233489592		2203	4300	6503	SO:0001819	synonymous_variant	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233489592C>T																												ENST00000366624.3:c.1026C>T	1.37:g.233489592C>T						KIAA1804_uc001hvs.1_Silent_p.V342V	p.V342V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			3	1287	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	342			Protein kinase.			Silent	SNP	ENST00000366624.3	37	c.1026C>T	CCDS1598.1																																																																																				0.517	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			18	57	0	0	0	0	18	57				
OR2L2	26246	broad.mit.edu	37	1	248201622	248201622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:248201622C>A	ENST00000366479.2	+	1	149	c.53C>A	c.(52-54)cCa>cAa	p.P18Q	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGGCTGTTCCCACAATCAAGA	0.368																																						uc001idw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(52-54)CCA>CAA		olfactory receptor, family 2, subfamily L,							153.0	147.0	149.0					1																	248201622		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201622C>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.53C>A	1.37:g.248201622C>A	ENSP00000355435:p.Pro18Gln					OR2L13_uc001ids.2_Intron	p.P18Q	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	149	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		18			Extracellular (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.53C>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	2.509	-0.313320	0.05422	.	.	ENSG00000203663	ENST00000366479	T	0.00502	6.95	1.8	0.847	0.18961	.	.	.	.	.	T	0.00300	0.0009	N	0.01464	-0.85	0.09310	N	1	B	0.33748	0.423	P	0.45232	0.474	T	0.48514	-0.9029	9	0.33141	T	0.24	.	6.2722	0.20961	0.0:0.8255:0.0:0.1745	.	18	Q8NH16	OR2L2_HUMAN	Q	18	ENSP00000355435:P18Q	ENSP00000355435:P18Q	P	+	2	0	OR2L2	246268245	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-3.460000	0.00463	0.122000	0.18314	-1.026000	0.02426	CCA		0.368	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		43	135	1	0	1.38e-09	3.73e-09	43	135				
MYO3A	53904	broad.mit.edu	37	10	26377303	26377303	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:26377303C>T	ENST00000265944.5	+	15	1697	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	MYO3A_ENST00000543632.1_Silent_p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	511	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAATATCTCCTGGAAAAATC	0.343																																						uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1531-1533)CTG>TTG		myosin IIIA							62.0	64.0	64.0					10																	26377303		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377303C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1531C>T	10.37:g.26377303C>T						MYO3A_uc009xko.1_Silent_p.L511L|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.L511L	p.L511L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			15	1891	+			511			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.1531C>T	CCDS7148.1																																																																																				0.343	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		4	36	0	0	0	0	4	36				
ITGB1	3688	broad.mit.edu	37	10	33199181	33199181	+	Missense_Mutation	SNP	C	C	T	rs373574635		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:33199181C>T	ENST00000396033.2	-	14	2269	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	ITGB1_ENST00000423113.1_Missense_Mutation_p.E712K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E712K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E712K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	712					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	ACCATGACCTCGTTGTTCCCA	0.423																																						uc001iws.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2134-2136)GAG>AAG		integrin beta 1 isoform 1A precursor		C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	84.0	74.0	77.0		2134,2134,2134	5.9	0.1	10		77	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ITGB1	NM_002211.3,NM_033668.2,NM_133376.2	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	712/799,712/802,712/799	33199181	1,13005	2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33199181C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2134G>A	10.37:g.33199181C>T	ENSP00000379350:p.Glu712Lys					ITGB1_uc001iwp.3_Missense_Mutation_p.E712K|ITGB1_uc001iwq.3_Missense_Mutation_p.E712K|ITGB1_uc001iwr.3_Missense_Mutation_p.E712K|ITGB1_uc001iwt.3_Missense_Mutation_p.E712K|ITGB1_uc001iwu.1_Missense_Mutation_p.E712K	p.E712K	NM_133376	NP_596867	P05556	ITB1_HUMAN			14	2270	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	712			Extracellular (Potential).		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.2134G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	3.207	-0.162550	0.06502	0.0	1.16E-4	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.95	5.95	0.96441	Integrin beta subunit, tail (2);	0.093893	0.64402	D	0.000001	T	0.80979	0.4728	L	0.33137	0.985	0.53005	D	0.999963	B;B;B;B;B	0.22211	0.066;0.047;0.038;0.066;0.038	B;B;B;B;B	0.14578	0.009;0.011;0.009;0.006;0.009	T	0.73714	-0.3896	10	0.02654	T	1	.	14.5855	0.68320	0.0:0.9309:0.0:0.0691	.	712;712;712;712;712	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	K	712	ENSP00000379350:E712K;ENSP00000388694:E712K;ENSP00000303351:E712K;ENSP00000364094:E712K	ENSP00000303351:E712K	E	-	1	0	ITGB1	33239187	0.998000	0.40836	0.107000	0.21349	0.002000	0.02628	4.588000	0.60999	2.835000	0.97688	0.650000	0.86243	GAG		0.423	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		4	30	0	0	0	0	4	30				
ITGB1	3688	broad.mit.edu	37	10	33200509	33200509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:33200509C>T	ENST00000396033.2	-	13	1933	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	ITGB1_ENST00000423113.1_Missense_Mutation_p.E600K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E600K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E600K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	600	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TTGCTGGCTTCACAAGTACTA	0.493																																						uc001iws.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1798-1800)GAA>AAA		integrin beta 1 isoform 1A precursor							143.0	141.0	142.0					10																	33200509		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200509C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1798G>A	10.37:g.33200509C>T	ENSP00000379350:p.Glu600Lys					ITGB1_uc001iwp.3_Missense_Mutation_p.E600K|ITGB1_uc001iwq.3_Missense_Mutation_p.E600K|ITGB1_uc001iwr.3_Missense_Mutation_p.E600K|ITGB1_uc001iwt.3_Missense_Mutation_p.E600K|ITGB1_uc001iwu.1_Missense_Mutation_p.E600K	p.E600K	NM_133376	NP_596867	P05556	ITB1_HUMAN			13	1934	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	600			Extracellular (Potential).|Cysteine-rich tandem repeats.|IV.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1798G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326093	0.24080	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.62	-5.0	0.03001	EGF, extracellular (1);	0.503564	0.25025	N	0.033725	T	0.78755	0.4333	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.13145	0.004;0.005;0.004;0.001;0.007	B;B;B;B;B	0.23018	0.025;0.043;0.033;0.003;0.041	T	0.65340	-0.6192	10	0.30854	T	0.27	.	2.3402	0.04258	0.1071:0.2708:0.3298:0.2923	.	600;600;600;600;600	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	K	600	ENSP00000379350:E600K;ENSP00000388694:E600K;ENSP00000303351:E600K;ENSP00000364094:E600K	ENSP00000303351:E600K	E	-	1	0	ITGB1	33240515	0.008000	0.16893	0.000000	0.03702	0.111000	0.19643	-0.273000	0.08548	-0.651000	0.05415	0.655000	0.94253	GAA		0.493	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		27	138	0	0	0	0	27	138				
AGAP4	119016	broad.mit.edu	37	10	51225526	51225526	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:51225526G>C	ENST00000425119.2	-	7	1581	c.1456C>G	c.(1456-1458)Ctt>Gtt	p.L486V	AGAP8_ENST00000602930.1_Missense_Mutation_p.L470V	NM_001077686.1|NM_001276344.1	NP_001071154.1|NP_001263273.1	Q5SRD3	AGAP8_HUMAN		486	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						CGGGTGCCAAGACTGTGGTGG	0.522																																						uc001jij.2		NA																	0					0						c.(1456-1458)CTT>GTT		ArfGAP with GTPase domain, ankyrin repeat and PH							127.0	132.0	130.0					10																	51225526		2190	4267	6457	SO:0001583	missense	728404				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51225526G>C																												ENST00000425119.2:c.1456C>G	10.37:g.51225526G>C	ENSP00000415452:p.Leu486Val					PARG_uc001jih.2_Intron|PARG_uc001jif.2_Intron|PARG_uc001jig.2_Intron|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Intron|PARG_uc009xoj.2_Intron|PARG_uc010qgx.1_Intron|AGAP8_uc009xom.2_Missense_Mutation_p.L401V|AGAP8_uc001jik.2_Missense_Mutation_p.L470V|AGAP8_uc010qgy.1_Missense_Mutation_p.L509V|uc001jil.1_5'Flank	p.L486V	NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN			7	1582	-			486			Arf-GAP.			Missense_Mutation	SNP	ENST00000425119.2	37	c.1456C>G	CCDS41522.1	.	.	.	.	.	.	.	.	.	.	g	10.63	1.404485	0.25378	.	.	ENSG00000174194	ENST00000311652;ENST00000425119	T	0.60171	0.21	.	.	.	.	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.93720	3.45	0.45097	D	0.998111	P;D;D;D	0.69078	0.929;0.993;0.993;0.997	P;D;P;D	0.77557	0.803;0.99;0.792;0.955	T	0.73736	-0.3889	9	0.87932	D	0	.	5.656	0.17642	0.0:0.3387:0.6612:0.0	.	509;262;509;486	C9JET2;F8W778;Q5VW22-2;Q5SRD3	.;.;.;AGAP8_HUMAN	V	262;486	ENSP00000415452:L486V	ENSP00000309985:L262V	L	-	1	0	AGAP8	50895532	1.000000	0.71417	0.010000	0.14722	0.010000	0.07245	4.794000	0.62482	0.107000	0.17824	0.109000	0.15622	CTT		0.522	AGAP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048022.2			5	290	0	0	0	0	5	290				
AGAP7P	653268	broad.mit.edu	37	10	51465428	51465428	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:51465428T>C	ENST00000374095.5	-	7	1153	c.1028A>G	c.(1027-1029)gAc>gGc	p.D343G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		343	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GGTGTCCATGTCCTTGGATAG	0.557																																						uc001jio.2		NA																	0					0						c.(1027-1029)GAC>GGC		ArfGAP with GTPase domain, ankyrin repeat and PH							115.0	136.0	129.0					10																	51465428		2202	4300	6502	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465428T>C																												ENST00000374095.5:c.1028A>G	10.37:g.51465428T>C	ENSP00000363208:p.Asp343Gly					PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	p.D343G	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN			7	1154	-			343			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1028A>G	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	9.258	1.042397	0.19748	.	.	ENSG00000204169	ENST00000374095	T	0.56611	0.45	.	.	.	Pleckstrin homology domain (3);	0.720818	0.12823	N	0.436252	T	0.48874	0.1524	L	0.55213	1.73	0.27492	N	0.952267	B	0.26635	0.155	B	0.39339	0.297	T	0.51450	-0.8704	9	0.40728	T	0.16	.	4.6093	0.12395	0.0:5.0E-4:0.0:0.9995	.	343	Q5VUJ5	AGAP7_HUMAN	G	343	ENSP00000363208:D343G	ENSP00000363208:D343G	D	-	2	0	AGAP7	51135434	1.000000	0.71417	0.020000	0.16555	0.020000	0.10135	1.998000	0.40796	0.149000	0.19098	0.147000	0.16070	GAC		0.557	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			48	221	0	0	0	0	48	221				
LRRTM3	347731	broad.mit.edu	37	10	68687810	68687810	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:68687810C>A	ENST00000361320.4	+	2	1714	c.1136C>A	c.(1135-1137)aCg>aAg	p.T379K	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	379					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCAAAGCCGACGTTTAAGCCC	0.577																																						uc001jmz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1135-1137)ACG>AAG		leucine rich repeat transmembrane neuronal 3							58.0	61.0	60.0					10																	68687810		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687810C>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1136C>A	10.37:g.68687810C>A	ENSP00000355187:p.Thr379Lys					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.T379K	p.T379K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1686	+			379			Extracellular (Potential).		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1136C>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323414	0.41096	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.75154	-0.91	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	T	0.70211	0.3198	L	0.40543	1.245	0.80722	D	1	B;B	0.32781	0.384;0.18	B;B	0.35073	0.147;0.195	T	0.65829	-0.6073	10	0.31617	T	0.26	.	19.1373	0.93433	0.0:1.0:0.0:0.0	.	379;379	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	379	ENSP00000355187:T379K	ENSP00000355187:T379K	T	+	2	0	LRRTM3	68357816	0.094000	0.21725	0.510000	0.27712	0.971000	0.66376	1.756000	0.38390	2.820000	0.97059	0.650000	0.86243	ACG		0.577	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		17	58	1	0	2e-07	5.36e-07	17	58				
COL13A1	1305	broad.mit.edu	37	10	71631932	71631932	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:71631932C>T	ENST00000356340.3	+	3	901	c.365C>T	c.(364-366)gCa>gTa	p.A122V	COL13A1_ENST00000398972.3_Intron|COL13A1_ENST00000398968.3_Splice_Site_p.A122V|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398971.3_Splice_Site_p.A122V|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000398978.3_Intron|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000398973.3_Intron|COL13A1_ENST00000398974.3_Splice_Site_p.A122V|COL13A1_ENST00000398966.3_Splice_Site_p.A122V|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398964.3_Splice_Site_p.A122V|COL13A1_ENST00000522165.1_Intron|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398969.3_Intron					collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CGTCACTCTTCATTTCAGGGT	0.483																																						uc001jpr.1		NA																	0				ovary(1)	1						c.(364-366)GCA>GTA		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						162.0	160.0	160.0					10																	71631932		1960	4141	6101	SO:0001630	splice_region_variant	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71631932C>T	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000356340.3:c.365-1C>T	10.37:g.71631932C>T						COL13A1_uc001jqj.1_Missense_Mutation_p.A122V|COL13A1_uc001jps.1_Missense_Mutation_p.A122V|COL13A1_uc001jpt.1_Missense_Mutation_p.A122V|COL13A1_uc001jpu.1_Missense_Mutation_p.A122V|COL13A1_uc001jpv.1_Missense_Mutation_p.A122V|COL13A1_uc001jpx.1_Missense_Mutation_p.A122V|COL13A1_uc001jpw.1_Missense_Mutation_p.A122V|COL13A1_uc001jpy.1_Intron|COL13A1_uc001jpz.1_Intron|COL13A1_uc001jqa.1_Intron|COL13A1_uc001jqc.1_Missense_Mutation_p.A122V|COL13A1_uc001jqb.1_Missense_Mutation_p.A122V|COL13A1_uc001jql.2_Intron|COL13A1_uc001jqd.1_Missense_Mutation_p.A122V|COL13A1_uc001jqe.1_Missense_Mutation_p.A122V|COL13A1_uc001jqf.1_Missense_Mutation_p.A122V|COL13A1_uc001jqg.1_Missense_Mutation_p.A122V|COL13A1_uc001jqh.1_Missense_Mutation_p.A122V|COL13A1_uc001jqi.1_Missense_Mutation_p.A122V|COL13A1_uc010qjf.1_Intron|COL13A1_uc001jqk.1_Intron	p.A122V	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			3	901	+			122			Extracellular (Potential).|Triple-helical region 1 (COL1).			Missense_Mutation	SNP	ENST00000356340.3	37	c.365C>T		.	.	.	.	.	.	.	.	.	.	C	12.08	1.831870	0.32421	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000356340	D;D;D;D;T;D	0.91295	-2.81;-2.74;-2.79;-2.82;1.99;-2.82	4.93	1.22	0.21188	.	.	.	.	.	T	0.80513	0.4637	.	.	.	0.09310	N	1	B;B;B;B;B;B	0.19445	0.0;0.0;0.021;0.0;0.0;0.036	B;B;B;B;B;B	0.16289	0.0;0.0;0.007;0.0;0.001;0.015	T	0.63834	-0.6547	7	.	.	.	.	3.5835	0.07962	0.3414:0.0966:0.0:0.562	.	122;122;122;122;122;122	E7ES55;E7ES51;E7ES46;E7ES49;E7ES56;G5E987	.;.;.;.;.;.	V	122	ENSP00000381946:A122V;ENSP00000381943:A122V;ENSP00000381940:A122V;ENSP00000381938:A122V;ENSP00000381936:A122V;ENSP00000348695:A122V	.	A	+	2	0	COL13A1	71301938	0.001000	0.12720	0.007000	0.13788	0.734000	0.41952	0.025000	0.13577	0.100000	0.17581	-0.302000	0.09304	GCA		0.483	COL13A1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_005203	Missense_Mutation	8	36	0	0	0	0	8	36				
C10orf54	64115	broad.mit.edu	37	10	73515124	73515124	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:73515124G>C	ENST00000394957.3	-	4	726	c.668C>G	c.(667-669)tCc>tGc	p.S223C	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	223					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ACGGCGGTTGGAGGCTGCCTG	0.637																																						uc001jsd.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(667-669)TCC>TGC		platelet receptor Gi24 precursor							38.0	32.0	34.0					10																	73515124		2203	4298	6501	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73515124G>C	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.668C>G	10.37:g.73515124G>C	ENSP00000378409:p.Ser223Cys					CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Missense_Mutation_p.S91C|C10orf54_uc009xqm.2_Missense_Mutation_p.S61C	p.S223C	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN			4	809	-			223			Cytoplasmic (Potential).		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.668C>G	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646014	0.67358	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.55234	0.53	5.22	5.22	0.72569	.	0.454788	0.25830	N	0.028040	T	0.63094	0.2482	L	0.55481	1.735	0.47123	D	0.999326	D;D	0.69078	0.997;0.997	P;P	0.57371	0.819;0.754	T	0.66484	-0.5912	10	0.87932	D	0	-0.2412	14.4001	0.67037	0.0:0.2639:0.7361:0.0	.	223;223	A4ZYV1;Q9H7M9	.;GI24_HUMAN	C	223;219	ENSP00000378409:S223C	ENSP00000263569:S219C	S	-	2	0	C10orf54	73185130	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.555000	0.45854	2.449000	0.82847	0.462000	0.41574	TCC		0.637	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		7	18	0	0	0	0	7	18				
CDH23	64072	broad.mit.edu	37	10	73537541	73537541	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:73537541C>T	ENST00000224721.6	+	38	4970	c.4965C>T	c.(4963-4965)ctC>ctT	p.L1655L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1650	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGACACGCTCAACACCAGCC	0.582																																						uc001jrx.3		NA																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(4948-4950)CTC>CTT		cadherin-like 23 isoform 1 precursor																																				SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73537541C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4965C>T	10.37:g.73537541C>T							p.L1650L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			37	5327	+			1650			Cadherin 16.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.4950C>T																																																																																					0.582	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		13	38	0	0	0	0	13	38				
CYP26C1	340665	broad.mit.edu	37	10	94828253	94828253	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:94828253G>A	ENST00000285949.5	+	6	1368	c.1368G>A	c.(1366-1368)gcG>gcA	p.A456A		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	456					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCGGCGGTGCGCGCAGCTGCC	0.706																																						uc010qns.1		NA																	0				central_nervous_system(1)	1						c.(1366-1368)GCG>GCA		cytochrome P450, family 26, subfamily C,							6.0	9.0	8.0					10																	94828253		1966	3969	5935	SO:0001819	synonymous_variant	340665				anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94828253G>A		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"""Cytochrome P450s"""	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.1368G>A	10.37:g.94828253G>A						CYP26C1_uc009xud.2_RNA	p.A456A	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN			6	1368	+		Colorectal(252;0.122)	456					Q5VXH6	Silent	SNP	ENST00000285949.5	37	c.1368G>A	CCDS7425.1																																																																																				0.706	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		5	24	0	0	0	0	5	24				
ENTPD7	57089	broad.mit.edu	37	10	101458317	101458317	+	Missense_Mutation	SNP	G	G	A	rs187682149		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:101458317G>A	ENST00000370489.4	+	10	1215	c.1037G>A	c.(1036-1038)aGt>aAt	p.S346N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	346						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACAGGTCTGAGTCCCGACAAT	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18656	0.0		0.0	False		,,,				2504	0.0					uc001kqa.3		NA																	0				ovary(1)	1						c.(1036-1038)AGT>AAT		ectonucleoside triphosphate diphosphohydrolase							86.0	80.0	82.0					10																	101458317		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101458317G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1037G>A	10.37:g.101458317G>A	ENSP00000359520:p.Ser346Asn					ENTPD7_uc009xwl.2_Missense_Mutation_p.S348N	p.S346N	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	10	1215	+		Colorectal(252;0.234)	346			Vesicular (Potential).		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.1037G>A	CCDS7480.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.33	1.905692	0.33628	.	.	ENSG00000198018	ENST00000370489	T	0.15256	2.44	4.96	2.99	0.34606	.	0.291227	0.36234	N	0.002713	T	0.15176	0.0366	M	0.62154	1.92	0.31069	N	0.71327	B	0.06786	0.001	B	0.15052	0.012	T	0.11179	-1.0598	10	0.17369	T	0.5	-7.6656	7.0195	0.24907	0.153:0.308:0.539:0.0	.	346	Q9NQZ7	ENTP7_HUMAN	N	346	ENSP00000359520:S346N	ENSP00000359520:S346N	S	+	2	0	ENTPD7	101448307	0.975000	0.34042	0.999000	0.59377	0.862000	0.49288	1.675000	0.37555	1.303000	0.44873	-0.175000	0.13238	AGT		0.473	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		15	43	0	0	0	0	15	43				
FAM178A	55719	broad.mit.edu	37	10	102676401	102676401	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:102676401G>C	ENST00000238961.4	+	3	801	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	FAM178A_ENST00000370271.3_Missense_Mutation_p.E87Q|FAM178A_ENST00000370269.3_Missense_Mutation_p.E87Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	87						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CACTGGGACAGAGCAGTTTGA	0.373																																						uc001krt.3		NA																	0					0						c.(259-261)GAG>CAG		hypothetical protein LOC55719 isoform 1							74.0	71.0	72.0					10																	102676401		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102676401G>C	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.259G>C	10.37:g.102676401G>C	ENSP00000238961:p.Glu87Gln					FAM178A_uc001krr.1_Missense_Mutation_p.E87Q|FAM178A_uc001krs.2_Missense_Mutation_p.E87Q|FAM178A_uc001kru.1_Missense_Mutation_p.E23Q	p.E87Q	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			3	801	+			87					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.259G>C	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466380	0.63625	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.56776	0.44;1.06;1.04	5.84	4.95	0.65309	.	0.114268	0.39909	N	0.001228	T	0.53690	0.1812	L	0.27053	0.805	0.26964	N	0.965745	P;P;D	0.61080	0.911;0.911;0.989	P;P;P	0.58266	0.628;0.628;0.836	T	0.49263	-0.8958	10	0.41790	T	0.15	-9.5744	12.3069	0.54908	0.0787:0.0:0.9213:0.0	.	87;87;87	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	Q	87	ENSP00000359294:E87Q;ENSP00000238961:E87Q;ENSP00000359292:E87Q	ENSP00000238961:E87Q	E	+	1	0	FAM178A	102666391	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.453000	0.44970	1.502000	0.48669	-0.123000	0.14984	GAG		0.373	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			10	26	0	0	0	0	10	26				
HPS6	79803	broad.mit.edu	37	10	103826348	103826348	+	Missense_Mutation	SNP	G	G	A	rs140222296		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:103826348G>A	ENST00000299238.5	+	1	1202	c.1117G>A	c.(1117-1119)Ggg>Agg	p.G373R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	373					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAGACCCGAGGGAATCTTCG	0.572									Hermansky-Pudlak syndrome																													uc001kuj.2		NA																	0					0						c.(1117-1119)GGG>AGG		Hermansky-Pudlak syndrome-6		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	50.0	52.0	52.0		1117	2.9	0.0	10	dbSNP_134	52	0,8600		0,0,4300	no	missense	HPS6	NM_024747.5	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	373/776	103826348	1,13005	2203	4300	6503	SO:0001583	missense	79803	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826348G>A	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1117G>A	10.37:g.103826348G>A	ENSP00000299238:p.Gly373Arg						p.G373R	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1202	+		Colorectal(252;0.122)	373					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.1117G>A	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851838	0.32699	2.27E-4	0.0	ENSG00000166189	ENST00000299238	T	0.80738	-1.41	4.78	2.93	0.34026	.	0.547915	0.18504	N	0.139273	T	0.75568	0.3867	L	0.57536	1.79	0.09310	N	0.999999	B	0.14012	0.009	B	0.16722	0.016	T	0.67377	-0.5686	10	0.62326	D	0.03	-8.4468	9.2905	0.37784	0.2424:0.0:0.7576:0.0	.	373	Q86YV9	HPS6_HUMAN	R	373	ENSP00000299238:G373R	ENSP00000299238:G373R	G	+	1	0	HPS6	103816338	0.959000	0.32827	0.044000	0.18714	0.728000	0.41692	1.777000	0.38604	0.625000	0.30304	0.561000	0.74099	GGG		0.572	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		11	60	0	0	0	0	11	60				
GPAM	57678	broad.mit.edu	37	10	113933472	113933472	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:113933472G>A	ENST00000348367.4	-	7	742	c.545C>T	c.(544-546)tCa>tTa	p.S182L	GPAM_ENST00000369425.1_Missense_Mutation_p.S182L|GPAM_ENST00000423155.1_Missense_Mutation_p.S182L			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	182					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CATTGCCGGTGAGACAGTGGC	0.403																																					Ovarian(161;1017 2606 18293 52943)	uc009xxy.1		NA																	0				ovary(1)|skin(1)	2						c.(544-546)TCA>TTA		mitochondrial glycerol 3-phosphate							158.0	136.0	143.0					10																	113933472		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113933472G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.545C>T	10.37:g.113933472G>A	ENSP00000265276:p.Ser182Leu					GPAM_uc001kzp.2_Missense_Mutation_p.S182L|GPAM_uc001kzq.1_Missense_Mutation_p.S182L	p.S182L	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	7	743	-			182					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.545C>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840091	0.71488	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.73363	-0.74;-0.74;-0.72	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.85626	0.5740	M	0.66939	2.045	0.80722	D	1	D;D	0.63880	0.993;0.981	D;D	0.72338	0.977;0.966	D	0.85866	0.1413	10	0.87932	D	0	-14.167	18.7178	0.91682	0.0:0.0:1.0:0.0	.	182;182	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	L	182	ENSP00000265276:S182L;ENSP00000409242:S182L;ENSP00000358433:S182L	ENSP00000265276:S182L	S	-	2	0	GPAM	113923462	1.000000	0.71417	0.989000	0.46669	0.941000	0.58515	8.685000	0.91246	2.857000	0.98124	0.650000	0.86243	TCA		0.403	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		19	47	0	0	0	0	19	47				
RIC8A	60626	broad.mit.edu	37	11	205338	205338	+	5'Flank	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:205338G>A	ENST00000526104.1	+	0	0				BET1L_ENST00000486280.1_Silent_p.F77F|BET1L_ENST00000382762.3_Silent_p.F100F|BET1L_ENST00000410108.1_Intron|BET1L_ENST00000325147.9_3'UTR|RP11-304M2.5_ENST00000526963.1_RNA|BET1L_ENST00000529614.2_Silent_p.F81F|BET1L_ENST00000332865.6_3'UTR			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAGAGGATGAAGAAGGCCA	0.567																																						uc001loe.2		NA																	0					0						c.(298-300)TTC>TTT		blocked early in transport 1 homolog (S.							63.0	69.0	67.0					11																	205338		2203	4300	6503	SO:0001631	upstream_gene_variant	51272				protein transport|retrograde transport, endosome to Golgi	endosome|SNARE complex	SNAP receptor activity	g.chr11:205338G>A	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069		11.37:g.205338G>A	Exception_encountered					BET1L_uc001lod.2_3'UTR	p.F100F	NM_001098787	NP_001092257	Q9NYM9	BET1L_HUMAN		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	401	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	100			Helical; Anchor for type IV membrane protein; (Potential).		Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	ENST00000526104.1	37	c.300C>T																																																																																					0.567	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		9	28	0	0	0	0	9	28				
STK33	65975	broad.mit.edu	37	11	8478907	8478907	+	Silent	SNP	T	T	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:8478907T>A	ENST00000447869.1	-	5	1596	c.678A>T	c.(676-678)atA>atT	p.I226I	STK33_ENST00000315204.1_Silent_p.I226I|STK33_ENST00000396672.1_Silent_p.I226I|STK33_ENST00000534493.1_Silent_p.I185I|STK33_ENST00000396673.1_Silent_p.I226I|STK33_ENST00000358872.3_Silent_p.I39I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAAGATATGCTATAGCTGATG	0.388																																						uc001mgi.1		NA																	0				ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(676-678)ATA>ATT		serine/threonine kinase 33							140.0	131.0	134.0					11																	8478907		2201	4296	6497	SO:0001819	synonymous_variant	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8478907T>A	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.678A>T	11.37:g.8478907T>A						STK33_uc001mgj.1_Silent_p.I226I|STK33_uc001mgk.1_Silent_p.I226I|STK33_uc010rbn.1_Silent_p.I185I|STK33_uc001mgl.3_Silent_p.I39I|STK33_uc009yfp.2_Intron	p.I226I	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	5	1597	-			226			Protein kinase.		Q658S6|Q8NEF5	Silent	SNP	ENST00000447869.1	37	c.678A>T	CCDS7789.1																																																																																				0.388	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		12	39	0	0	0	0	12	39				
PAMR1	25891	broad.mit.edu	37	11	35456112	35456112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:35456112C>T	ENST00000378880.2	-	10	2019	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	PAMR1_ENST00000532848.1_Missense_Mutation_p.G485E|PAMR1_ENST00000378878.3_Missense_Mutation_p.G414E|PAMR1_ENST00000278360.3_Missense_Mutation_p.G542E	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	525	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTAGAATTTCCCCAAAACAAC	0.537																																						uc001mwg.2		NA																	0				ovary(2)	2						c.(1573-1575)GGG>GAG		regeneration associated muscle protease isoform							139.0	124.0	129.0					11																	35456112		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35456112C>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1574G>A	11.37:g.35456112C>T	ENSP00000368158:p.Gly525Glu					PAMR1_uc001mwf.2_Missense_Mutation_p.G542E|PAMR1_uc010rew.1_Missense_Mutation_p.G414E|PAMR1_uc010rex.1_Missense_Mutation_p.G485E	p.G525E	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			10	1617	-			525			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1574G>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105998	0.94292	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98975	0.9651	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99457	1.0942	10	0.87932	D	0	.	19.4297	0.94759	0.0:1.0:0.0:0.0	.	414;525;542	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	E	542;525;414;485;502	ENSP00000278360:G542E;ENSP00000368158:G525E;ENSP00000368156:G414E;ENSP00000433868:G485E;ENSP00000432591:G502E	ENSP00000278360:G542E	G	-	2	0	PAMR1	35412688	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.602000	0.87976	0.555000	0.69702	GGG		0.537	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		23	107	0	0	0	0	23	107				
F2	2147	broad.mit.edu	37	11	46747651	46747651	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:46747651G>A	ENST00000311907.5	+	7	858	c.802G>A	c.(802-804)Gat>Aat	p.D268N	F2_ENST00000530231.1_Missense_Mutation_p.D268N	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	268	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	CCCAGACGGGGATGAGGAGGG	0.632																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	uc001ndf.3		NA																	0				ovary(3)	3						c.(802-804)GAT>AAT		coagulation factor II preproprotein	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						78.0	90.0	86.0					11																	46747651		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46747651G>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.802G>A	11.37:g.46747651G>A	ENSP00000308541:p.Asp268Asn					F2_uc001ndg.3_RNA	p.D268N	NM_000506	NP_000497	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	7	845	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	268			Kringle 2.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.802G>A	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232761	0.79688	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	D;D;D	0.81908	-1.55;-1.55;-1.55	5.37	5.37	0.77165	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92054	0.7482	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92945	0.6375	10	0.87932	D	0	.	19.1051	0.93291	0.0:0.0:1.0:0.0	.	268	P00734	THRB_HUMAN	N	268;268;258	ENSP00000308541:D268N;ENSP00000433907:D268N;ENSP00000387413:D258N	ENSP00000308541:D268N	D	+	1	0	F2	46704227	1.000000	0.71417	0.769000	0.31535	0.068000	0.16541	9.842000	0.99487	2.509000	0.84616	0.563000	0.77884	GAT		0.632	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			21	121	0	0	0	0	21	121				
OR5L2	26338	broad.mit.edu	37	11	55594959	55594959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:55594959G>A	ENST00000378397.1	+	1	265	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTTTAACAAGGACAAAGCCAT	0.473										HNSCC(27;0.073)																												uc001nhy.1		NA																	0				ovary(1)	1						c.(265-267)GAC>AAC		olfactory receptor, family 5, subfamily L,							202.0	190.0	194.0					11																	55594959		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594959G>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.265G>A	11.37:g.55594959G>A	ENSP00000367650:p.Asp89Asn	HNSCC(27;0.073)					p.D89N	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	265	+		all_epithelial(135;0.208)	89			Extracellular (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.265G>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	5.276	0.236411	0.10023	.	.	ENSG00000205030	ENST00000378397	T	0.01335	5.0	5.21	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.629471	0.14922	N	0.290602	T	0.01454	0.0047	L	0.39245	1.2	0.09310	N	1	B	0.22851	0.076	B	0.23852	0.049	T	0.46803	-0.9165	10	0.15499	T	0.54	-19.6031	7.2662	0.26232	0.2829:0.0:0.7171:0.0	.	89	Q8NGL0	OR5L2_HUMAN	N	89	ENSP00000367650:D89N	ENSP00000367650:D89N	D	+	1	0	OR5L2	55351535	0.000000	0.05858	0.029000	0.17559	0.504000	0.33889	-0.828000	0.04419	1.368000	0.46115	0.626000	0.83405	GAC		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		53	68	0	0	0	0	53	68				
OR5M8	219484	broad.mit.edu	37	11	56258161	56258161	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:56258161G>C	ENST00000327216.2	-	1	710	c.686C>G	c.(685-687)tCt>tGt	p.S229C		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCCTCTGTAGAGCGAATCTT	0.413																																						uc001nix.1		NA																	0				central_nervous_system(1)	1						c.(685-687)TCT>TGT		olfactory receptor, family 5, subfamily M,							40.0	43.0	42.0					11																	56258161		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258161G>C	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.686C>G	11.37:g.56258161G>C	ENSP00000323354:p.Ser229Cys						p.S229C	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	686	-	Esophageal squamous(21;0.00352)		229			Cytoplasmic (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.686C>G	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	9.561	1.118405	0.20877	.	.	ENSG00000181371	ENST00000327216	T	0.00340	8.04	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001316	T	0.01092	0.0036	M	0.91354	3.2	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17018	-1.0383	10	0.87932	D	0	-17.9167	14.9018	0.70684	0.0:0.0:1.0:0.0	.	229	Q8NGP6	OR5M8_HUMAN	C	229	ENSP00000323354:S229C	ENSP00000323354:S229C	S	-	2	0	OR5M8	56014737	0.070000	0.21116	0.019000	0.16419	0.024000	0.10985	2.072000	0.41510	2.153000	0.67306	0.632000	0.83419	TCT		0.413	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		8	47	0	0	0	0	8	47				
OR5M11	219487	broad.mit.edu	37	11	56309925	56309925	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:56309925G>T	ENST00000528616.2	-	1	832	c.809C>A	c.(808-810)tCt>tAt	p.S270Y		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TATTATTTTAGATTCCTCAAC	0.408																																						uc010rjl.1		NA																	0					0						c.(808-810)TCT>TAT		olfactory receptor, family 5, subfamily M,							98.0	94.0	95.0					11																	56309925		1893	4122	6015	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56309925G>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.809C>A	11.37:g.56309925G>T	ENSP00000432417:p.Ser270Tyr						p.S270Y	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	809	-			270			Extracellular (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.809C>A	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567928	0.28003	.	.	ENSG00000255223	ENST00000528616	T	0.00137	8.68	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	L	0.42529	1.33	0.26815	N	0.968907	D	0.89917	1.0	D	0.76071	0.987	T	0.63400	-0.6646	9	0.87932	D	0	.	10.6952	0.45894	0.0:0.0:0.8096:0.1904	.	270	Q96RB7	OR5MB_HUMAN	Y	270	ENSP00000432417:S270Y	ENSP00000432417:S270Y	S	-	2	0	OR5M11	56066501	0.004000	0.15560	1.000000	0.80357	0.180000	0.23129	1.319000	0.33655	2.569000	0.86673	0.632000	0.83419	TCT		0.408	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		23	69	1	0	9.96e-16	2.76e-15	23	69				
PRG3	10394	broad.mit.edu	37	11	57145249	57145249	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:57145249G>A	ENST00000287143.2	-	5	677	c.568C>T	c.(568-570)Cca>Tca	p.P190S		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GGTTGCCCTGGGGACCAGTAA	0.557																																					Melanoma(154;1456 2519 19358 45229)	uc001njv.1		NA																	0					0						c.(568-570)CCA>TCA		proteoglycan 3 precursor							58.0	51.0	53.0					11																	57145249		2200	4295	6495	SO:0001583	missense	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57145249G>A	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.568C>T	11.37:g.57145249G>A	ENSP00000287143:p.Pro190Ser						p.P190S	NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN			5	678	-			190			C-type lectin.		Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000287143.2	37	c.568C>T	CCDS7954.1	.	.	.	.	.	.	.	.	.	.	G	1.912	-0.450493	0.04572	.	.	ENSG00000156575	ENST00000287143	T	0.44482	0.92	4.8	-9.59	0.00556	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.472120	0.04251	N	0.338695	T	0.27524	0.0676	L	0.31752	0.955	0.09310	N	1	B	0.16166	0.016	B	0.20767	0.031	T	0.23868	-1.0176	10	0.40728	T	0.16	4.8005	8.9924	0.36033	0.4548:0.2891:0.2561:0.0	.	190	Q9Y2Y8	PRG3_HUMAN	S	190	ENSP00000287143:P190S	ENSP00000287143:P190S	P	-	1	0	PRG3	56901825	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-3.123000	0.00594	-3.161000	0.00228	-1.267000	0.01435	CCA		0.557	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		12	34	0	0	0	0	12	34				
DDB1	1642	broad.mit.edu	37	11	61084032	61084032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:61084032C>T	ENST00000301764.7	-	11	1630	c.1233G>A	c.(1231-1233)tgG>tgA	p.W411*	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	411	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCGCAGTGGCCATAATCCTG	0.532								Nucleotide excision repair (NER)																														uc001nrc.3		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1231-1233)TGG>TGA	NER	damage-specific DNA binding protein 1							148.0	131.0	137.0					11																	61084032		2203	4299	6502	SO:0001587	stop_gained	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61084032C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1233G>A	11.37:g.61084032C>T	ENSP00000301764:p.Trp411*					DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Nonsense_Mutation_p.W411*|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Nonsense_Mutation_p.W411*	p.W411*	NM_001923	NP_001914	Q16531	DDB1_HUMAN			11	1459	-			411			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Nonsense_Mutation	SNP	ENST00000301764.7	37	c.1233G>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	42	9.391260	0.99156	.	.	ENSG00000167986	ENST00000301764;ENST00000535967;ENST00000539739;ENST00000535174	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3171	18.7925	0.91980	0.0:1.0:0.0:0.0	.	.	.	.	X	411;62;130;194	.	ENSP00000301764:W411X	W	-	3	0	DDB1	60840608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.455000	0.83008	0.643000	0.83706	TGG		0.532	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		29	104	0	0	0	0	29	104				
FADS2	9415	broad.mit.edu	37	11	61632693	61632693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:61632693G>T	ENST00000278840.4	+	11	1857	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	FADS2_ENST00000522056.1_Missense_Mutation_p.K378N|FADS2_ENST00000257261.6_Missense_Mutation_p.K387N	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	409					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TATGTGCCAAGCATGGCATTG	0.612																																						uc001nsl.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1225-1227)AAG>AAT		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						64.0	53.0	57.0					11																	61632693		2202	4299	6501	SO:0001583	missense	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61632693G>T	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.1227G>T	11.37:g.61632693G>T	ENSP00000278840:p.Lys409Asn					FADS2_uc001nsj.2_Missense_Mutation_p.K387N|FADS2_uc010rlo.1_Missense_Mutation_p.K378N	p.K409N	NM_004265	NP_004256	O95864	FADS2_HUMAN			11	1377	+			409			Cytoplasmic (Potential).		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	c.1227G>T	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659331	0.67586	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840	T;T;T	0.20332	2.08;2.08;2.08	4.78	3.87	0.44632	Fatty acid desaturase, type 1 (1);	0.000000	0.64402	D	0.000013	T	0.48857	0.1523	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.83275	0.991;0.996;0.988	T	0.53464	-0.8435	10	0.87932	D	0	1.1504	8.795	0.34874	0.1781:0.0:0.8219:0.0	.	378;409;387	B7Z634;O95864;O95864-2	.;FADS2_HUMAN;.	N	387;378;409	ENSP00000257261:K387N;ENSP00000429500:K378N;ENSP00000278840:K409N	ENSP00000257261:K387N	K	+	3	2	FADS2	61389269	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.900000	0.39828	1.134000	0.42165	0.462000	0.41574	AAG		0.612	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		18	55	1	0	4.76e-15	1.31e-14	18	55				
KAT5	10524	broad.mit.edu	37	11	65484420	65484420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:65484420C>T	ENST00000377046.3	+	11	1404	c.1132C>T	c.(1132-1134)Cgc>Tgc	p.R378C	KAT5_ENST00000352980.4_Missense_Mutation_p.R326C|KAT5_ENST00000534650.1_Missense_Mutation_p.R167C|KAT5_ENST00000530446.1_Missense_Mutation_p.R359C|KAT5_ENST00000341318.4_Missense_Mutation_p.R411C	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	378	Acetyl-CoA binding. {ECO:0000269|Ref.36}.|Interaction with ATF2.|MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TCCCTACCAGCGCCGGGGCTA	0.592																																						uc001ofi.2		NA																	0					0						c.(1132-1134)CGC>TGC		K(lysine) acetyltransferase 5 isoform 2							107.0	101.0	103.0					11																	65484420		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65484420C>T	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1132C>T	11.37:g.65484420C>T	ENSP00000366245:p.Arg378Cys					KAT5_uc001ofj.2_Missense_Mutation_p.R326C|KAT5_uc001ofk.2_Missense_Mutation_p.R411C|KAT5_uc010roo.1_Missense_Mutation_p.R359C|KAT5_uc001ofl.2_Missense_Mutation_p.R167C	p.R378C	NM_006388	NP_006379	Q92993	KAT5_HUMAN			11	1382	+			378			Acetyl-CoA binding.		B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.1132C>T	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247739	0.80024	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.56275	0.5;0.53;0.47;0.51	5.58	5.58	0.84498	Acyl-CoA N-acyltransferase (2);MOZ/SAS-like protein (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.60160	0.976;0.984;0.97;0.987	P;P;P;P	0.58077	0.832;0.583;0.741;0.707	T	0.82839	-0.0259	10	0.87932	D	0	-18.9285	12.0729	0.53626	0.1719:0.828:0.0:0.0	.	359;411;326;378	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	C	378;326;411;359;167	ENSP00000366245:R378C;ENSP00000344955:R326C;ENSP00000340330:R411C;ENSP00000434765:R359C	ENSP00000340330:R411C	R	+	1	0	KAT5	65240996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.294000	0.33365	2.638000	0.89438	0.655000	0.94253	CGC		0.592	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		28	85	0	0	0	0	28	85				
CATSPER1	117144	broad.mit.edu	37	11	65788061	65788061	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:65788061G>A	ENST00000312106.5	-	7	2102	c.1965C>T	c.(1963-1965)atC>atT	p.I655I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	655					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ACTGGATGATGATGTAAATTA	0.597																																						uc001ogt.2		NA																	0				ovary(2)	2						c.(1963-1965)ATC>ATT		sperm-associated cation channel 1							98.0	98.0	98.0					11																	65788061		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65788061G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1965C>T	11.37:g.65788061G>A							p.I655I	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			7	2103	-			655			Helical; Name=Segment S6; (Potential).		Q96P76	Silent	SNP	ENST00000312106.5	37	c.1965C>T	CCDS8127.1																																																																																				0.597	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		9	39	0	0	0	0	9	39				
FAM86C1	55199	broad.mit.edu	37	11	71500886	71500886	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:71500886C>A	ENST00000359244.4	+	2	177	c.154C>A	c.(154-156)Cag>Aag	p.Q52K	FAM86C1_ENST00000426628.2_Missense_Mutation_p.Q52K|FAM86C1_ENST00000346333.6_Missense_Mutation_p.Q52K	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	52										lung(1)	1						GGATATTTTGCAGAAGGTAAG	0.483																																						uc001oqv.3		NA																	0					0						c.(154-156)CAG>AAG		hypothetical protein LOC55199 isoform 1							40.0	51.0	47.0					11																	71500886		1489	2647	4136	SO:0001583	missense	55199							g.chr11:71500886C>A	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.154C>A	11.37:g.71500886C>A	ENSP00000352182:p.Gln52Lys					FAM86C_uc009ysr.2_Missense_Mutation_p.Q52K|FAM86C_uc001oqw.3_Missense_Mutation_p.Q52K|FAM86C_uc009yss.2_RNA|FAM86C_uc010rqq.1_RNA	p.Q52K	NM_018172	NP_060642	Q9NVL1	FA86C_HUMAN			2	180	+			52					Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	c.154C>A	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	10.82	1.459647	0.26248	.	.	ENSG00000158483	ENST00000346333;ENST00000359244;ENST00000426628;ENST00000528685	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	2.05	0.892	0.19230	.	.	.	.	.	T	0.20047	0.0482	N	0.25286	0.73	0.24320	N	0.995044	D;P;B	0.61697	0.99;0.593;0.039	P;P;B	0.60949	0.881;0.828;0.012	T	0.21042	-1.0257	9	0.12103	T	0.63	.	5.0265	0.14387	0.3512:0.6488:0.0:0.0	.	52;52;52	G3V0F7;Q9NVL1-2;Q9NVL1	.;.;FA86C_HUMAN	K	52	ENSP00000325662:Q52K;ENSP00000352182:Q52K;ENSP00000391329:Q52K;ENSP00000436598:Q52K	ENSP00000325662:Q52K	Q	+	1	0	FAM86C1	71178534	1.000000	0.71417	0.998000	0.56505	0.135000	0.20990	1.053000	0.30442	1.136000	0.42199	0.184000	0.17185	CAG		0.483	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		20	72	1	0	6.45e-10	1.76e-09	20	72				
C11orf87	399947	broad.mit.edu	37	11	109294892	109294892	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:109294892C>A	ENST00000327419.6	+	2	936	c.533C>A	c.(532-534)gCa>gAa	p.A178E	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	178						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGAGCACACGCAGCTTCCTCC	0.637																																						uc001pkn.2		NA																	0				ovary(2)	2						c.(532-534)GCA>GAA		hypothetical protein LOC399947 precursor							44.0	43.0	44.0					11																	109294892		2201	4298	6499	SO:0001583	missense	399947					integral to membrane		g.chr11:109294892C>A	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.533C>A	11.37:g.109294892C>A	ENSP00000331581:p.Ala178Glu					C11orf87_uc010rwb.1_RNA	p.A178E	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN			2	907	+			178			Cytoplasmic (Potential).		B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.533C>A	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	C	9.995	1.231935	0.22626	.	.	ENSG00000185742	ENST00000327419	.	.	.	3.7	2.77	0.32553	.	0.867820	0.09006	N	0.862200	T	0.21267	0.0512	N	0.08118	0	0.26449	N	0.975649	B	0.02656	0.0	B	0.08055	0.003	T	0.06552	-1.0820	9	0.02654	T	1	-0.1501	12.0359	0.53425	0.1749:0.8251:0.0:0.0	.	178	Q6NUJ2	CK087_HUMAN	E	178	.	ENSP00000331581:A178E	A	+	2	0	C11orf87	108800102	0.000000	0.05858	0.195000	0.23364	0.956000	0.61745	0.123000	0.15708	1.120000	0.41904	0.655000	0.94253	GCA		0.637	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		21	34	1	0	4.35e-09	1.17e-08	21	34				
APLP2	334	broad.mit.edu	37	11	130000002	130000002	+	Missense_Mutation	SNP	C	C	T	rs149975560		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:130000002C>T	ENST00000263574.5	+	11	1597	c.1525C>T	c.(1525-1527)Cgt>Tgt	p.R509C	APLP2_ENST00000278756.7_Missense_Mutation_p.R519C|APLP2_ENST00000528499.1_Missense_Mutation_p.R453C|APLP2_ENST00000539648.1_Missense_Mutation_p.R297C|APLP2_ENST00000345598.5_Missense_Mutation_p.R280C|APLP2_ENST00000338167.5_Missense_Mutation_p.R509C|APLP2_ENST00000543137.1_Missense_Mutation_p.R416C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	509					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ACATACCATCCGTCATTACCA	0.478																																						uc010sby.1		NA																	0				ovary(3)	3						c.(1525-1527)CGT>TGT		amyloid beta (A4) precursor-like protein 2		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4402		0,0,2201	168.0	144.0	152.0		1525,1357,838,1525	5.3	1.0	11	dbSNP_134	152	2,8592	2.2+/-6.3	0,2,4295	yes	missense,missense,missense,missense	APLP2	NM_001142276.1,NM_001142277.1,NM_001142278.1,NM_001642.2	180,180,180,180	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	509/752,453/696,280/523,509/764	130000002	2,12994	2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:130000002C>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1525C>T	11.37:g.130000002C>T	ENSP00000263574:p.Arg509Cys					APLP2_uc001qfp.2_Missense_Mutation_p.R509C|APLP2_uc001qfq.2_Missense_Mutation_p.R453C|APLP2_uc010sbz.1_Missense_Mutation_p.R297C|APLP2_uc001qfr.2_Missense_Mutation_p.R275C|APLP2_uc001qfs.2_Missense_Mutation_p.R280C|APLP2_uc001qfv.2_Missense_Mutation_p.R400C	p.R509C	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	11	1682	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	509			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1525C>T	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044322	0.93685	0.0	2.33E-4	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.33	5.33	0.75918	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.98;0.999;0.994;0.99;0.996;0.994;0.986	T	0.67593	-0.5631	10	0.87932	D	0	-15.4618	18.0139	0.89232	0.0:1.0:0.0:0.0	.	297;509;453;280;447;453;509	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	C	453;297;509;280;509;519;416	ENSP00000435914:R453C;ENSP00000443728:R297C;ENSP00000263574:R509C;ENSP00000263575:R280C;ENSP00000345444:R509C;ENSP00000278756:R519C;ENSP00000444122:R416C	ENSP00000263574:R509C	R	+	1	0	APLP2	129505212	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	4.504000	0.60414	2.506000	0.84524	0.655000	0.94253	CGT		0.478	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		24	113	0	0	0	0	24	113				
A2ML1	144568	broad.mit.edu	37	12	9021141	9021141	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:9021141G>A	ENST00000299698.7	+	32	4250	c.4070G>A	c.(4069-4071)gGg>gAg	p.G1357E	A2ML1_ENST00000539547.1_Missense_Mutation_p.G866E	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTTATGTGGGGAGCCGTAGC	0.463																																						uc001quz.3		NA																	0				ovary(2)|skin(1)	3						c.(4069-4071)GGG>GAG		alpha-2-macroglobulin-like 1 precursor							160.0	163.0	162.0					12																	9021141		2007	4172	6179	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9021141G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.4070G>A	12.37:g.9021141G>A	ENSP00000299698:p.Gly1357Glu					A2ML1_uc001qva.1_Missense_Mutation_p.G937E|A2ML1_uc010sgm.1_Missense_Mutation_p.G857E|A2ML1_uc001qvb.1_RNA	p.G1357E	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			32	4168	+			1201						Missense_Mutation	SNP	ENST00000299698.7	37	c.4070G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796397	0.70567	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.49139	0.79;0.79;0.79	3.81	3.81	0.43845	Alpha-macroglobulin, receptor-binding (2);	0.000000	0.56097	D	0.000030	T	0.72692	0.3492	M	0.89353	3.025	0.41428	D	0.98784	D	0.89917	1.0	D	0.87578	0.998	T	0.80111	-0.1519	10	0.87932	D	0	.	15.4941	0.75634	0.0:0.0:1.0:0.0	.	1357	A8K2U0	A2ML1_HUMAN	E	1357;1357;907;866	ENSP00000299698:G1357E;ENSP00000443174:G907E;ENSP00000438292:G866E	ENSP00000299698:G1357E	G	+	2	0	A2ML1	8912408	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.618000	0.74214	2.414000	0.81942	0.643000	0.83706	GGG		0.463	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		40	97	0	0	0	0	40	97				
PRB3	5544	broad.mit.edu	37	12	11422583	11422583	+	Silent	SNP	C	C	T	rs374214346		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:11422583C>T	ENST00000279573.7	-	1	156	c.21G>A	c.(19-21)tcG>tcA	p.S7S	PRB3_ENST00000538488.1_Silent_p.S7S|PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000381842.3_Silent_p.S7S			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	0					defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GCAGGGCCACCGACAGCAGAA	0.532																																						uc001qzs.2		NA																	0				skin(1)	1						c.(19-21)TCG>TCA		proline-rich protein BstNI subfamily 3		C		0,4406		0,0,2203	91.0	87.0	88.0		21	-4.6	0.0	12		88	1,8599		0,1,4299	no	coding-synonymous	PRB3	NM_006249.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		7/310	11422583	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11422583C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.21G>A	12.37:g.11422583C>T						PRB4_uc001qzf.1_Intron	p.S7S	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		1	59	-			7					Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Silent	SNP	ENST00000279573.7	37	c.21G>A																																																																																					0.532	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		18	69	0	0	0	0	18	69				
LRP6	4040	broad.mit.edu	37	12	12318022	12318022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:12318022G>A	ENST00000261349.4	-	8	1829	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	LRP6_ENST00000543091.1_Nonsense_Mutation_p.R585*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	585	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAATCACTCGATGAACATTT	0.423																																						uc001rah.3		NA																	0				lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(1753-1755)CGA>TGA		low density lipoprotein receptor-related protein							126.0	116.0	120.0					12																	12318022		2203	4300	6503	SO:0001587	stop_gained	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12318022G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1753C>T	12.37:g.12318022G>A	ENSP00000261349:p.Arg585*					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Nonsense_Mutation_p.R585*	p.R585*	NM_002336	NP_002327	O75581	LRP6_HUMAN			8	1895	-		Prostate(47;0.0865)	585			Extracellular (Potential).|Beta-propeller 2.		Q17RZ2	Nonsense_Mutation	SNP	ENST00000261349.4	37	c.1753C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473726	0.96291	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	.	.	.	5.12	2.05	0.26809	.	0.247595	0.27249	N	0.020233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.6562	0.62339	0.0:0.0:0.4449:0.5551	.	.	.	.	X	585	.	ENSP00000261349:R585X	R	-	1	2	LRP6	12209289	0.991000	0.36638	0.997000	0.53966	0.747000	0.42532	1.021000	0.30040	0.179000	0.19938	0.460000	0.39030	CGA		0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			31	91	0	0	0	0	31	91				
DENND5B	160518	broad.mit.edu	37	12	31605306	31605306	+	Silent	SNP	A	A	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:31605306A>T	ENST00000389082.5	-	5	1461	c.1197T>A	c.(1195-1197)gtT>gtA	p.V399V	DENND5B_ENST00000354285.4_Silent_p.V421V|DENND5B_ENST00000306833.6_Silent_p.V434V|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000536562.1_Silent_p.V434V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	399					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATTGAACAAGAACCTCAGAGA	0.403																																						uc001rki.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1195-1197)GTT>GTA		DENN/MADD domain containing 5B							86.0	84.0	85.0					12																	31605306		1859	4096	5955	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31605306A>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1197T>A	12.37:g.31605306A>T						DENND5B_uc001rkh.1_Silent_p.V434V|DENND5B_uc009zjq.1_Silent_p.V318V|DENND5B_uc001rkj.2_Silent_p.V421V|DENND5B_uc001rkk.1_Silent_p.V321V	p.V399V	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			5	1383	-			399					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.1197T>A	CCDS44857.1																																																																																				0.403	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		17	66	0	0	0	0	17	66				
ADAMTS20	80070	broad.mit.edu	37	12	43777495	43777495	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:43777495G>A	ENST00000389420.3	-	31	4662	c.4663C>T	c.(4663-4665)Cga>Tga	p.R1555*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1555	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1555*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CACTCCATTCGTTGATGTGAA	0.343																																						uc010skx.1		NA																	1	Substitution - Nonsense(1)	p.R1555*(1)	pancreas(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(4663-4665)CGA>TGA		a disintegrin-like and metalloprotease with							139.0	129.0	133.0					12																	43777495		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777495G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4663C>T	12.37:g.43777495G>A	ENSP00000374071:p.Arg1555*						p.R1555*	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	31	4663	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1555			TSP type-1 13.		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.4663C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	39	7.688847	0.98434	.	.	ENSG00000173157	ENST00000389420	.	.	.	4.7	-1.33	0.09172	.	1.926180	0.03342	N	0.194907	.	.	.	.	.	.	0.20196	N	0.99993	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	11.3896	0.49806	0.0:0.4591:0.329:0.2119	.	.	.	.	X	1555	.	ENSP00000374071:R1555X	R	-	1	2	ADAMTS20	42063762	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.201000	0.17276	-0.036000	0.13669	0.655000	0.94253	CGA		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		8	55	0	0	0	0	8	55				
ARID2	196528	broad.mit.edu	37	12	46245639	46245639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:46245639C>T	ENST00000334344.6	+	15	3905	c.3733C>T	c.(3733-3735)Caa>Taa	p.Q1245*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1096*|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q855*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1245					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATAATTTGCCAAAAGGAGGA	0.458			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(3733-3735)CAA>TAA		AT rich interactive domain 2 (ARID, RFX-like)							69.0	65.0	66.0					12																	46245639		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245639C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3733C>T	12.37:g.46245639C>T	ENSP00000335044:p.Gln1245*					ARID2_uc001ror.2_Nonsense_Mutation_p.Q1245*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q701*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q872*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q579*	p.Q1245*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3733	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1245					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.3733C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	43	10.441077	0.99405	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-7.1021	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	1245;362;362;1096;855	.	ENSP00000335044:Q1245X	Q	+	1	0	ARID2	44531906	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.263000	0.78421	2.941000	0.99782	0.655000	0.94253	CAA		0.458	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		14	57	0	0	0	0	14	57				
KMT2D	8085	broad.mit.edu	37	12	49420049	49420049	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:49420049C>T	ENST00000301067.7	-	48	15699	c.15700G>A	c.(15700-15702)Gag>Aag	p.E5234K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5234	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCGTTGTTCTCACCAATAGAA	0.597																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15700-15702)GAG>AAG		myeloid/lymphoid or mixed-lineage leukemia 2							63.0	66.0	65.0					12																	49420049		1981	4152	6133	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420049C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15700G>A	12.37:g.49420049C>T	ENSP00000301067:p.Glu5234Lys	HNSCC(34;0.089)					p.E5234K	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15700	-			5234			FYR N-terminal.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15700G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827247	0.50739	.	.	ENSG00000167548	ENST00000301067	D	0.82893	-1.66	5.11	4.2	0.49525	FY-rich, N-terminal subgroup (1);	0.000000	0.37261	N	0.002171	D	0.89715	0.6795	M	0.85041	2.73	0.53005	D	0.999967	D	0.58970	0.984	P	0.56612	0.802	D	0.91449	0.5180	10	0.87932	D	0	.	14.6797	0.69006	0.0:0.8534:0.1466:0.0	.	5234	O14686	MLL2_HUMAN	K	5234	ENSP00000301067:E5234K	ENSP00000301067:E5234K	E	-	1	0	MLL2	47706316	1.000000	0.71417	0.858000	0.33744	0.976000	0.68499	7.818000	0.86416	1.253000	0.44018	0.650000	0.86243	GAG		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			25	65	0	0	0	0	25	65				
ACVR1B	91	broad.mit.edu	37	12	52369156	52369156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:52369156C>T	ENST00000257963.4	+	2	276	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	ACVR1B_ENST00000542485.1_Missense_Mutation_p.R15C|ACVR1B_ENST00000415850.2_Missense_Mutation_p.R67C|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R67C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R67C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	67					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCACCATGTGCGCACCTGCAT	0.592																																						uc001rzn.2		NA																	0				pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(199-201)CGC>TGC		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						114.0	90.0	98.0					12																	52369156		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52369156C>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.199C>T	12.37:g.52369156C>T	ENSP00000257963:p.Arg67Cys					ACVR1B_uc001rzl.2_Missense_Mutation_p.R67C|ACVR1B_uc001rzm.2_Missense_Mutation_p.R67C|ACVR1B_uc010snn.1_Missense_Mutation_p.R67C	p.R67C	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	2	241	+			67			Extracellular (Potential).		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.199C>T	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195035	0.94960	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000536420;ENST00000415850;ENST00000542485	D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.03	5.03	0.67393	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.98570	0.9522	M	0.78801	2.425	0.80722	D	1	P;D;D;P	0.89917	0.785;0.998;1.0;0.939	B;D;D;B	0.67900	0.325;0.93;0.954;0.347	D	0.99236	1.0883	10	0.62326	D	0.03	.	19.2461	0.93902	0.0:1.0:0.0:0.0	.	67;67;67;67	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	C	67;67;67;15;67;15	ENSP00000257963:R67C;ENSP00000442656:R67C;ENSP00000390477:R67C;ENSP00000443218:R15C;ENSP00000397550:R67C;ENSP00000442885:R15C	ENSP00000257963:R67C	R	+	1	0	ACVR1B	50655423	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.764000	0.55264	2.723000	0.93209	0.650000	0.86243	CGC		0.592	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		18	46	0	0	0	0	18	46				
HOXC11	3227	broad.mit.edu	37	12	54367367	54367367	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:54367367C>A	ENST00000546378.1	+	1	458	c.342C>A	c.(340-342)ctC>ctA	p.L114L	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Silent_p.L114L			O43248	HXC11_HUMAN	homeobox C11	114					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			large_intestine(1)|ovary(1)	2						CCGAGATCCTCATGAAAAACG	0.637			T	NUP98	AML																																	uc001sem.2		NA		Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				ovary(1)	1						c.(340-342)CTC>CTA		homeobox C11							98.0	117.0	110.0					12																	54367367		2203	4300	6503	SO:0001819	synonymous_variant	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367367C>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.342C>A	12.37:g.54367367C>A							p.L114L	NM_014212	NP_055027	O43248	HXC11_HUMAN			1	458	+			114					A8K7D1|Q96DH2	Silent	SNP	ENST00000546378.1	37	c.342C>A	CCDS8867.1																																																																																				0.637	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			54	193	1	0	2.48e-22	6.94e-22	54	193				
TESPA1	9840	broad.mit.edu	37	12	55356756	55356756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:55356756C>T	ENST00000449076.1	-	9	1058	c.926G>A	c.(925-927)aGg>aAg	p.R309K	TESPA1_ENST00000531122.1_Missense_Mutation_p.R171K|TESPA1_ENST00000316577.8_Missense_Mutation_p.R309K|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_Missense_Mutation_p.R171K|TESPA1_ENST00000524622.1_Missense_Mutation_p.R171K	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	309					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CAAACTGTTCCTTTTGGGGGT	0.532																																						uc001sgn.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(925-927)AGG>AAG		hypothetical protein LOC9840							66.0	67.0	67.0					12																	55356756		1926	4114	6040	SO:0001583	missense	9840							g.chr12:55356756C>T	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.926G>A	12.37:g.55356756C>T	ENSP00000400892:p.Arg309Lys					KIAA0748_uc001sgl.3_Missense_Mutation_p.R171K|KIAA0748_uc001sgm.3_Missense_Mutation_p.R56K|KIAA0748_uc010spb.1_Missense_Mutation_p.R56K|KIAA0748_uc010spc.1_Missense_Mutation_p.R171K|KIAA0748_uc010spd.1_Missense_Mutation_p.R309K|KIAA0748_uc001sgo.3_RNA	p.R309K	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN			9	1036	-			309					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.926G>A	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	C	8.248	0.808313	0.16467	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.49	-0.611	0.11601	.	0.471570	0.20106	N	0.099137	T	0.35913	0.0948	N	0.14661	0.345	0.19300	N	0.999976	B	0.09022	0.002	B	0.14023	0.01	T	0.24368	-1.0162	10	0.07990	T	0.79	-13.0381	9.4707	0.38839	0.0:0.5897:0.0:0.4103	.	309	A2RU30	K0748_HUMAN	K	171;171;309;309;171	ENSP00000435622:R171K;ENSP00000432030:R171K;ENSP00000400892:R309K;ENSP00000312679:R309K;ENSP00000433098:R171K	ENSP00000312679:R309K	R	-	2	0	KIAA0748	53643023	0.013000	0.17824	0.874000	0.34290	0.256000	0.26092	-0.152000	0.10159	-0.094000	0.12374	-0.940000	0.02684	AGG		0.532	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		15	46	0	0	0	0	15	46				
DPY19L2	283417	broad.mit.edu	37	12	63964555	63964555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:63964555G>T	ENST00000324472.4	-	20	2166	c.1983C>A	c.(1981-1983)taC>taA	p.Y661*	DPY19L2_ENST00000413230.2_Nonsense_Mutation_p.Y108*	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	661					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTGCATCTTCGTAATGTGGAT	0.418																																						uc001srp.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1981-1983)TAC>TAA		dpy-19-like 2							96.0	78.0	84.0					12																	63964555		2203	4300	6503	SO:0001587	stop_gained	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63964555G>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1983C>A	12.37:g.63964555G>T	ENSP00000315988:p.Tyr661*					DPY19L2_uc010sso.1_Nonsense_Mutation_p.Y108*	p.Y661*	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	20	2164	-			661					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Nonsense_Mutation	SNP	ENST00000324472.4	37	c.1983C>A	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436195	0.83885	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	.	.	.	3.3	-4.99	0.03010	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6388	0.45582	0.4907:0.0:0.5093:0.0	.	.	.	.	X	661;108	.	.	Y	-	3	2	DPY19L2	62250822	0.788000	0.28762	0.703000	0.30354	0.305000	0.27757	-0.083000	0.11286	-1.212000	0.02620	0.195000	0.17529	TAC		0.418	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		18	89	1	0	1.34e-09	3.62e-09	18	89				
ZFC3H1	196441	broad.mit.edu	37	12	72005625	72005625	+	Silent	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:72005625C>G	ENST00000378743.3	-	32	6028	c.5670G>C	c.(5668-5670)ctG>ctC	p.L1890L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1890					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTGAAGTTTCAGAATCTGAA	0.363																																						uc001swo.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(5668-5670)CTG>CTC		proline/serine-rich coiled-coil 2							180.0	162.0	168.0					12																	72005625		1866	4106	5972	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72005625C>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5670G>C	12.37:g.72005625C>G							p.L1890L	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			32	6029	-			1890					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.5670G>C	CCDS41813.1																																																																																				0.363	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		12	45	0	0	0	0	12	45				
ALX1	8092	broad.mit.edu	37	12	85695240	85695240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:85695240C>T	ENST00000316824.3	+	4	1123	c.968C>T	c.(967-969)tCa>tTa	p.S323L		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	323					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCAATATTTCATGGGCCATG	0.368																																						uc001tae.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(967-969)TCA>TTA		cartilage paired-class homeoprotein 1							77.0	74.0	75.0					12																	85695240		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85695240C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.968C>T	12.37:g.85695240C>T	ENSP00000315417:p.Ser323Leu						p.S323L	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	4	972	+			323					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.968C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353508	0.82243	.	.	ENSG00000180318	ENST00000316824	D	0.95622	-3.76	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94840	0.8333	L	0.27053	0.805	0.80722	D	1	D	0.58268	0.982	P	0.52454	0.699	D	0.94916	0.8069	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	323	Q15699	ALX1_HUMAN	L	323	ENSP00000315417:S323L	ENSP00000315417:S323L	S	+	2	0	ALX1	84219371	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	TCA		0.368	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		16	50	0	0	0	0	16	50				
ANKRD13A	88455	broad.mit.edu	37	12	110474131	110474131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:110474131G>C	ENST00000261739.4	+	14	1741	c.1575G>C	c.(1573-1575)gaG>gaC	p.E525D	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	525						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CCCAGTATGAGAGGTGATTGA	0.517																																						uc001tpx.2		NA																	0					0						c.(1573-1575)GAG>GAC		ankyrin repeat domain 13							193.0	171.0	179.0					12																	110474131		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110474131G>C	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.1575G>C	12.37:g.110474131G>C	ENSP00000261739:p.Glu525Asp					ANKRD13A_uc010sxw.1_Missense_Mutation_p.E524D|ANKRD13A_uc001tpy.2_Missense_Mutation_p.E125D|ANKRD13A_uc001tpz.2_Missense_Mutation_p.E163D|ANKRD13A_uc001tqa.2_3'UTR	p.E525D	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN			14	1834	+			525			UIM 1.		O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.1575G>C	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572084	0.28092	.	.	ENSG00000076513	ENST00000261738;ENST00000261739;ENST00000553251;ENST00000549826;ENST00000551491	T	0.58940	0.3	5.76	3.63	0.41609	Ubiquitin interacting motif (2);	0.356990	0.31507	N	0.007524	T	0.46249	0.1383	L	0.41492	1.28	0.80722	D	1	B;B;B	0.27791	0.0;0.0;0.189	B;B;B	0.27608	0.0;0.0;0.081	T	0.49808	-0.8900	10	0.66056	D	0.02	-8.7187	8.9246	0.35632	0.1937:0.0:0.8063:0.0	.	524;271;525	B4DYP5;E9PGV0;Q8IZ07	.;.;AN13A_HUMAN	D	271;525;163;163;52	ENSP00000261739:E525D	ENSP00000261738:E271D	E	+	3	2	ANKRD13A	108958514	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	1.368000	0.34216	1.456000	0.47831	-0.142000	0.14014	GAG		0.517	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		28	105	0	0	0	0	28	105				
KDM2B	84678	broad.mit.edu	37	12	121947475	121947475	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:121947475C>T	ENST00000377071.4	-	11	1614	c.1542G>A	c.(1540-1542)ctG>ctA	p.L514L	KDM2B_ENST00000536437.1_Silent_p.L397L|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377069.4_Silent_p.L483L|KDM2B_ENST00000538046.2_Silent_p.L424L	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	514					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCAGGCCCTTCAGTTCAAACT	0.597																																						uc001uat.2		NA																	0				ovary(1)|skin(1)	2						c.(1540-1542)CTG>CTA		F-box and leucine-rich repeat protein 10 isoform							70.0	73.0	72.0					12																	121947475		1902	4117	6019	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121947475C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1542G>A	12.37:g.121947475C>T						KDM2B_uc001uar.2_Silent_p.L105L|KDM2B_uc001uas.2_Silent_p.L483L|KDM2B_uc001uau.2_Silent_p.L397L|KDM2B_uc001uav.3_Silent_p.L424L	p.L514L	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			11	1646	-			514					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.1542G>A	CCDS41850.1																																																																																				0.597	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		16	59	0	0	0	0	16	59				
MMP17	4326	broad.mit.edu	37	12	132326314	132326314	+	Silent	SNP	C	C	T	rs73162905	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:132326314C>T	ENST00000360564.1	+	5	954	c.852C>T	c.(850-852)taC>taT	p.Y284Y	MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Silent_p.Y200Y	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	284					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	GGCTCCCCTACGAGGACAAGG	0.662													C|||	8	0.00159744	0.0061	0.0	5008	,	,		17054	0.0		0.0	False		,,,				2504	0.0					uc001ujc.1		NA																	0					0						c.(850-852)TAC>TAT		matrix metalloproteinase 17 preproprotein		C		18,4384	27.2+/-55.0	0,18,2183	43.0	37.0	39.0		852	-8.3	0.2	12	dbSNP_130	39	9,8591	5.0+/-18.6	0,9,4291	no	coding-synonymous	MMP17	NM_016155.4		0,27,6474	TT,TC,CC		0.1047,0.4089,0.2077		284/604	132326314	27,12975	2201	4300	6501	SO:0001819	synonymous_variant	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132326314C>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.852C>T	12.37:g.132326314C>T						MMP17_uc001ujd.1_Silent_p.Y200Y	p.Y284Y	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	5	951	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		284					Q14850	Silent	SNP	ENST00000360564.1	37	c.852C>T	CCDS31927.1																																																																																				0.662	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		8	14	0	0	0	0	8	14				
ULK1	8408	broad.mit.edu	37	12	132401500	132401500	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:132401500C>T	ENST00000321867.4	+	21	2426	c.2075C>T	c.(2074-2076)tCt>tTt	p.S692F	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	692					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TCCCACAGGTCTTTCAGCACC	0.657																																						uc001uje.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2074-2076)TCT>TTT		Unc-51-like kinase 1							26.0	31.0	29.0					12																	132401500		2189	4286	6475	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132401500C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2075C>T	12.37:g.132401500C>T	ENSP00000324560:p.Ser692Phe						p.S692F	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	21	2343	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		692					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.2075C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.139888	0.77775	.	.	ENSG00000177169	ENST00000321867;ENST00000541761	T;T	0.46063	0.88;0.88	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72060	-0.4404	10	0.87932	D	0	-50.7779	18.7962	0.91995	0.0:1.0:0.0:0.0	.	692	O75385	ULK1_HUMAN	F	692;40	ENSP00000324560:S692F;ENSP00000444298:S40F	ENSP00000324560:S692F	S	+	2	0	ULK1	130967453	1.000000	0.71417	0.998000	0.56505	0.365000	0.29674	7.101000	0.76997	2.509000	0.84616	0.556000	0.70494	TCT		0.657	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			5	44	0	0	0	0	5	44				
KCTD4	386618	broad.mit.edu	37	13	45768657	45768657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:45768657C>T	ENST00000379108.1	-	1	195	c.46G>A	c.(46-48)Ggg>Agg	p.G16R	KCTD4_ENST00000405872.1_Missense_Mutation_p.G16R|GTF2F2_ENST00000340473.6_Intron			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	16					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTGTGTTTCCCTTCATACTCC	0.353																																						uc001uzx.3		NA																	0					0						c.(46-48)GGG>AGG		potassium channel tetramerisation domain							260.0	242.0	248.0					13																	45768657		2203	4300	6503	SO:0001583	missense	386618					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr13:45768657C>T	BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.46G>A	13.37:g.45768657C>T	ENSP00000368402:p.Gly16Arg					GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	p.G16R	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)	2	450	-		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	16					Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	c.46G>A	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518445	0.44763	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.52526	0.66;0.66	5.5	5.5	0.81552	.	0.116163	0.64402	D	0.000013	T	0.32194	0.0821	N	0.14661	0.345	0.38210	D	0.94044	B	0.18968	0.032	B	0.08055	0.003	T	0.17289	-1.0374	10	0.13470	T	0.59	.	18.7503	0.91812	0.0:1.0:0.0:0.0	.	16	Q8WVF5	KCTD4_HUMAN	R	16	ENSP00000368402:G16R;ENSP00000385144:G16R	ENSP00000368402:G16R	G	-	1	0	KCTD4	44666657	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	2.954000	0.49113	2.749000	0.94314	0.585000	0.79938	GGG		0.353	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1			40	121	0	0	0	0	40	121				
CPB2	1361	broad.mit.edu	37	13	46632457	46632457	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:46632457C>G	ENST00000181383.4	-	9	872	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.E249Q|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	286					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ACTTCTGGTTCTGACTCAGGA	0.428																																						uc001vaw.2		NA																	0				ovary(1)|skin(1)	2						c.(856-858)GAA>CAA		plasma carboxypeptidase B2 isoform a							173.0	155.0	161.0					13																	46632457		2203	4300	6503	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46632457C>G	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.856G>C	13.37:g.46632457C>G	ENSP00000181383:p.Glu286Gln					uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.E249Q	p.E286Q	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	9	923	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	286					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.856G>C	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875960	0.91664	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.13538	2.58;2.58	5.86	5.86	0.93980	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.60250	-0.7300	10	0.87932	D	0	.	19.1654	0.93555	0.0:1.0:0.0:0.0	.	249;286	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	Q	286;249	ENSP00000181383:E286Q;ENSP00000400714:E249Q	ENSP00000181383:E286Q	E	-	1	0	CPB2	45530458	1.000000	0.71417	0.939000	0.37840	0.858000	0.48976	7.280000	0.78610	2.778000	0.95560	0.655000	0.94253	GAA		0.428	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		16	91	0	0	0	0	16	91				
CLDN10	9071	broad.mit.edu	37	13	96205036	96205036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:96205036C>T	ENST00000299339.2	+	1	58	c.29C>T	c.(28-30)gCc>gTc	p.A10V	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	10					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GAGATCATCGCCTTCATGGTC	0.672																																						uc001vmh.2		NA																	0				ovary(1)	1						c.(28-30)GCC>GTC		claudin 10 isoform b							53.0	49.0	50.0					13																	96205036		2203	4299	6502	SO:0001583	missense	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96205036C>T	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.29C>T	13.37:g.96205036C>T	ENSP00000299339:p.Ala10Val					CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron	p.A10V	NM_006984	NP_008915	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		1	90	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		10			Helical; (Potential).		Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000299339.2	37	c.29C>T	CCDS9476.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061066	0.93846	.	.	ENSG00000134873	ENST00000299339	D	0.88586	-2.4	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.94964	0.8371	M	0.90369	3.11	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.96170	0.9122	10	0.87932	D	0	.	15.423	0.75028	0.0:1.0:0.0:0.0	.	10	P78369	CLD10_HUMAN	V	10	ENSP00000299339:A10V	ENSP00000299339:A10V	A	+	2	0	CLDN10	95003037	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.078000	0.76821	1.919000	0.55581	0.305000	0.20034	GCC		0.672	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1	NM_006984		13	18	0	0	0	0	13	18				
PCK2	5106	broad.mit.edu	37	14	24566131	24566131	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:24566131C>A	ENST00000216780.4	+	2	328	c.60C>A	c.(58-60)ggC>ggA	p.G20G	PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000396973.4_Silent_p.G20G|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000561286.1_Intron|NRL_ENST00000396997.1_5'Flank|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Silent_p.G32G	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	20					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GCCCCTTGGGCTGGCCATCAT	0.567																																						uc001wlt.2		NA																	0				ovary(1)	1						c.(58-60)GGC>GGA		mitochondrial phosphoenolpyruvate carboxykinase							101.0	89.0	93.0					14																	24566131		2203	4300	6503	SO:0001819	synonymous_variant	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24566131C>A	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.60C>A	14.37:g.24566131C>A						NRL_uc001wlp.2_5'Flank|NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Silent_p.G32G|PCK2_uc001wls.2_Silent_p.G20G|PCK2_uc010tnw.1_Intron|PCK2_uc010ald.2_Translation_Start_Site|PCK2_uc010ale.2_Translation_Start_Site|PCK2_uc010tnx.1_Translation_Start_Site|PCK2_uc001wlu.3_Translation_Start_Site	p.G20G	NM_004563	NP_004554	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	2	192	+			20					O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	c.60C>A	CCDS9609.1																																																																																				0.567	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		28	115	1	0	2.8e-10	7.63e-10	28	115				
NFATC4	4776	broad.mit.edu	37	14	24845916	24845916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:24845916C>T	ENST00000250373.4	+	9	2614	c.2473C>T	c.(2473-2475)Ccc>Tcc	p.P825S	NFATC4_ENST00000556759.1_Missense_Mutation_p.P360S|NFATC4_ENST00000555167.1_Missense_Mutation_p.P360S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P755S|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.P113S|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000555453.1_Missense_Mutation_p.P813S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P813S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P825S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P755S|NFATC4_ENST00000555393.1_Missense_Mutation_p.P113S|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000553879.1_Missense_Mutation_p.P755S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P838S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P838S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P857S|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000556279.1_Missense_Mutation_p.P857S|NFATC4_ENST00000413692.2_Missense_Mutation_p.P888S	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	825	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCTTGAAGGCCCCTTCCCTTC	0.642																																						uc001wpc.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2473-2475)CCC>TCC		nuclear factor of activated T-cells,							77.0	88.0	84.0					14																	24845916		2203	4299	6502	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24845916C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2473C>T	14.37:g.24845916C>T	ENSP00000250373:p.Pro825Ser					NFATC4_uc010tok.1_Missense_Mutation_p.P888S|NFATC4_uc010tol.1_Missense_Mutation_p.P888S|NFATC4_uc010alr.2_Intron|NFATC4_uc010tom.1_Missense_Mutation_p.P838S|NFATC4_uc010ton.1_Missense_Mutation_p.P838S|NFATC4_uc010too.1_Intron|NFATC4_uc010alt.2_Missense_Mutation_p.P857S|NFATC4_uc010top.1_Missense_Mutation_p.P857S|NFATC4_uc010toq.1_Intron|NFATC4_uc010tor.1_Intron|NFATC4_uc010tos.1_Missense_Mutation_p.P755S|NFATC4_uc010tot.1_Missense_Mutation_p.P813S|NFATC4_uc010tou.1_Missense_Mutation_p.P755S|NFATC4_uc010tov.1_Intron|NFATC4_uc010tow.1_Intron|NFATC4_uc010alv.2_Missense_Mutation_p.P813S|NFATC4_uc010tox.1_Missense_Mutation_p.P755S|NFATC4_uc001wpd.2_Missense_Mutation_p.P360S|NFATC4_uc010toy.1_Intron|NFATC4_uc010toz.1_Missense_Mutation_p.P360S|NFATC4_uc010tpa.1_Missense_Mutation_p.P113S|NFATC4_uc010tpb.1_Missense_Mutation_p.P113S	p.P825S	NM_004554	NP_004545	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	9	2794	+			825			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.2473C>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531651	0.64972	.	.	ENSG00000100968	ENST00000413692;ENST00000555590;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000556759;ENST00000555167;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62364	3.08;3.0;3.08;3.06;3.03;3.02;3.14;2.7;2.7;2.77;2.79;2.66;1.33;1.32;0.23;0.03	5.53	4.64	0.57946	.	0.110776	0.41396	N	0.000887	T	0.42810	0.1219	N	0.14661	0.345	0.38557	D	0.949591	B;B;B;B;B;B;B;B;B	0.19331	0.035;0.035;0.035;0.035;0.035;0.035;0.035;0.035;0.02	B;B;B;B;B;B;B;B;B	0.17722	0.009;0.019;0.013;0.019;0.019;0.019;0.013;0.019;0.006	T	0.35992	-0.9766	10	0.31617	T	0.26	-6.7824	10.207	0.43118	0.0:0.908:0.0:0.092	.	813;857;838;838;888;888;813;857;825	Q14934-9;Q14934-4;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934	.;.;.;.;.;.;.;.;NFAC4_HUMAN	S	888;838;838;857;857;825;825;755;755;755;813;813;360;360;113;113	ENSP00000388910:P888S;ENSP00000451224:P838S;ENSP00000388668:P838S;ENSP00000439350:P857S;ENSP00000452270:P857S;ENSP00000250373:P825S;ENSP00000450590:P825S;ENSP00000452349:P755S;ENSP00000450469:P755S;ENSP00000451284:P755S;ENSP00000396788:P813S;ENSP00000450686:P813S;ENSP00000451183:P360S;ENSP00000451395:P360S;ENSP00000451801:P113S;ENSP00000451590:P113S	ENSP00000250373:P825S	P	+	1	0	NFATC4	23915756	0.834000	0.29399	1.000000	0.80357	0.870000	0.49936	3.318000	0.51975	1.329000	0.45376	0.561000	0.74099	CCC		0.642	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		40	181	0	0	0	0	40	181				
NFKBIA	4792	broad.mit.edu	37	14	35872923	35872923	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:35872923G>A	ENST00000216797.5	-	2	410	c.309C>T	c.(307-309)ttC>ttT	p.F103F	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_Silent_p.F13F|NFKBIA_ENST00000557140.1_Silent_p.F103F	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	103					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	GGAAGTTGAGGAAGGCCAGGT	0.582																																						uc001wtf.3		NA																	0				breast(2)	2						c.(307-309)TTC>TTT		nuclear factor of kappa light polypeptide gene							80.0	67.0	71.0					14																	35872923		2203	4300	6503	SO:0001819	synonymous_variant	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35872923G>A		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.309C>T	14.37:g.35872923G>A						NFKBIA_uc001wte.3_Silent_p.F13F|NFKBIA_uc001wtg.3_Silent_p.F103F|NFKBIA_uc010amo.2_Intron	p.F103F	NM_020529	NP_065390	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	2	419	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		103			ANK 1.		B2R8L6	Silent	SNP	ENST00000216797.5	37	c.309C>T	CCDS9656.1																																																																																				0.582	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		6	28	0	0	0	0	6	28				
FSCB	84075	broad.mit.edu	37	14	44975031	44975031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:44975031G>A	ENST00000340446.4	-	1	1451	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	387	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.P387L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTGTGCTGAGGGAGACCGAAT	0.527																																						uc001wvn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1159-1161)CCC>CTC		fibrous sheath CABYR binding protein							79.0	90.0	86.0					14																	44975031		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975031G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1160C>T	14.37:g.44975031G>A	ENSP00000344579:p.Pro387Leu						p.P387L	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1469	-			387			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1160C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286651	0.23478	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15952	2.38	4.43	2.43	0.29744	.	.	.	.	.	T	0.26268	0.0641	L	0.46157	1.445	0.09310	N	1	D	0.67145	0.996	P	0.62014	0.897	T	0.06285	-1.0835	9	0.41790	T	0.15	.	5.673	0.17733	0.1106:0.1998:0.6895:0.0	.	387	Q5H9T9	FSCB_HUMAN	L	387	ENSP00000344579:P387L	ENSP00000344579:P387L	P	-	2	0	FSCB	44044781	0.396000	0.25262	0.002000	0.10522	0.005000	0.04900	2.231000	0.43009	1.007000	0.39238	0.650000	0.86243	CCC		0.527	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		33	111	0	0	0	0	33	111				
SLC8A3	6547	broad.mit.edu	37	14	70634140	70634140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:70634140G>A	ENST00000381269.2	-	2	1753	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.Q334*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	334					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCACCAGCTGATCTAAGTCC	0.522																																						uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1000-1002)CAG>TAG		solute carrier family 8 (sodium/calcium							100.0	103.0	102.0					14																	70634140		2203	4300	6503	SO:0001587	stop_gained	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634140G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1000C>T	14.37:g.70634140G>A	ENSP00000370669:p.Gln334*					SLC8A3_uc001xlw.2_Nonsense_Mutation_p.Q334*|SLC8A3_uc001xlx.2_Nonsense_Mutation_p.Q334*|SLC8A3_uc001xlz.2_Nonsense_Mutation_p.Q334*|SLC8A3_uc010ara.2_RNA	p.Q334*	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1754	-			334			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Nonsense_Mutation	SNP	ENST00000381269.2	37	c.1000C>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	38	6.804880	0.97853	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	.	.	.	X	334	.	ENSP00000349392:Q334X	Q	-	1	0	SLC8A3	69703893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.753000	0.94483	0.655000	0.94253	CAG		0.522	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			25	61	0	0	0	0	25	61				
SERPINA4	5267	broad.mit.edu	37	14	95035800	95035800	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:95035800G>A	ENST00000557004.1	+	5	1573	c.1152G>A	c.(1150-1152)gcG>gcA	p.A384A	SERPINA4_ENST00000298841.5_Silent_p.A384A|SERPINA4_ENST00000555095.1_Silent_p.A384A|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	384					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAGCTTCGCGATCAAATTCT	0.547																																						uc001ydk.2		NA																	0				ovary(3)|skin(1)	4						c.(1150-1152)GCG>GCA		serine (or cysteine) proteinase inhibitor, clade							86.0	67.0	73.0					14																	95035800		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95035800G>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1152G>A	14.37:g.95035800G>A						SERPINA4_uc010avd.2_Silent_p.A421A|SERPINA4_uc001ydl.2_Silent_p.A384A	p.A384A	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1218	+			384					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.1152G>A	CCDS9927.1																																																																																				0.547	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		24	52	0	0	0	0	24	52				
KLC1	3831	broad.mit.edu	37	14	104142025	104142025	+	Splice_Site	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:104142025G>A	ENST00000348520.6	+	11	1630		c.e11-1		KLC1_ENST00000555836.1_Splice_Site|KLC1_ENST00000554280.1_Splice_Site|KLC1_ENST00000557575.1_Splice_Site|KLC1_ENST00000553286.1_Splice_Site|KLC1_ENST00000246489.7_Splice_Site|KLC1_ENST00000334553.6_Splice_Site|KLC1_ENST00000389744.4_Splice_Site|KLC1_ENST00000380038.3_Splice_Site|KLC1_ENST00000557450.1_Splice_Site|RP11-73M18.2_ENST00000472726.2_Splice_Site|KLC1_ENST00000347839.6_Splice_Site|KLC1_ENST00000452929.2_Splice_Site|KLC1_ENST00000445352.4_Splice_Site	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TTATAATTTAGGGAAAGCAAA	0.328																																						uc001yno.2		NA																	0					0						c.e11-1		kinesin light chain 1 isoform 2							63.0	68.0	66.0					14																	104142025		2201	4299	6500	SO:0001630	splice_region_variant	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104142025G>A	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1312-1G>A	14.37:g.104142025G>A						KLC1_uc010tyd.1_Splice_Site_p.G597_splice|KLC1_uc010tye.1_Splice_Site_p.G434_splice|KLC1_uc001ynm.1_Splice_Site_p.G438_splice|KLC1_uc001ynn.1_Splice_Site_p.G432_splice|KLC1_uc010tyf.1_Splice_Site_p.G438_splice|KLC1_uc001ynp.1_5'Flank|KLC1_uc001ynr.1_5'Flank|KLC1_uc010awu.1_5'Flank|KLC1_uc001ynq.1_5'Flank|KLC1_uc001yns.2_5'Flank	p.G438_splice	NM_182923	NP_891553	Q07866	KLC1_HUMAN			11	1620	+		Melanoma(154;0.155)|all_epithelial(191;0.19)						A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Splice_Site	SNP	ENST00000348520.6	37	c.1312_splice	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628326	0.67015	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000537046;ENST00000553325;ENST00000553436;ENST00000555856;ENST00000472726	.	.	.	5.26	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4902	0.61390	0.0749:0.0:0.9251:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLC1;RP11-73M18.2	103211778	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	9.787000	0.99055	1.219000	0.43474	0.655000	0.94253	.		0.328	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552	Intron	9	39	0	0	0	0	9	39				
PACS2	23241	broad.mit.edu	37	14	105843172	105843172	+	Missense_Mutation	SNP	A	A	T	rs373196528		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:105843172A>T	ENST00000325438.8	+	9	1373	c.869A>T	c.(868-870)tAt>tTt	p.Y290F	PACS2_ENST00000458164.2_Missense_Mutation_p.Y290F|PACS2_ENST00000447393.1_Missense_Mutation_p.Y290F|PACS2_ENST00000430725.2_Missense_Mutation_p.Y215F|PACS2_ENST00000547217.1_Missense_Mutation_p.Y260F			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	290					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GACCTCCTGTATGACACCCTG	0.667																																						uc001yqt.2		NA																	0				pancreas(1)	1						c.(868-870)TAT>TTT		phosphofurin acidic cluster sorting protein 2							81.0	70.0	74.0					14																	105843172		2202	4300	6502	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105843172A>T	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.869A>T	14.37:g.105843172A>T	ENSP00000321834:p.Tyr290Phe					PACS2_uc001yqs.2_Missense_Mutation_p.Y215F|PACS2_uc001yqv.2_Missense_Mutation_p.Y290F|PACS2_uc001yqu.2_Missense_Mutation_p.Y290F	p.Y290F	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	9	1044	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	290					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.869A>T	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.620095	0.46736	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.8	4.8	0.61643	.	0.145674	0.48767	D	0.000175	T	0.11110	0.0271	N	0.21324	0.655	0.46521	D	0.999082	B;B;B;B	0.32467	0.132;0.058;0.045;0.372	B;B;B;B	0.30855	0.05;0.106;0.017;0.121	T	0.16394	-1.0404	10	0.13470	T	0.59	-0.8212	13.1551	0.59511	1.0:0.0:0.0:0.0	.	290;290;290;291	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	F	215;290;290;290;260	ENSP00000393524:Y215F;ENSP00000321834:Y290F;ENSP00000399732:Y290F;ENSP00000393559:Y290F;ENSP00000449525:Y260F	ENSP00000321834:Y290F	Y	+	2	0	PACS2	104914217	1.000000	0.71417	0.975000	0.42487	0.689000	0.40095	5.639000	0.67868	1.785000	0.52413	0.383000	0.25322	TAT		0.667	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		23	38	0	0	0	0	23	38				
RYR3	6263	broad.mit.edu	37	15	34105687	34105687	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:34105687C>T	ENST00000389232.4	+	74	10479	c.10409C>T	c.(10408-10410)tCc>tTc	p.S3470F	RYR3_ENST00000415757.3_Missense_Mutation_p.S3465F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3470	Interaction with CALM. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTTTGAGGTCCAAGAAGGCC	0.532																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(10408-10410)TCC>TTC		ryanodine receptor 3							120.0	117.0	118.0					15																	34105687		1941	4132	6073	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34105687C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10409C>T	15.37:g.34105687C>T	ENSP00000373884:p.Ser3470Phe					RYR3_uc010bar.2_Missense_Mutation_p.S3465F	p.S3470F	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	74	10479	+		all_lung(180;7.18e-09)	3470					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10409C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596438	0.66332	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.97016	-4.21	4.83	4.83	0.62350	.	0.316608	0.29225	N	0.012776	D	0.97259	0.9104	L	0.53561	1.675	0.41648	D	0.989118	D;D	0.67145	0.986;0.996	P;D	0.67231	0.742;0.95	D	0.97492	1.0054	10	0.49607	T	0.09	.	18.1303	0.89599	0.0:1.0:0.0:0.0	.	3465;3470	Q15413-2;Q15413	.;RYR3_HUMAN	F	3470;3470;3465	ENSP00000373884:S3470F	ENSP00000354735:S3465F	S	+	2	0	RYR3	31892979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.853000	0.48317	2.511000	0.84671	0.655000	0.94253	TCC		0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			29	113	0	0	0	0	29	113				
NUTM1	256646	broad.mit.edu	37	15	34649146	34649146	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:34649146G>A	ENST00000333756.4	+	7	3008	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	NUTM1_ENST00000438749.3_Silent_p.E969E|NUTM1_ENST00000537011.1_Silent_p.E979E	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	951						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTTTACAAGAGAGTCAGGAGT	0.502																																						uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(2851-2853)GAG>GAA		nuclear protein in testis							63.0	58.0	59.0					15																	34649146		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34649146G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2853G>A	15.37:g.34649146G>A						C15orf55_uc010ucc.1_Silent_p.E979E|C15orf55_uc010ucd.1_Silent_p.E969E	p.E951E	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	3008	+		all_lung(180;2.78e-08)	951					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.2853G>A	CCDS32190.1																																																																																				0.502	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		9	56	0	0	0	0	9	56				
ACTC1	70	broad.mit.edu	37	15	35082673	35082673	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:35082673C>G	ENST00000290378.4	-	7	1729	c.1074G>C	c.(1072-1074)tgG>tgC	p.W358C	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000558707.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	358					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTTGCTAATCCACATTTGCT	0.502																																						uc001ziu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1072-1074)TGG>TGC		cardiac muscle alpha actin 1 proprotein							143.0	131.0	135.0					15																	35082673		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35082673C>G	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.1074G>C	15.37:g.35082673C>G	ENSP00000290378:p.Trp358Cys					uc001zit.1_Intron	p.W358C	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	7	1317	-		all_lung(180;2.3e-08)	358					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.1074G>C	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245789	0.59103	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.95447	-3.71	4.92	4.92	0.64577	Actin, conserved site (1);	0.000000	0.53938	U	0.000054	D	0.97923	0.9317	M	0.85945	2.785	0.80722	D	1	D	0.60160	0.987	D	0.85130	0.997	D	0.98572	1.0646	10	0.87932	D	0	.	18.6768	0.91531	0.0:1.0:0.0:0.0	.	358	P68032	ACTC_HUMAN	C	358;323	ENSP00000290378:W358C	ENSP00000290378:W358C	W	-	3	0	ACTC1	32869965	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.647000	0.83462	2.700000	0.92200	0.563000	0.77884	TGG		0.502	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		41	91	0	0	0	0	41	91				
MAP1A	4130	broad.mit.edu	37	15	43819190	43819190	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:43819190C>A	ENST00000300231.5	+	4	5969	c.5519C>A	c.(5518-5520)gCt>gAt	p.A1840D	MAP1A_ENST00000399453.1_Missense_Mutation_p.A1840D|MAP1A_ENST00000382031.1_Missense_Mutation_p.A2078D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1840					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCATGGCTGGCTGACATCCCA	0.612																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(5518-5520)GCT>GAT		microtubule-associated protein 1A	Estramustine(DB01196)						63.0	63.0	63.0					15																	43819190		1945	4142	6087	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819190C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5519C>A	15.37:g.43819190C>A	ENSP00000300231:p.Ala1840Asp						p.A1840D	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	5986	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1840					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5519C>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079271	0.36662	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02916	4.11;4.11;4.11	4.59	4.59	0.56863	.	0.000000	0.33875	N	0.004464	T	0.07324	0.0185	L	0.36672	1.1	0.40906	D	0.984194	D	0.65815	0.995	D	0.63877	0.919	T	0.16630	-1.0396	10	0.56958	D	0.05	-11.5067	10.0833	0.42404	0.2:0.8:0.0:0.0	.	1840	P78559	MAP1A_HUMAN	D	2078;1840;1840	ENSP00000371462:A2078D;ENSP00000382380:A1840D;ENSP00000300231:A1840D	ENSP00000300231:A1840D	A	+	2	0	MAP1A	41606482	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.689000	0.37700	2.391000	0.81399	0.557000	0.71058	GCT		0.612	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		21	56	1	0	1.87e-06	4.97e-06	21	56				
CATSPER2	117155	broad.mit.edu	37	15	43927989	43927989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:43927989C>T	ENST00000321596.5	-	9	1256	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Missense_Mutation_p.E353K|CATSPER2_ENST00000396879.1_Missense_Mutation_p.E353K|CATSPER2_ENST00000381761.1_Missense_Mutation_p.E359K|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000354127.4_Missense_Mutation_p.E353K			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	353					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCCATCTCCTCATTCAGCTCT	0.502																																						uc001zsh.2		NA																	0				ovary(1)	1						c.(1057-1059)GAG>AAG		sperm-associated cation channel 2 isoform 2							69.0	64.0	66.0					15																	43927989		2199	4297	6496	SO:0001583	missense	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43927989C>T	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1057G>A	15.37:g.43927989C>T	ENSP00000321463:p.Glu353Lys					CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.E353K|CATSPER2_uc001zsj.2_Missense_Mutation_p.E353K	p.E353K	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	9	1272	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	353			Cytoplasmic (Potential).		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	c.1057G>A	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	C	8.729	0.916233	0.17907	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.96802	-4.13;-4.13;-4.11;-4.13;-4.1	4.62	3.71	0.42584	.	0.278796	0.26623	N	0.023360	D	0.91489	0.7313	L	0.34521	1.04	0.30486	N	0.771861	B;B	0.33266	0.404;0.282	B;B	0.32583	0.148;0.076	D	0.87349	0.2336	10	0.27082	T	0.32	.	8.3071	0.32049	0.0:0.8929:0.0:0.1071	.	359;353	F8W9H2;Q96P56	.;CTSR2_HUMAN	K	353;353;359;353;353;353	ENSP00000380088:E353K;ENSP00000371180:E359K;ENSP00000321463:E353K;ENSP00000339137:E353K;ENSP00000347613:E353K	ENSP00000299989:E353K	E	-	1	0	CATSPER2	41715281	0.596000	0.26866	0.843000	0.33291	0.132000	0.20833	0.741000	0.26202	1.160000	0.42584	0.655000	0.94253	GAG		0.502	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		16	43	0	0	0	0	16	43				
UNC13C	440279	broad.mit.edu	37	15	54306178	54306178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:54306178G>A	ENST00000260323.11	+	1	1078	c.1078G>A	c.(1078-1080)Gct>Act	p.A360T	UNC13C_ENST00000537900.1_Missense_Mutation_p.A360T|UNC13C_ENST00000545554.1_Missense_Mutation_p.A360T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	360					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTGAATTTGCTCAGAGGAT	0.378																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(1078-1080)GCT>ACT		unc-13 homolog C							65.0	64.0	64.0					15																	54306178		1852	4091	5943	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306178G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1078G>A	15.37:g.54306178G>A	ENSP00000260323:p.Ala360Thr						p.A360T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1078	+			360					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1078G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078689	0.76528	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84660	-1.88;-1.88;-1.88	4.93	4.93	0.64822	.	.	.	.	.	D	0.88366	0.6417	L	0.29908	0.895	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.90154	0.4223	9	0.87932	D	0	.	17.1439	0.86761	0.0:0.0:1.0:0.0	.	360	Q8NB66	UN13C_HUMAN	T	360	ENSP00000260323:A360T;ENSP00000438156:A360T;ENSP00000442569:A360T	ENSP00000260323:A360T	A	+	1	0	UNC13C	52093470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.785000	0.99042	2.265000	0.75225	0.655000	0.94253	GCT		0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		12	31	0	0	0	0	12	31				
LARP6	55323	broad.mit.edu	37	15	71124454	71124454	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:71124454C>A	ENST00000299213.8	-	3	1483	c.1413G>T	c.(1411-1413)ttG>ttT	p.L471F	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	471					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GACCCCTGGGCAACCTCAGCA	0.547																																						uc002ass.2		NA																	0					0						c.(1411-1413)TTG>TTT		La ribonucleoprotein domain family, member 6							95.0	99.0	98.0					15																	71124454		2199	4297	6496	SO:0001583	missense	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71124454C>A	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.1413G>T	15.37:g.71124454C>A	ENSP00000299213:p.Leu471Phe						p.L471F	NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN			3	1484	-			471					Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	ENST00000299213.8	37	c.1413G>T	CCDS32281.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213633	0.58452	.	.	ENSG00000166173	ENST00000299213	T	0.52295	0.67	5.17	4.25	0.50352	SUZ-C domain (1);	0.000000	0.64402	D	0.000001	T	0.58666	0.2138	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.56920	-0.7899	10	0.39692	T	0.17	-12.3485	6.9464	0.24520	0.1701:0.7405:0.0:0.0893	.	471	Q9BRS8	LARP6_HUMAN	F	471	ENSP00000299213:L471F	ENSP00000299213:L471F	L	-	3	2	LARP6	68911508	0.995000	0.38212	1.000000	0.80357	0.975000	0.68041	0.414000	0.21164	1.169000	0.42739	0.455000	0.32223	TTG		0.547	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		25	91	1	0	2.42e-17	6.72e-17	25	91				
CEMIP	57214	broad.mit.edu	37	15	81230170	81230170	+	Missense_Mutation	SNP	G	G	A	rs372603353		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:81230170G>A	ENST00000394685.3	+	25	3676	c.3257G>A	c.(3256-3258)cGa>cAa	p.R1086Q	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R1086Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R1086Q			Q8WUJ3	CEMIP_HUMAN		1086					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCTACCCGCGAGGCACCACA	0.572																																						uc002bfw.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(3256-3258)CGA>CAA		KIAA1199 precursor		G	GLN/ARG	0,4406		0,0,2203	73.0	74.0	74.0		3257	3.7	0.0	15		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1199	NM_018689.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1086/1362	81230170	1,13005	2203	4300	6503	SO:0001583	missense	57214							g.chr15:81230170G>A																												ENST00000394685.3:c.3257G>A	15.37:g.81230170G>A	ENSP00000378177:p.Arg1086Gln					KIAA1199_uc010unn.1_Missense_Mutation_p.R1086Q	p.R1086Q	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			24	3517	+			1086					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.3257G>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431436	0.12045	0.0	1.16E-4	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.43688	0.94;0.94;0.94	5.57	3.71	0.42584	.	0.193870	0.41500	N	0.000864	T	0.29158	0.0725	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21621	-1.0240	10	0.13108	T	0.6	-12.0196	8.6034	0.33758	0.3101:0.0:0.6899:0.0	.	1086	Q8WUJ3	K1199_HUMAN	Q	1086	ENSP00000220244:R1086Q;ENSP00000378177:R1086Q;ENSP00000348583:R1086Q	ENSP00000220244:R1086Q	R	+	2	0	KIAA1199	79017225	0.018000	0.18449	0.014000	0.15608	0.454000	0.32378	1.275000	0.33144	0.723000	0.32274	0.655000	0.94253	CGA		0.572	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			37	91	0	0	0	0	37	91				
TMC3	342125	broad.mit.edu	37	15	81648086	81648086	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:81648086C>G	ENST00000359440.5	-	9	1050	c.915G>C	c.(913-915)gaG>gaC	p.E305D	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.E305D|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTTTCTTTTTCTCCTGTTCTT	0.284																																						uc002bgo.1		NA																	0				ovary(1)|liver(1)	2						c.(913-915)GAG>GAC		transmembrane channel-like 3							139.0	134.0	135.0					15																	81648086		1792	4054	5846	SO:0001583	missense	342125					integral to membrane		g.chr15:81648086C>G	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.915G>C	15.37:g.81648086C>G	ENSP00000352413:p.Glu305Asp					TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.E305D	p.E305D	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			9	915	-			305			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.915G>C	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184141	0.57800	.	.	ENSG00000188869	ENST00000359440	D	0.90504	-2.68	4.86	-8.0	0.01126	.	0.000000	0.85682	D	0.000000	D	0.92270	0.7548	M	0.67625	2.065	0.41817	D	0.990009	D;D	0.67145	0.996;0.992	D;P	0.68192	0.956;0.83	D	0.92955	0.6384	10	0.59425	D	0.04	-14.6963	15.9857	0.80151	0.0:0.6136:0.0:0.3864	.	305;305	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	D	305	ENSP00000352413:E305D	ENSP00000352413:E305D	E	-	3	2	TMC3	79435141	0.925000	0.31364	0.640000	0.29408	0.737000	0.42083	-0.322000	0.08007	-1.960000	0.01017	-0.266000	0.10368	GAG		0.284	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		14	44	0	0	0	0	14	44				
ALDH1A3	220	broad.mit.edu	37	15	101447334	101447334	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:101447334G>T	ENST00000329841.5	+	11	1774	c.1242G>T	c.(1240-1242)ggG>ggT	p.G414G	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Silent_p.G307G	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	414					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	AGATTTTCGGGCCAGTGCAAC	0.398																																						uc002bwn.3		NA																	0				central_nervous_system(2)|lung(1)|pancreas(1)	4						c.(1240-1242)GGG>GGT		aldehyde dehydrogenase 1A3	NADH(DB00157)|Vitamin A(DB00162)						104.0	96.0	98.0					15																	101447334		2203	4300	6503	SO:0001819	synonymous_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101447334G>T	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1242G>T	15.37:g.101447334G>T						ALDH1A3_uc010bpb.2_Silent_p.G307G|uc002bwo.1_Intron	p.G414G	NM_000693	NP_000684	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		11	1346	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		414					Q6NT64	Silent	SNP	ENST00000329841.5	37	c.1242G>T	CCDS10389.1																																																																																				0.398	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			10	42	1	0	0.000442599	0.00111477	10	42				
ALDH1A3	220	broad.mit.edu	37	15	101448628	101448628	+	Silent	SNP	C	C	T	rs145659258	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:101448628C>T	ENST00000329841.5	+	12	1939	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Silent_p.N362N	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	469					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ACTGCTACAACGCCCTCTATG	0.512													c|||	35	0.00698882	0.0	0.0	5008	,	,		19162	0.0		0.0	False		,,,				2504	0.0358					uc002bwn.3		NA																	0				central_nervous_system(2)|lung(1)|pancreas(1)	4						c.(1405-1407)AAC>AAT		aldehyde dehydrogenase 1A3	NADH(DB00157)|Vitamin A(DB00162)	T		2,4404	4.2+/-10.8	0,2,2201	133.0	114.0	121.0		1407	-5.5	0.4	15	dbSNP_134	121	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ALDH1A3	NM_000693.2		0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384		469/513	101448628	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101448628C>T	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1407C>T	15.37:g.101448628C>T						ALDH1A3_uc010bpb.2_Silent_p.N362N|uc002bwo.1_Intron	p.N469N	NM_000693	NP_000684	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		12	1511	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		469					Q6NT64	Silent	SNP	ENST00000329841.5	37	c.1407C>T	CCDS10389.1																																																																																				0.512	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			10	37	0	0	0	0	10	37				
JMJD8	339123	broad.mit.edu	37	16	732456	732456	+	3'UTR	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:732456C>T	ENST00000293882.4	-	0	1342				LA16c-313D11.9_ENST00000567091.1_RNA|STUB1_ENST00000564370.1_Silent_p.F221F|LA16c-313D11.9_ENST00000571933.1_RNA|JMJD8_ENST00000412368.2_3'UTR|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000609261.1_3'UTR|STUB1_ENST00000565677.1_Silent_p.F221F|STUB1_ENST00000219548.4_Silent_p.F293F			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						TTGACGCATTCATCTCTGAGA	0.607																																						uc002cit.2		NA																	0					0						c.(877-879)TTC>TTT		STIP1 homology and U-box containing protein 1							93.0	85.0	88.0					16																	732456		2201	4299	6500	SO:0001624	3_prime_UTR_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:732456C>T		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*338G>A	16.37:g.732456C>T						STUB1_uc002ciu.2_Silent_p.F221F|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	p.F293F	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN			7	1290	+		Hepatocellular(780;0.00335)	293			U-box.		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Silent	SNP	ENST00000293882.4	37	c.879C>T																																																																																					0.607	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		26	108	0	0	0	0	26	108				
JMJD8	339123	broad.mit.edu	37	16	733066	733066	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:733066C>T	ENST00000293882.4	-	8	810	c.811G>A	c.(811-813)Gag>Aag	p.E271K	JMJD8_ENST00000562824.1_Missense_Mutation_p.E171K|JMJD8_ENST00000412368.2_Missense_Mutation_p.E222K|JMJD8_ENST00000562111.1_Intron|JMJD8_ENST00000454700.1_Missense_Mutation_p.E241K|JMJD8_ENST00000609261.1_Missense_Mutation_p.E201K			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	271	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					extracellular vesicular exosome (GO:0070062)				breast(1)	1						GGCGTCTTCTCAGGTGGGTAA	0.637																																						uc002ciw.1		NA																	0				breast(1)	1						c.(664-666)GAG>AAG		jumonji domain containing 8							99.0	116.0	110.0					16																	733066		2148	4251	6399	SO:0001583	missense	339123							g.chr16:733066C>T		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.811G>A	16.37:g.733066C>T	ENSP00000293882:p.Glu271Lys					JMJD8_uc002cix.1_Missense_Mutation_p.E222K|JMJD8_uc002ciy.1_Missense_Mutation_p.E192K	p.E222K	NM_001005920	NP_001005920	Q96S16	JMJD8_HUMAN			8	721	-			271			JmjC.		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	ENST00000293882.4	37	c.664G>A		.	.	.	.	.	.	.	.	.	.	C	13.50	2.256632	0.39896	.	.	ENSG00000161999	ENST00000412368;ENST00000293882;ENST00000454700	T;T;T	0.71461	-0.57;-0.57;-0.57	4.42	4.42	0.53409	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.228444	0.43747	D	0.000521	T	0.56187	0.1968	N	0.19112	0.55	0.52501	D	0.999959	B;B	0.31383	0.274;0.321	B;B	0.31869	0.084;0.137	T	0.54214	-0.8327	10	0.20046	T	0.44	-29.0789	16.217	0.82237	0.0:1.0:0.0:0.0	.	241;271	Q96S16-2;Q96S16	.;JMJD8_HUMAN	K	222;271;241	ENSP00000399475:E222K;ENSP00000293882:E271K;ENSP00000394147:E241K	ENSP00000293882:E271K	E	-	1	0	JMJD8	673067	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.469000	0.66749	2.294000	0.77228	0.655000	0.94253	GAG		0.637	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		28	89	0	0	0	0	28	89				
TMEM159	57146	broad.mit.edu	37	16	21181823	21181823	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:21181823C>T	ENST00000233047.4	+	3	630	c.162C>T	c.(160-162)acC>acT	p.T54T	TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000261388.3_Silent_p.T54T|TMEM159_ENST00000451578.2_Silent_p.T78T|TMEM159_ENST00000572599.1_Silent_p.T54T|TMEM159_ENST00000572258.1_Silent_p.T54T			Q96B96	TM159_HUMAN	transmembrane protein 159	54						integral component of membrane (GO:0016021)				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		TGGCCTTCACCTTGCTGGTGT	0.522																																						uc002dif.3		NA																	0				ovary(1)	1						c.(160-162)ACC>ACT		transmembrane protein 159							384.0	300.0	328.0					16																	21181823		2200	4300	6500	SO:0001819	synonymous_variant	57146					integral to membrane		g.chr16:21181823C>T	AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.162C>T	16.37:g.21181823C>T						TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Silent_p.T78T|TMEM159_uc002dih.3_Silent_p.T54T	p.T54T	NM_020422	NP_065155	Q96B96	TM159_HUMAN		GBM - Glioblastoma multiforme(48;0.0972)	3	523	+			54					A6NMA9|B4DEC1|O00323	Silent	SNP	ENST00000233047.4	37	c.162C>T	CCDS10595.1																																																																																				0.522	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1	NM_020422		38	124	0	0	0	0	38	124				
ANKS4B	257629	broad.mit.edu	37	16	21262063	21262063	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:21262063G>A	ENST00000311620.5	+	2	1249	c.1176G>A	c.(1174-1176)agG>agA	p.R392R		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	392	SAM.				response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGGTCCCAGGAAGAAAGTTC	0.512																																						uc010bwp.1		NA																	0				ovary(2)	2						c.(1174-1176)AGG>AGA		harmonin-interacting ankyrin-repeat containing							78.0	79.0	79.0					16																	21262063		2005	4172	6177	SO:0001819	synonymous_variant	257629							g.chr16:21262063G>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.1176G>A	16.37:g.21262063G>A						CRYM_uc010bwq.1_Intron	p.R392R	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	1219	+			392			SAM.			Silent	SNP	ENST00000311620.5	37	c.1176G>A	CCDS42130.1																																																																																				0.512	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		26	99	0	0	0	0	26	99				
ZNF48	197407	broad.mit.edu	37	16	30409298	30409298	+	Missense_Mutation	SNP	C	C	T	rs369371622		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:30409298C>T	ENST00000320159.2	+	2	1103	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R243W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCGGACACACCGGGGGGAGCA	0.647																																						uc002dya.1		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(727-729)CGG>TGG		zinc finger protein 48		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4394		0,0,2197	38.0	45.0	43.0		727,358,727,727	1.6	0.8	16		43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ZNF48	NM_001214906.1,NM_001214907.1,NM_001214909.1,NM_152652.2	101,101,101,101	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	243/619,120/496,243/619,243/619	30409298	1,12993	2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409298C>T	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.727C>T	16.37:g.30409298C>T	ENSP00000324056:p.Arg243Trp					ZNF48_uc002dxz.1_Missense_Mutation_p.R120W	p.R243W	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN			2	786	+			243					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.727C>T	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681458	0.47991	0.0	1.16E-4	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.08102	3.13	4.9	1.56	0.23342	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.251729	0.20623	N	0.088732	T	0.20700	0.0498	L	0.54323	1.7	0.24364	N	0.994866	D	0.67145	0.996	D	0.72625	0.978	T	0.01753	-1.1281	10	0.87932	D	0	-13.6207	11.4311	0.50041	0.6152:0.3848:0.0:0.0	.	243	Q96MX3	ZNF48_HUMAN	W	368;243	ENSP00000324056:R243W	ENSP00000324056:R243W	R	+	1	2	ZNF48	30316799	0.007000	0.16637	0.831000	0.32960	0.983000	0.72400	0.150000	0.16263	0.724000	0.32296	-0.261000	0.10672	CGG		0.647	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		10	61	0	0	0	0	10	61				
ZNF629	23361	broad.mit.edu	37	16	30793311	30793311	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:30793311G>A	ENST00000262525.4	-	3	2545	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGCCACGCGGTCGAGGAAG	0.647																																						uc002dzs.1		NA																	0					0						c.(2338-2340)CGC>TGC		zinc finger protein 629							80.0	94.0	89.0					16																	30793311		1916	4111	6027	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793311G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2338C>T	16.37:g.30793311G>A	ENSP00000262525:p.Arg780Cys						p.R780C	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2546	-			780			C2H2-type 18.		Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.2338C>T	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953204	0.34471	.	.	ENSG00000102870	ENST00000262525	T	0.16073	2.37	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41396	D	0.000899	T	0.31389	0.0795	L	0.43598	1.365	0.44123	D	0.996903	D	0.89917	1.0	D	0.69824	0.966	T	0.00589	-1.1656	10	0.41790	T	0.15	-52.8492	12.2068	0.54356	0.0:0.0:0.8298:0.1702	.	780	Q9UEG4	ZN629_HUMAN	C	780	ENSP00000262525:R780C	ENSP00000262525:R780C	R	-	1	0	ZNF629	30700812	0.382000	0.25148	0.949000	0.38748	0.294000	0.27393	2.785000	0.47782	2.677000	0.91161	0.561000	0.74099	CGC		0.647	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		44	145	0	0	0	0	44	145				
SALL1	6299	broad.mit.edu	37	16	51171359	51171359	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:51171359G>A	ENST00000251020.4	-	3	3672	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Silent_p.F1116F|SALL1_ENST00000541611.1_Silent_p.F36F	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1213					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACATTTCTGGGAACTTGACGG	0.567																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(3637-3639)TTC>TTT		sal-like 1 isoform a							52.0	49.0	50.0					16																	51171359		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171359G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3639C>T	16.37:g.51171359G>A						SALL1_uc010vgr.1_Silent_p.F1116F|SALL1_uc010cbv.2_Silent_p.F65F	p.F1213F	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	3670	-		all_cancers(37;0.0322)	1213					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.3639C>T	CCDS10747.1																																																																																				0.567	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		13	48	0	0	0	0	13	48				
TOX3	27324	broad.mit.edu	37	16	52484290	52484290	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:52484290C>T	ENST00000219746.9	-	4	861	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	TOX3_ENST00000407228.3_Missense_Mutation_p.A188T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	193					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGCATACTGGCACCTCCCAAA	0.567																																						uc002egw.2		NA																	0					0						c.(577-579)GCC>ACC		TOX high mobility group box family member 3							154.0	160.0	158.0					16																	52484290		2133	4238	6371	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52484290C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.577G>A	16.37:g.52484290C>T	ENSP00000219746:p.Ala193Thr					TOX3_uc010vgt.1_Missense_Mutation_p.A188T|TOX3_uc010vgu.1_Missense_Mutation_p.A193T	p.A193T	NM_001080430	NP_001073899	O15405	TOX3_HUMAN			4	748	-			193					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.577G>A	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	7.968	0.748385	0.15710	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.09911	2.94;2.93	5.71	2.62	0.31277	.	0.296086	0.33327	N	0.005021	T	0.04003	0.0112	N	0.03115	-0.41	0.24385	N	0.994776	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.37291	-0.9712	10	0.32370	T	0.25	.	5.8259	0.18554	0.0:0.5742:0.1325:0.2933	.	188;193	B4DRD0;O15405	.;TOX3_HUMAN	T	193;188	ENSP00000219746:A193T;ENSP00000385705:A188T	ENSP00000219746:A193T	A	-	1	0	TOX3	51041791	0.930000	0.31532	0.894000	0.35097	0.003000	0.03518	1.643000	0.37217	0.773000	0.33404	-0.253000	0.11424	GCC		0.567	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		36	122	0	0	0	0	36	122				
CDH3	1001	broad.mit.edu	37	16	68721545	68721545	+	Silent	SNP	C	C	T	rs140790125	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:68721545C>T	ENST00000264012.4	+	12	2245	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	CDH3_ENST00000429102.2_Silent_p.I567I|CDH3_ENST00000581171.1_Silent_p.I512I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	567	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGCTGAACATCACGGACAAGG	0.562																																						uc002ewf.2		NA																	2	Unknown(2)	p.?(1)	breast(2)	ovary(3)|breast(1)|skin(1)	5						c.(1699-1701)ATC>ATT		cadherin 3, type 1 preproprotein		C		0,4396		0,0,2198	165.0	129.0	141.0		1701	5.1	1.0	16	dbSNP_134	141	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CDH3	NM_001793.4		0,3,6495	TT,TC,CC		0.0349,0.0,0.0231		567/830	68721545	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68721545C>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1701C>T	16.37:g.68721545C>T						CDH3_uc010vli.1_Silent_p.I512I	p.I567I	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	12	2833	+		Ovarian(137;0.0564)	567			Cadherin 5.|Extracellular (Potential).		B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.1701C>T	CCDS10868.1																																																																																				0.562	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		25	70	0	0	0	0	25	70				
MLKL	197259	broad.mit.edu	37	16	74719469	74719469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:74719469C>G	ENST00000308807.7	-	5	1198	c.735G>C	c.(733-735)caG>caC	p.Q245H	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TATTGAAAGTCTGCCTCACTA	0.398																																						uc002fdb.2		NA																	0				stomach(2)	2						c.(733-735)CAG>CAC		mixed lineage kinase domain-like isoform 1							99.0	90.0	93.0					16																	74719469		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74719469C>G	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.735G>C	16.37:g.74719469C>G	ENSP00000308351:p.Gln245His					MLKL_uc002fdc.2_Intron	p.Q245H	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN			5	1176	-			245			Protein kinase.			Missense_Mutation	SNP	ENST00000308807.7	37	c.735G>C	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	6.137	0.393556	0.11638	.	.	ENSG00000168404	ENST00000308807	D	0.83335	-1.71	4.58	-9.15	0.00698	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	3.327840	0.00691	N	0.000737	T	0.66406	0.2786	N	0.17901	0.54	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.54084	-0.8346	10	0.38643	T	0.18	9.1172	4.8801	0.13676	0.1473:0.4967:0.2523:0.1037	.	245	Q8NB16	MLKL_HUMAN	H	245	ENSP00000308351:Q245H	ENSP00000308351:Q245H	Q	-	3	2	MLKL	73276970	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.072000	0.03434	-1.725000	0.01371	-1.948000	0.00487	CAG		0.398	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		3	23	0	0	0	0	3	23				
JPH3	57338	broad.mit.edu	37	16	87636924	87636924	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:87636924G>A	ENST00000284262.2	+	1	414	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	RP11-482M8.3_ENST00000602388.1_RNA	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	58	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CTGGCCCAGCGGCAACACGTA	0.682																																						uc002fkd.2		NA																	0				ovary(1)|pancreas(1)	2						c.(172-174)GGC>AGC		junctophilin 3							37.0	36.0	36.0					16																	87636924		2198	4298	6496	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87636924G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.172G>A	16.37:g.87636924G>A	ENSP00000284262:p.Gly58Ser					JPH3_uc010vou.1_Intron	p.G58S	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	1	426	+			58			Gly-rich.|Cytoplasmic (Potential).|MORN 2.		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.172G>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406287	0.96051	.	.	ENSG00000154118	ENST00000301008;ENST00000284262	T	0.79554	-1.28	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93108	0.6514	10	0.72032	D	0.01	.	15.2272	0.73359	0.0:0.0:1.0:0.0	.	58	Q8WXH2	JPH3_HUMAN	S	58	ENSP00000284262:G58S	ENSP00000284262:G58S	G	+	1	0	JPH3	86194425	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.083000	0.94067	1.800000	0.52685	0.462000	0.41574	GGC		0.682	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			9	27	0	0	0	0	9	27				
ABR	29	broad.mit.edu	37	17	961286	961286	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:961286C>T	ENST00000302538.5	-	12	1452		c.e12-1		ABR_ENST00000574437.1_Splice_Site|ABR_ENST00000536794.2_Splice_Site|ABR_ENST00000291107.2_Splice_Site|ABR_ENST00000573895.1_5'UTR|ABR_ENST00000544583.2_Splice_Site	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACAGGTAACTCTGAAGAGAGG	0.468																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.e12-1		active breakpoint cluster region-related							109.0	81.0	91.0					17																	961286		2203	4300	6503	SO:0001630	splice_region_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:961286C>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1306-1G>A	17.37:g.961286C>T						ABR_uc002fse.2_Splice_Site_p.S390_splice|ABR_uc010vqg.1_Splice_Site_p.S218_splice|ABR_uc002fsg.2_Splice_Site_p.S399_splice|ABR_uc002fsh.1_Intron	p.S436_splice	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	12	1416	-								B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Splice_Site	SNP	ENST00000302538.5	37	c.1306_splice	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342031	0.61073	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1588	0.86798	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABR	908036	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.291000	0.78721	2.640000	0.89533	0.491000	0.48974	.		0.468	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		Intron	9	30	0	0	0	0	9	30				
SMYD4	114826	broad.mit.edu	37	17	1704088	1704088	+	Silent	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:1704088T>C	ENST00000305513.7	-	5	767	c.600A>G	c.(598-600)gaA>gaG	p.E200E		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	200							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GACTGTCCTTTTCTTGCATCT	0.498																																						uc002ftm.3		NA																	0				skin(3)|kidney(2)	5						c.(598-600)GAA>GAG		SET and MYND domain containing 4							176.0	167.0	170.0					17																	1704088		2203	4300	6503	SO:0001819	synonymous_variant	114826						zinc ion binding	g.chr17:1704088T>C	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.600A>G	17.37:g.1704088T>C						SMYD4_uc002ftn.1_Silent_p.E55E	p.E200E	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			5	768	-			200					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	c.600A>G	CCDS11013.1																																																																																				0.498	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		48	164	0	0	0	0	48	164				
XAF1	54739	broad.mit.edu	37	17	6665481	6665481	+	Silent	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:6665481A>G	ENST00000361842.3	+	5	668	c.429A>G	c.(427-429)agA>agG	p.R143R	XAF1_ENST00000346752.4_Silent_p.R124R|XAF1_ENST00000441631.1_Silent_p.R143R	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	143					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CAGGGGAAAGAATTTCAGCTC	0.413																																						uc002gdn.2		NA																	0					0						c.(427-429)AGA>AGG		XIAP associated factor 1 isoform 1							83.0	80.0	81.0					17																	6665481		2203	4300	6503	SO:0001819	synonymous_variant	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6665481A>G	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.429A>G	17.37:g.6665481A>G						XAF1_uc002gdm.1_Silent_p.R83R|XAF1_uc002gdo.2_Silent_p.R124R|XAF1_uc002gdp.2_Intron|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_Intron	p.R143R	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN			5	671	+			143					A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Silent	SNP	ENST00000361842.3	37	c.429A>G	CCDS11080.1																																																																																				0.413	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		9	21	0	0	0	0	9	21				
TP53	7157	broad.mit.edu	37	17	7579533	7579533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:7579533G>A	ENST00000269305.4	-	4	343	c.154C>T	c.(154-156)Caa>Taa	p.Q52*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q52*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q52*	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	52	Interaction with HRMT1L2.		Q -> H (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGAACCATTGTTCAATATCG	0.592		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		29	Substitution - Nonsense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - insertion inframe(1)	p.0?(7)|p.Q52*(6)|p.Q52>P*(1)|p.Q52H(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(6)|prostate(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|stomach(2)|central_nervous_system(2)|large_intestine(1)|kidney(1)|endometrium(1)|breast(1)|pancreas(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						c.(154-156)CAA>TAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							168.0	167.0	167.0					17																	7579533		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579533G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.154C>T	17.37:g.7579533G>A	ENSP00000269305:p.Gln52*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.Q52*|TP53_uc002gih.2_Nonsense_Mutation_p.Q52*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.Q52*|TP53_uc010cni.1_Nonsense_Mutation_p.Q52*|TP53_uc002gij.2_Nonsense_Mutation_p.Q52*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.Q13*|TP53_uc010cnk.1_Nonsense_Mutation_p.Q67*	p.Q52*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	348	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	52		Q -> H (in a sporadic cancer; somatic mutation).	TADII.|Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.154C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125595	0.37533	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.95	-3.61	0.04556	.	1.917440	0.02364	N	0.077219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-0.5405	7.1769	0.25749	0.0:0.5269:0.1712:0.3019	.	.	.	.	X	52	.	ENSP00000269305:Q52X	Q	-	1	0	TP53	7520258	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.233000	0.09041	-0.824000	0.04295	-1.083000	0.02208	CAA		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		67	183	0	0	0	0	67	183				
MYH4	4622	broad.mit.edu	37	17	10348460	10348460	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:10348460C>A	ENST00000255381.2	-	37	5409	c.5299G>T	c.(5299-5301)Gcc>Tcc	p.A1767S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1767					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCATCATGGCAGCCTAGTTA	0.473																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(5299-5301)GCC>TCC		myosin, heavy polypeptide 4, skeletal muscle							129.0	125.0	127.0					17																	10348460		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348460C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5299G>T	17.37:g.10348460C>A	ENSP00000255381:p.Ala1767Ser					uc002gml.1_Intron	p.A1767S	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			37	5410	-			1767			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.5299G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734420	0.69189	.	.	ENSG00000141048	ENST00000255381	T	0.79454	-1.27	5.5	4.52	0.55395	Myosin tail (1);	0.000000	0.37178	U	0.002217	D	0.83496	0.5267	M	0.67397	2.05	0.54753	D	0.999986	D	0.53312	0.959	P	0.54924	0.764	D	0.85000	0.0899	10	0.52906	T	0.07	.	16.0834	0.81020	0.135:0.865:0.0:0.0	.	1767	Q9Y623	MYH4_HUMAN	S	1767	ENSP00000255381:A1767S	ENSP00000255381:A1767S	A	-	1	0	MYH4	10289185	1.000000	0.71417	0.942000	0.38095	0.552000	0.35366	7.773000	0.85462	1.444000	0.47605	0.591000	0.81541	GCC		0.473	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		53	159	1	0	3.46e-24	9.73e-24	53	159				
NCOR1	9611	broad.mit.edu	37	17	15964844	15964844	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:15964844C>G	ENST00000268712.3	-	37	6009	c.5752G>C	c.(5752-5754)Gag>Cag	p.E1918Q	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.E502Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1918	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCTTAGCTCTTCCTCATAT	0.498																																						uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(5752-5754)GAG>CAG		nuclear receptor co-repressor 1							241.0	228.0	232.0					17																	15964844		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15964844C>G	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5752G>C	17.37:g.15964844C>G	ENSP00000268712:p.Glu1918Gln					NCOR1_uc002gpn.2_Intron|NCOR1_uc002gpm.2_Missense_Mutation_p.E438Q|NCOR1_uc010vwb.1_Missense_Mutation_p.E502Q|NCOR1_uc010coy.2_Missense_Mutation_p.E826Q|NCOR1_uc010vwc.1_Missense_Mutation_p.E728Q	p.E1918Q	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	37	5992	-			1918			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.5752G>C	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408449	0.83340	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.55234	0.53;0.53	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.74366	0.3707	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.999;1.0	D;D;D;D	0.91635	0.994;0.99;0.994;0.999	T	0.75786	-0.3195	10	0.87932	D	0	-12.4132	19.1914	0.93667	0.0:1.0:0.0:0.0	.	728;1822;1918;438	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	Q	1918;1822;502	ENSP00000268712:E1918Q;ENSP00000379198:E502Q	ENSP00000268712:E1918Q	E	-	1	0	NCOR1	15905569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.438000	0.80431	2.785000	0.95823	0.650000	0.86243	GAG		0.498	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		59	192	0	0	0	0	59	192				
RAI1	10743	broad.mit.edu	37	17	17700989	17700989	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:17700989G>A	ENST00000353383.1	+	3	5196	c.4727G>A	c.(4726-4728)cGc>cAc	p.R1576H	RAI1_ENST00000261641.6_Missense_Mutation_p.R1576H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1576					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGAAATCCGCCTCAAGTAC	0.637																																						uc002grm.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(4726-4728)CGC>CAC		retinoic acid induced 1							56.0	66.0	63.0					17																	17700989		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700989G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4727G>A	17.37:g.17700989G>A	ENSP00000323074:p.Arg1576His					RAI1_uc002grn.1_Missense_Mutation_p.R1576H	p.R1576H	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5196	+			1576					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4727G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898404	0.72639	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.68903	-0.36;0.04	4.73	4.73	0.59995	.	0.087451	0.48286	D	0.000192	T	0.69342	0.3100	L	0.29908	0.895	0.37539	D	0.918242	D	0.76494	0.999	D	0.64687	0.928	T	0.74694	-0.3579	10	0.87932	D	0	.	11.3679	0.49684	0.0849:0.0:0.9151:0.0	.	1576	Q7Z5J4	RAI1_HUMAN	H	1576;1576;1576;1464	ENSP00000323074:R1576H;ENSP00000261641:R1576H	ENSP00000261641:R1576H	R	+	2	0	RAI1	17641714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.209000	0.42806	2.621000	0.88768	0.561000	0.74099	CGC		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		33	104	0	0	0	0	33	104				
CPD	1362	broad.mit.edu	37	17	28706100	28706100	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:28706100C>G	ENST00000225719.4	+	1	178	c.102C>G	c.(100-102)atC>atG	p.I34M	CPD_ENST00000543464.2_5'Flank	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	34	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CGGCTCACATCAAGAAGGCGG	0.706																																						uc002hfb.1		NA																	0				liver(1)|skin(1)	2						c.(100-102)ATC>ATG		carboxypeptidase D precursor							3.0	4.0	4.0					17																	28706100		1936	3965	5901	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28706100C>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.102C>G	17.37:g.28706100C>G	ENSP00000225719:p.Ile34Met					CPD_uc010wbo.1_5'Flank|CPD_uc010wbp.1_5'Flank	p.I34M	NM_001304	NP_001295	O75976	CBPD_HUMAN			1	117	+			34			Extracellular (Potential).|Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.102C>G	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117586	0.56505	.	.	ENSG00000108582	ENST00000225719	T	0.20881	2.04	4.47	4.47	0.54385	.	2.734890	0.01398	N	0.013512	T	0.25457	0.0619	N	0.24115	0.695	0.80722	D	1	D	0.56968	0.978	P	0.45881	0.496	T	0.22800	-1.0206	10	0.41790	T	0.15	.	15.8399	0.78837	0.0:1.0:0.0:0.0	.	34	O75976	CBPD_HUMAN	M	34	ENSP00000225719:I34M	ENSP00000225719:I34M	I	+	3	3	CPD	25730226	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.713000	0.47194	2.295000	0.77249	0.585000	0.79938	ATC		0.706	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		3	5	0	0	0	0	3	5				
NEUROD2	4761	broad.mit.edu	37	17	37761719	37761719	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:37761719C>A	ENST00000302584.4	-	2	1354	c.1134G>T	c.(1132-1134)gcG>gcT	p.A378A		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	378					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TATGAAAAAACGCATTGAGCT	0.612																																						uc002hry.2		NA																	0					0						c.(1132-1134)GCG>GCT		neurogenic differentiation 2							17.0	21.0	19.0					17																	37761719		2198	4298	6496	SO:0001819	synonymous_variant	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37761719C>A	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"""Basic helix-loop-helix proteins"""	7763	protein-coding gene	gene with protein product		601725	"""neurogenic differentiation 2"""			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.1134G>T	17.37:g.37761719C>A							p.A378A	NM_006160	NP_006151	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		2	1334	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		378					Q8TBI7|Q9UQC6	Silent	SNP	ENST00000302584.4	37	c.1134G>T	CCDS11338.1																																																																																				0.612	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		6	15	1	0	0.00198382	0.00495635	6	15				
THRA	7067	broad.mit.edu	37	17	38245491	38245491	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:38245491G>C	ENST00000264637.4	+	9	1595	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	THRA_ENST00000394121.4_Missense_Mutation_p.E339Q|THRA_ENST00000450525.2_Missense_Mutation_p.E339Q|THRA_ENST00000584985.1_Missense_Mutation_p.E339Q|THRA_ENST00000546243.1_Missense_Mutation_p.E339Q	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	339	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGACAAGATCGAGAAGAGTCA	0.622																																						uc002htw.2		NA																	0					0						c.(1015-1017)GAG>CAG		thyroid hormone receptor, alpha isoform 2	Levothyroxine(DB00451)|Liothyronine(DB00279)						170.0	125.0	140.0					17																	38245491		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38245491G>C	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1015G>C	17.37:g.38245491G>C	ENSP00000264637:p.Glu339Gln					THRA_uc010cwp.1_Missense_Mutation_p.E339Q|THRA_uc002htv.2_Missense_Mutation_p.E339Q|THRA_uc002htx.2_Missense_Mutation_p.E339Q	p.E339Q	NM_003250	NP_003241	P10827	THA_HUMAN			9	1498	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	339			Ligand-binding.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.1015G>C	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	g	18.92	3.726552	0.69074	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	4.5	3.5	0.40072	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97717	0.9251	M	0.64080	1.96	0.51233	D	0.999913	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.76575	0.987;0.983;0.988	D	0.98036	1.0379	10	0.87932	D	0	.	13.2305	0.59941	0.0:0.1616:0.8384:0.0	.	339;339;339	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	Q	339	ENSP00000377679:E339Q;ENSP00000264637:E339Q;ENSP00000395641:E339Q;ENSP00000443972:E339Q	ENSP00000264637:E339Q	E	+	1	0	THRA	35499017	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.335000	0.96500	1.060000	0.40578	0.424000	0.28305	GAG		0.622	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			23	116	0	0	0	0	23	116				
PSME3	10197	broad.mit.edu	37	17	40986892	40986892	+	Splice_Site	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:40986892G>A	ENST00000590720.1	+	4	475	c.242G>A	c.(241-243)gGt>gAt	p.G81D	PSME3_ENST00000441946.2_Splice_Site_p.G92D|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000293362.3_Splice_Site_p.G81D|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000545225.1_Splice_Site_p.G20D			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTGGATGGTGTAAGTGTC	0.443																																						uc002ibr.2		NA																	0					0						c.(241-243)GGT>GAT		proteasome activator subunit 3 isoform 1							160.0	131.0	141.0					17																	40986892		2203	4300	6503	SO:0001630	splice_region_variant	10197				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding	g.chr17:40986892G>A	U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"""Proteasome (prosome, macropain) subunits"""	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.243+1G>A	17.37:g.40986892G>A						PSME3_uc002ibp.2_Missense_Mutation_p.G20D|PSME3_uc002ibq.2_Missense_Mutation_p.G81D|PSME3_uc002ibs.2_Missense_Mutation_p.G92D|PSME3_uc010whd.1_Missense_Mutation_p.V6I	p.G81D	NM_005789	NP_005780	P61289	PSME3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	468	+		Breast(137;0.000143)	81					A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	ENST00000590720.1	37	c.242G>A	CCDS45689.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110023	0.37242	.	.	ENSG00000131467	ENST00000545225;ENST00000293362;ENST00000441946;ENST00000543428	T;T;T	0.48201	1.48;1.89;0.82	5.5	4.53	0.55603	.	0.389603	0.26106	N	0.026319	T	0.32734	0.0839	N	0.14661	0.345	0.80722	D	1	P;P;P	0.47962	0.624;0.624;0.903	B;B;P	0.46885	0.174;0.174;0.53	T	0.04885	-1.0920	10	0.14656	T	0.56	-19.7707	10.0049	0.41951	0.0717:0.1375:0.7907:0.0	.	81;81;81	Q6FHK7;P61289;P61289-2	.;PSME3_HUMAN;.	D	20;81;81;81	ENSP00000441682:G20D;ENSP00000293362:G81D;ENSP00000437924:G81D	ENSP00000293362:G81D	G	+	2	0	PSME3	38240418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.161000	0.50747	1.556000	0.49512	0.650000	0.86243	GGT		0.443	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452430.1	NM_176863	Missense_Mutation	14	50	0	0	0	0	14	50				
AOC3	8639	broad.mit.edu	37	17	41006513	41006513	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:41006513C>A	ENST00000308423.2	+	2	1809	c.1649C>A	c.(1648-1650)gCt>gAt	p.A550D	AOC3_ENST00000591562.1_Missense_Mutation_p.A7D	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	550					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTCCCCATGGCTGTGCCCTGG	0.662																																					NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1648-1650)GCT>GAT		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						53.0	47.0	49.0					17																	41006513		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41006513C>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1649C>A	17.37:g.41006513C>A	ENSP00000312326:p.Ala550Asp						p.A550D	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	2	1809	+		Breast(137;0.000143)	550			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1649C>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737181	0.30774	.	.	ENSG00000131471	ENST00000308423	T	0.03889	3.77	5.32	3.31	0.37934	Copper amine oxidase, C-terminal (3);	1.240000	0.05436	N	0.546860	T	0.05181	0.0138	L	0.43923	1.385	0.09310	N	1	B	0.21688	0.059	B	0.24848	0.056	T	0.49916	-0.8888	10	0.09590	T	0.72	.	3.9273	0.09269	0.3678:0.4175:0.1371:0.0777	.	550	Q16853	AOC3_HUMAN	D	550	ENSP00000312326:A550D	ENSP00000312326:A550D	A	+	2	0	AOC3	38260039	0.000000	0.05858	0.036000	0.18154	0.988000	0.76386	0.259000	0.18405	0.616000	0.30141	0.563000	0.77884	GCT		0.662	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		17	48	1	0	8.01e-06	2.09e-05	17	48				
EMILIN2	84034	broad.mit.edu	37	18	2891362	2891362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr18:2891362G>A	ENST00000254528.3	+	4	1396	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	413					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAAGACATTGGACCAGAAAAT	0.473																																						uc002kln.2		NA																	0				skin(2)|ovary(1)	3						c.(1237-1239)GAC>AAC		elastin microfibril interfacer 2 precursor							65.0	64.0	64.0					18																	2891362		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891362G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1237G>A	18.37:g.2891362G>A	ENSP00000254528:p.Asp413Asn						p.D413N	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1396	+			413					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.1237G>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447718	0.26074	.	.	ENSG00000132205	ENST00000254528	T	0.03441	3.93	5.38	4.5	0.54988	.	0.327253	0.28742	N	0.014295	T	0.08802	0.0218	M	0.62723	1.935	0.31514	N	0.663268	P	0.50710	0.938	P	0.50270	0.636	T	0.03503	-1.1030	10	0.41790	T	0.15	-25.8718	10.9764	0.47469	0.1497:0.0:0.8503:0.0	.	413	Q9BXX0	EMIL2_HUMAN	N	413	ENSP00000254528:D413N	ENSP00000254528:D413N	D	+	1	0	EMILIN2	2881362	0.997000	0.39634	0.506000	0.27664	0.287000	0.27160	4.035000	0.57297	1.254000	0.44035	0.557000	0.71058	GAC		0.473	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		9	45	0	0	0	0	9	45				
WDR7	23335	broad.mit.edu	37	18	54423844	54423844	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr18:54423844C>T	ENST00000254442.3	+	15	2231	c.2020C>T	c.(2020-2022)Ctg>Ttg	p.L674L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.L674L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	674					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCATAACTCCCTGATGGTTCA	0.308																																						uc002lgk.1		NA																	0				ovary(2)|skin(1)	3						c.(2020-2022)CTG>TTG		rabconnectin-3 beta isoform 1							51.0	51.0	51.0					18																	54423844		2203	4299	6502	SO:0001819	synonymous_variant	23335							g.chr18:54423844C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2020C>T	18.37:g.54423844C>T						WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.L674L	p.L674L	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2231	+			674					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.2020C>T	CCDS11962.1																																																																																				0.308	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			16	64	0	0	0	0	16	64				
PIAS4	51588	broad.mit.edu	37	19	4037462	4037462	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:4037462G>A	ENST00000262971.2	+	10	1348	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	411					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCGAAAAGGAGCGCAGCT	0.687																																						uc002lzg.2		NA																	0				pancreas(1)	1						c.(1231-1233)AAG>AAA		protein inhibitor of activated STAT, 4							23.0	26.0	25.0					19																	4037462		2201	4298	6499	SO:0001819	synonymous_variant	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4037462G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1233G>A	19.37:g.4037462G>A							p.K411K	NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1243	+			411					O75926|Q96G19|Q9UN16	Silent	SNP	ENST00000262971.2	37	c.1233G>A	CCDS12118.1																																																																																				0.687	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		8	31	0	0	0	0	8	31				
CATSPERD	257062	broad.mit.edu	37	19	5733907	5733907	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:5733907C>T	ENST00000381624.3	+	5	378	c.317C>T	c.(316-318)tCg>tTg	p.S106L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	106					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TTTGCTGGTTCGTTATTGCTG	0.313																																						uc002mda.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(316-318)TCG>TTG		transmembrane protein 146 precursor							163.0	157.0	159.0					19																	5733907		1880	4107	5987	SO:0001583	missense	257062					integral to membrane		g.chr19:5733907C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.317C>T	19.37:g.5733907C>T	ENSP00000371037:p.Ser106Leu					TMEM146_uc010duj.1_5'UTR	p.S106L	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			5	378	+			106			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.317C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	c	13.20	2.166774	0.38217	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.30981	1.51	4.37	2.15	0.27550	.	0.748781	0.10372	U	0.682696	T	0.27900	0.0687	L	0.59436	1.845	0.18873	N	0.999989	B	0.25521	0.128	B	0.19946	0.027	T	0.30001	-0.9993	10	0.72032	D	0.01	.	5.426	0.16425	0.1981:0.6955:0.0:0.1065	.	106	Q86XM0	TM146_HUMAN	L	32;106	ENSP00000371037:S106L	ENSP00000371037:S106L	S	+	2	0	TMEM146	5684907	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.523000	0.35932	0.380000	0.24823	-0.141000	0.14075	TCG		0.313	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		10	40	0	0	0	0	10	40				
CD209	30835	broad.mit.edu	37	19	7809868	7809868	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:7809868C>T	ENST00000315599.7	-	5	881	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	CD209_ENST00000602261.1_Missense_Mutation_p.V195M|CD209_ENST00000601951.1_Missense_Mutation_p.V263M|CD209_ENST00000394161.5_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.V243M|CD209_ENST00000315591.8_Missense_Mutation_p.V263M|CD209_ENST00000593660.1_Missense_Mutation_p.V217M|CD209_ENST00000354397.6_Missense_Mutation_p.V287M|CD209_ENST00000593821.1_Missense_Mutation_p.V151M|CD209_ENST00000601256.1_Missense_Mutation_p.V263M|CD209_ENST00000301357.8_Missense_Mutation_p.V151M|CD209_ENST00000394173.4_Missense_Mutation_p.V126M	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	287	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGGCCCCCACTTCTTTGCAG	0.587																																						uc002mht.2		NA																	0				skin(1)	1						c.(859-861)GTG>ATG		CD209 molecule isoform 1							84.0	79.0	81.0					19																	7809868		2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7809868C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.859G>A	19.37:g.7809868C>T	ENSP00000315477:p.Val287Met					CD209_uc010xju.1_Missense_Mutation_p.V126M|CD209_uc010dvp.2_Missense_Mutation_p.V263M|CD209_uc002mhr.2_Missense_Mutation_p.V263M|CD209_uc002mhs.2_Missense_Mutation_p.V217M|CD209_uc002mhu.2_Missense_Mutation_p.V195M|CD209_uc010dvq.2_Missense_Mutation_p.V287M|CD209_uc002mhq.2_Missense_Mutation_p.V287M|CD209_uc002mhv.2_Missense_Mutation_p.V263M|CD209_uc002mhx.2_Missense_Mutation_p.V243M|CD209_uc002mhw.2_Missense_Mutation_p.V151M|CD209_uc010dvr.2_Intron	p.V287M	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			5	926	-			287			Extracellular (Probable).|C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.859G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113576	0.37339	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	3.29	-4.53	0.03462	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.13415	0.0325	N	0.03903	-0.33	0.09310	N	1	B;D;P;D;B;B;D;B;B;B;D	0.69078	0.277;0.995;0.606;0.98;0.034;0.121;0.99;0.315;0.234;0.28;0.997	B;D;P;D;B;B;P;B;B;B;D	0.79108	0.103;0.981;0.656;0.935;0.048;0.262;0.792;0.31;0.14;0.042;0.992	T	0.15263	-1.0443	9	0.46703	T	0.11	.	4.8039	0.13310	0.169:0.2392:0.0:0.5918	.	287;287;263;243;151;263;195;287;217;263;287	B2R907;Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	M	287;287;263;243;195;151;271	ENSP00000315477:V287M;ENSP00000346373:V287M;ENSP00000315407:V263M;ENSP00000204801:V243M;ENSP00000301357:V151M	ENSP00000204801:V243M	V	-	1	0	CD209	7715868	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-2.171000	0.01267	-0.893000	0.03930	0.455000	0.32223	GTG		0.587	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		17	80	0	0	0	0	17	80				
MUC16	94025	broad.mit.edu	37	19	9061995	9061995	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:9061995G>A	ENST00000397910.4	-	3	25654	c.25451C>T	c.(25450-25452)tCc>tTc	p.S8484F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8486	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATAATGGGGGAAGTAGAAAG	0.488																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25450-25452)TCC>TTC		mucin 16							220.0	201.0	207.0					19																	9061995		1964	4155	6119	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061995G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25451C>T	19.37:g.9061995G>A	ENSP00000381008:p.Ser8484Phe						p.S8484F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25655	-			8486			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25451C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.191	0.034104	0.08101	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.78	-0.799	0.10901	.	.	.	.	.	T	0.01592	0.0051	N	0.14661	0.345	.	.	.	P	0.37101	0.582	B	0.31614	0.133	T	0.44997	-0.9291	8	0.87932	D	0	.	3.242	0.06784	0.2748:0.2242:0.501:0.0	.	8484	B5ME49	.	F	8484	ENSP00000381008:S8484F	ENSP00000381008:S8484F	S	-	2	0	MUC16	8922995	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.384000	0.20668	-0.063000	0.13065	0.450000	0.29827	TCC		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		70	205	0	0	0	0	70	205				
ICAM3	3385	broad.mit.edu	37	19	10444126	10444126	+	IGR	SNP	C	C	T	rs529241980	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:10444126C>T	ENST00000160262.5	-	0	1934				RAVER1_ENST00000293677.6_Missense_Mutation_p.E37K	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3						extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCTTCGACTTCGGCCCCAGAC	0.692													C|||	2	0.000399361	0.0	0.0	5008	,	,		10547	0.001		0.0	False		,,,				2504	0.001					uc002moa.2		NA																	0				ovary(1)	1						c.(109-111)GAA>AAA		RAVER1							29.0	36.0	34.0					19																	10444126		1832	4066	5898	SO:0001628	intergenic_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10444126C>T		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942			19.37:g.10444126C>T							p.E37K	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		1	189	-			20					Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	c.109G>A	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	C	35	5.470214	0.96274	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.09630	2.96	4.64	4.64	0.57946	.	0.111909	0.64402	D	0.000018	T	0.18087	0.0434	N	0.19112	0.55	0.41476	D	0.988138	D	0.76494	0.999	D	0.71184	0.972	T	0.09015	-1.0694	10	0.30854	T	0.27	-29.9568	15.4537	0.75297	0.0:1.0:0.0:0.0	.	37	E9PAU2	.	K	37;20	ENSP00000293677:E37K	ENSP00000293677:E37K	E	-	1	0	RAVER1	10305126	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	5.863000	0.69568	2.328000	0.79073	0.549000	0.68633	GAA		0.692	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			26	50	0	0	0	0	26	50				
ZNF442	79973	broad.mit.edu	37	19	12474424	12474424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:12474424C>G	ENST00000242804.4	-	3	604	c.22G>C	c.(22-24)Gac>Cac	p.D8H	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCACTTCTGTCTTCTCCCCCA	0.473																																						uc002mtr.1		NA																	0				large_intestine(2)|breast(1)|kidney(1)	4						c.(22-24)GAC>CAC		zinc finger protein 442							212.0	196.0	201.0					19																	12474424		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12474424C>G	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.22G>C	19.37:g.12474424C>G	ENSP00000242804:p.Asp8His					ZNF442_uc010xmk.1_Intron	p.D8H	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			3	633	-			8					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.22G>C	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	6.506	0.461493	0.12342	.	.	ENSG00000198342	ENST00000242804	T	0.05717	3.4	0.559	-1.12	0.09808	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.32876	0.388	B	0.25140	0.058	T	0.39502	-0.9611	8	0.45353	T	0.12	.	.	.	.	.	8	Q9H7R0	ZN442_HUMAN	H	8	ENSP00000242804:D8H	ENSP00000242804:D8H	D	-	1	0	ZNF442	12335424	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	0.441000	0.21611	-1.114000	0.02977	-1.131000	0.01979	GAC		0.473	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		22	99	0	0	0	0	22	99				
LOC105372277	105372277	broad.mit.edu	37	19	12491594	12491594	+	3'UTR	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:12491594G>A	ENST00000435033.1	-	0	1001																											TCTTAGACAAGAACTGTAATC	0.388																																						uc002mts.3		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(481-483)TCT>TTT		Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.																																				SO:0001624	3_prime_UTR_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12491594G>A																												ENST00000435033.1:c.*657C>T	19.37:g.12491594G>A							p.S161F			Q96GE5	ZN799_HUMAN			4	948	-			267			C2H2-type 5.			Missense_Mutation	SNP	ENST00000435033.1	37	c.482C>T																																																																																					0.388	CTD-3105H18.14-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000344100.1			27	83	0	0	0	0	27	83				
ZSWIM4	65249	broad.mit.edu	37	19	13928082	13928082	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:13928082G>A	ENST00000254323.2	+	7	1422	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ZSWIM4_ENST00000440752.2_Silent_p.G245G|RN7SL619P_ENST00000581753.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	411							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GATGGGTGGGGCACCCCCTGG	0.622																																						uc002mxh.1		NA																	0				central_nervous_system(2)	2						c.(1231-1233)GGG>GGA		zinc finger, SWIM-type containing 4							67.0	67.0	67.0					19																	13928082		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13928082G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1233G>A	19.37:g.13928082G>A						ZSWIM4_uc010xng.1_Silent_p.G334G	p.G411G	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		7	1422	+			411						Silent	SNP	ENST00000254323.2	37	c.1233G>A	CCDS32924.1																																																																																				0.622	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		29	72	0	0	0	0	29	72				
KMT2B	9757	broad.mit.edu	37	19	36228844	36228844	+	Splice_Site	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:36228844G>C	ENST00000222270.7	+	35	7742		c.e35+1		KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000420124.1_Splice_Site	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B						chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTGTCTACAGGTGAGTGGGGT	0.612																																						uc010eei.2		NA																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.e36+1		myeloid/lymphoid or mixed-lineage leukemia 4							55.0	58.0	57.0					19																	36228844		2042	4175	6217	SO:0001630	splice_region_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36228844G>C	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7742+1G>C	19.37:g.36228844G>C							p.R2581_splice	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		36	7742	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)							O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Splice_Site	SNP	ENST00000222270.7	37	c.7742_splice	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628678	0.67015	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9214	0.86165	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AD000671.1	40920684	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.411000	0.80078	2.537000	0.85549	0.563000	0.77884	.		0.612	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	Intron	7	10	0	0	0	0	7	10				
FCGBP	8857	broad.mit.edu	37	19	40368526	40368526	+	Silent	SNP	G	G	A	rs572540106	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40368526G>A	ENST00000221347.6	-	28	12829	c.12822C>T	c.(12820-12822)taC>taT	p.Y4274Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4274	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGGCCCTCGTACTGCTCCA	0.657													G|||	3	0.000599042	0.0	0.0	5008	,	,		15797	0.003		0.0	False		,,,				2504	0.0					uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(12820-12822)TAC>TAT		Fc fragment of IgG binding protein precursor							44.0	45.0	45.0					19																	40368526		2203	4294	6497	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40368526G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12822C>T	19.37:g.40368526G>A							p.Y4274Y	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12830	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4274			VWFD 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.12822C>T	CCDS12546.1																																																																																				0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	80	0	0	0	0	6	80				
MAP3K10	4294	broad.mit.edu	37	19	40704316	40704316	+	Silent	SNP	C	C	T	rs377562938		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40704316C>T	ENST00000253055.3	+	2	1005	c.717C>T	c.(715-717)ctC>ctT	p.L239L	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACCACAACCTCGCAGACACGG	0.647																																						uc002ona.2		NA																	0				ovary(2)|lung(2)|skin(1)|pancreas(1)	6						c.(715-717)CTC>CTT		mitogen-activated protein kinase kinase kinase		C		0,4406		0,0,2203	93.0	77.0	82.0		717	2.7	1.0	19		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAP3K10	NM_002446.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		239/955	40704316	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40704316C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.717C>T	19.37:g.40704316C>T						MAP3K10_uc002onb.2_5'UTR	p.L239L	NM_002446	NP_002437	Q02779	M3K10_HUMAN			2	1005	+			239			Protein kinase.		Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.717C>T	CCDS12549.1																																																																																				0.647	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		14	44	0	0	0	0	14	44				
AKT2	208	broad.mit.edu	37	19	40739814	40739814	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40739814G>A	ENST00000392038.2	-	14	1709	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	AKT2_ENST00000424901.1_Missense_Mutation_p.P471S|AKT2_ENST00000311278.6_Missense_Mutation_p.P428S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	471	AGC-kinase C-terminal.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GAGAACTGGGGGAAGTGGGTC	0.642			A		"""ovarian, pancreatic """																																	uc002onf.2		NA		Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			ovarian|pancreatic 		0				lung(2)	2						c.(1411-1413)CCC>TCC		AKT2 kinase							105.0	74.0	85.0					19																	40739814		2203	4300	6503	SO:0001583	missense	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40739814G>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1411C>T	19.37:g.40739814G>A	ENSP00000375892:p.Pro471Ser					AKT2_uc010egs.2_Missense_Mutation_p.P428S|AKT2_uc010egt.2_Missense_Mutation_p.P409S|AKT2_uc010xvj.1_Missense_Mutation_p.P409S|AKT2_uc002one.2_Missense_Mutation_p.P367S	p.P471S	NM_001626	NP_001617	P31751	AKT2_HUMAN	Lung(22;0.000499)		14	1673	-			471			AGC-kinase C-terminal.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	c.1411C>T	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573656	0.65765	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278	T;T;T	0.56776	0.44;0.44;0.44	5.38	5.38	0.77491	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.055740	0.64402	D	0.000001	T	0.51534	0.1680	L	0.39326	1.205	0.80722	D	1	B;B	0.28933	0.228;0.045	B;B	0.36922	0.236;0.011	T	0.48115	-0.9063	10	0.37606	T	0.19	.	17.8987	0.88897	0.0:0.0:1.0:0.0	.	428;471	Q0VAN0;P31751	.;AKT2_HUMAN	S	471;372;471;428	ENSP00000375892:P471S;ENSP00000399532:P471S;ENSP00000309428:P428S	ENSP00000309428:P428S	P	-	1	0	AKT2	45431654	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.393000	0.79851	2.499000	0.84300	0.305000	0.20034	CCC		0.642	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		10	26	0	0	0	0	10	26				
ZNF224	7767	broad.mit.edu	37	19	44611712	44611712	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:44611712C>T	ENST00000336976.6	+	6	1653	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	467					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAGCTTTAGTCGGGCCCCATG	0.438																																						uc002oyh.1		NA																	0				ovary(2)	2						c.(1399-1401)CGG>TGG		zinc finger protein 224							69.0	73.0	71.0					19																	44611712		2203	4300	6503	SO:0001583	missense	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44611712C>T	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1399C>T	19.37:g.44611712C>T	ENSP00000337368:p.Arg467Trp					uc002oyi.2_RNA	p.R467W	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN			6	1701	+		Prostate(69;0.0435)	467			C2H2-type 11.		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	c.1399C>T	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	c	8.540	0.872972	0.17322	.	.	ENSG00000186019	ENST00000336976	T	0.19806	2.12	3.07	-6.15	0.02105	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15869	0.0382	M	0.63169	1.94	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.28396	-1.0045	9	0.35671	T	0.21	.	3.8033	0.08767	0.4585:0.3405:0.1102:0.0908	.	467	Q9NZL3	ZN224_HUMAN	W	467	ENSP00000337368:R467W	ENSP00000337368:R467W	R	+	1	2	ZNF224	49303552	.	.	0.000000	0.03702	0.594000	0.36715	.	.	-1.521000	0.01771	-1.083000	0.02208	CGG		0.438	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		19	62	0	0	0	0	19	62				
NOVA2	4858	broad.mit.edu	37	19	46443312	46443312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:46443312C>T	ENST00000263257.5	-	4	1482	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	430	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TGGTACTCCACCAACGTCTTG	0.662																																						uc002pdv.2		NA																	0					0						c.(1288-1290)GTG>ATG		neuro-oncological ventral antigen 2							113.0	116.0	115.0					19																	46443312		2203	4300	6503	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46443312C>T	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1288G>A	19.37:g.46443312C>T	ENSP00000263257:p.Val430Met						p.V430M	NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	1336	-		all_neural(266;0.113)|Ovarian(192;0.127)	430			KH 3.		O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.1288G>A	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398681	0.62177	.	.	ENSG00000104967	ENST00000263257	T	0.29142	1.58	3.23	2.16	0.27623	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.407194	0.23196	N	0.050848	T	0.40119	0.1104	L	0.48986	1.54	0.49687	D	0.999816	P	0.39831	0.69	P	0.53185	0.72	T	0.20505	-1.0273	10	0.54805	T	0.06	-1.6165	9.6092	0.39652	0.2106:0.7893:0.0:0.0	.	430	Q9UNW9	NOVA2_HUMAN	M	430	ENSP00000263257:V430M	ENSP00000263257:V430M	V	-	1	0	NOVA2	51135152	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.702000	0.68332	0.708000	0.31955	0.306000	0.20318	GTG		0.662	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		43	124	0	0	0	0	43	124				
AKT1S1	84335	broad.mit.edu	37	19	50374957	50374957	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:50374957C>T	ENST00000391833.1	-	3	2463	c.474G>A	c.(472-474)gaG>gaA	p.E158E	AKT1S1_ENST00000391835.1_Silent_p.E178E|AKT1S1_ENST00000391832.3_Silent_p.E158E|AKT1S1_ENST00000344175.5_Silent_p.E158E|AKT1S1_ENST00000391831.1_Silent_p.E158E|AKT1S1_ENST00000391834.2_Silent_p.E158E	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGGGGGTCTCCTCGCTCAGGC	0.667																																						uc002pql.3		NA																	0					0						c.(472-474)GAG>GAA		AKT1 substrate 1 (proline-rich)							34.0	40.0	38.0					19																	50374957		2202	4299	6501	SO:0001819	synonymous_variant	84335				negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding	g.chr19:50374957C>T	BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"""proline-rich Akt substrate, 40 kDa"""	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.474G>A	19.37:g.50374957C>T						AKT1S1_uc002pqn.3_Silent_p.E158E|AKT1S1_uc002pqm.3_Silent_p.E158E	p.E158E	NM_032375	NP_115751	Q96B36	AKTS1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	4	1200	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	158						Silent	SNP	ENST00000391833.1	37	c.474G>A	CCDS12784.1																																																																																				0.667	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317073.1	NM_032375		26	72	0	0	0	0	26	72				
SHANK1	50944	broad.mit.edu	37	19	51192464	51192464	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:51192464C>T	ENST00000293441.1	-	15	2055	c.2037G>A	c.(2035-2037)cgG>cgA	p.R679R	SHANK1_ENST00000391813.1_Silent_p.R66R|SHANK1_ENST00000359082.3_Silent_p.R670R|SHANK1_ENST00000391814.1_Silent_p.R679R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	679	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCTTGGCCCCCCGGAGCACGA	0.612																																						uc002psx.1		NA																	0				large_intestine(2)	2						c.(2035-2037)CGG>CGA		SH3 and multiple ankyrin repeat domains 1							132.0	112.0	119.0					19																	51192464		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192464C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2037G>A	19.37:g.51192464C>T						SHANK1_uc002psw.1_Silent_p.R63R	p.R679R	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	15	2056	-		all_neural(266;0.057)	679			PDZ.		A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.2037G>A	CCDS12799.1																																																																																				0.612	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		11	94	0	0	0	0	11	94				
TMC4	147798	broad.mit.edu	37	19	54664964	54664964	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:54664964G>A	ENST00000376591.4	-	12	1869	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000416963.1_Missense_Mutation_p.R162C|TMC4_ENST00000301187.4_Missense_Mutation_p.R574C	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	580					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGGAAGGTGCGGGCAGCCGGG	0.562																																						uc010erf.2		NA																	0				pancreas(1)	1						c.(1738-1740)CGC>TGC		transmembrane channel-like 4 isoform 1							19.0	25.0	23.0					19																	54664964		2200	4297	6497	SO:0001583	missense	147798					integral to membrane		g.chr19:54664964G>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1738C>T	19.37:g.54664964G>A	ENSP00000365776:p.Arg580Cys					LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.R294C|TMC4_uc002qdo.2_Missense_Mutation_p.R574C	p.R580C	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			12	1870	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		580			Cytoplasmic (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.1738C>T	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379206	0.82682	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.68479	-0.33;-0.33;-0.33	4.73	4.73	0.59995	.	0.219310	0.45361	D	0.000380	D	0.83977	0.5371	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.997	D	0.87307	0.2309	10	0.87932	D	0	-19.7929	15.0447	0.71819	0.0:0.0:1.0:0.0	.	580;574;162	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	C	574;162;580	ENSP00000301187:R574C;ENSP00000405023:R162C;ENSP00000365776:R580C	ENSP00000301187:R574C	R	-	1	0	TMC4	59356776	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.505000	0.60421	2.383000	0.81215	0.556000	0.70494	CGC		0.562	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			8	19	0	0	0	0	8	19				
ZNF211	10520	broad.mit.edu	37	19	58152875	58152875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:58152875T>C	ENST00000347302.3	+	3	1200	c.1021T>C	c.(1021-1023)Tat>Cat	p.Y341H	ZNF211_ENST00000541801.1_Missense_Mutation_p.Y332H|ZNF211_ENST00000254182.7_Missense_Mutation_p.Y332H|ZNF211_ENST00000544273.1_Missense_Mutation_p.Y353H|ZNF211_ENST00000420680.1_Missense_Mutation_p.Y345H|ZNF211_ENST00000391703.3_Missense_Mutation_p.Y280H|ZNF211_ENST00000299871.5_Missense_Mutation_p.Y406H|ZNF211_ENST00000240731.4_Missense_Mutation_p.Y354H	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAAGGCCTTATGAATGTGG	0.463																																						uc002qpq.2		NA																	0				ovary(2)	2						c.(1021-1023)TAT>CAT		zinc finger protein 211 isoform 2							72.0	73.0	72.0					19																	58152875		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152875T>C	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1021T>C	19.37:g.58152875T>C	ENSP00000339562:p.Tyr341His					ZNF211_uc010yhb.1_Missense_Mutation_p.Y345H|ZNF211_uc002qpp.2_Missense_Mutation_p.Y354H|ZNF211_uc002qpr.2_Missense_Mutation_p.Y405H|ZNF211_uc002qps.2_Missense_Mutation_p.Y406H|ZNF211_uc002qpt.2_Missense_Mutation_p.Y353H|ZNF211_uc010yhc.1_Missense_Mutation_p.Y353H|ZNF211_uc010yhd.1_Missense_Mutation_p.Y280H|ZNF211_uc010yhe.1_Missense_Mutation_p.Y332H	p.Y341H	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1201	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	341			C2H2-type 5.		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.1021T>C	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.58|10.58	1.390752|1.390752	0.25118|0.25118	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T;T;T;T	.|0.21734	.|1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	3.25|3.25	-0.111|-0.111	0.13576|0.13576	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.17831|0.17831	0.0428|0.0428	L|L	0.35249|0.35249	1.045|1.045	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.22746	.|0.035;0.06;0.06;0.06;0.043;0.074	.|B;B;B;B;B;B	.|0.34301	.|0.048;0.112;0.112;0.112;0.079;0.179	T|T	0.40136|0.40136	-0.9579|-0.9579	5|9	.|0.54805	.|T	.|0.06	.|.	7.252|7.252	0.26154|0.26154	0.0:0.3637:0.0:0.6363|0.0:0.3637:0.0:0.6363	.|.	.|345;353;406;332;341;354	.|Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.|.;.;.;.;ZN211_HUMAN;.	S|H	344|345;341;332;280;332;406;353;354	.|ENSP00000399193:Y345H;ENSP00000339562:Y341H;ENSP00000254182:Y332H;ENSP00000375584:Y280H;ENSP00000442601:Y332H;ENSP00000299871:Y406H;ENSP00000441386:Y353H;ENSP00000240731:Y354H	.|ENSP00000240731:Y354H	L|Y	+|+	2|1	0|0	ZNF211|ZNF211	62844687|62844687	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.878000|0.878000	0.50629|0.50629	0.696000|0.696000	0.25541|0.25541	0.065000|0.065000	0.16485|0.16485	0.467000|0.467000	0.42956|0.42956	TTA|TAT		0.463	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			17	56	0	0	0	0	17	56				
NOL10	79954	broad.mit.edu	37	2	10729194	10729194	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:10729194A>T	ENST00000381685.5	-	19	1924	c.1819T>A	c.(1819-1821)Tct>Act	p.S607T	NOL10_ENST00000538384.1_Missense_Mutation_p.S581T|NOL10_ENST00000345985.3_Missense_Mutation_p.S557T|NOL10_ENST00000542668.1_Missense_Mutation_p.S557T|AC092687.5_ENST00000414538.1_RNA	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	607						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTGTGGCAGAATCTTTGAAG	0.478																																						uc002raq.2		NA																	0					0						c.(1819-1821)TCT>ACT		nucleolar protein 10							145.0	154.0	151.0					2																	10729194		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10729194A>T	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1819T>A	2.37:g.10729194A>T	ENSP00000371101:p.Ser607Thr					NOL10_uc010yje.1_Missense_Mutation_p.S581T|NOL10_uc010yjf.1_Missense_Mutation_p.S557T|NOL10_uc002rap.2_Missense_Mutation_p.S557T	p.S607T	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	19	1944	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		607					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.1819T>A	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	A	10.19	1.282248	0.23392	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.44083	0.93;2.12;1.53;2.12	5.35	5.35	0.76521	.	0.310433	0.36338	N	0.002646	T	0.29158	0.0725	L	0.34521	1.04	0.32285	N	0.567015	B;B;B	0.11235	0.004;0.004;0.0	B;B;B	0.08055	0.002;0.003;0.003	T	0.27806	-1.0063	10	0.29301	T	0.29	-5.3758	7.6062	0.28103	0.7155:0.1453:0.0:0.1393	.	581;607;557	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	T	557;607;557;581	ENSP00000263837:S557T;ENSP00000371101:S607T;ENSP00000437625:S557T;ENSP00000439663:S581T	ENSP00000263837:S557T	S	-	1	0	NOL10	10646645	0.989000	0.36119	0.708000	0.30435	0.975000	0.68041	2.516000	0.45520	2.155000	0.67459	0.482000	0.46254	TCT		0.478	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		65	80	0	0	0	0	65	80				
HADHB	3032	broad.mit.edu	37	2	26500001	26500001	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:26500001A>G	ENST00000317799.5	+	7	519	c.415A>G	c.(415-417)Atc>Gtc	p.I139V	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.I139V|HADHB_ENST00000537713.1_Missense_Mutation_p.I124V|HADHB_ENST00000545822.1_Missense_Mutation_p.I117V	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	139					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGGCTTGTATCTCTGCCAA	0.403																																						uc002rgz.2		NA																	0				ovary(1)|breast(1)	2						c.(415-417)ATC>GTC		mitochondrial trifunctional protein, beta							61.0	56.0	58.0					2																	26500001		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26500001A>G		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.415A>G	2.37:g.26500001A>G	ENSP00000325136:p.Ile139Val					HADHB_uc010ykv.1_Missense_Mutation_p.I117V|HADHB_uc010ykw.1_Missense_Mutation_p.I124V|HADHB_uc002rha.2_Missense_Mutation_p.I139V|HADHB_uc010ykx.1_Missense_Mutation_p.I65V	p.I139V	NM_000183	NP_000174	P55084	ECHB_HUMAN			7	666	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		139					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.415A>G	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567165	0.86439	.	.	ENSG00000138029	ENST00000448743;ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822;ENST00000425035	D;D;D;D;D;D	0.90444	-2.25;-2.25;-2.67;-2.25;-2.25;-2.25	5.9	5.9	0.94986	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.95303	0.8476	M	0.87180	2.865	0.80722	D	1	D;P;P;D	0.64830	0.993;0.924;0.917;0.994	P;D;P;D	0.64237	0.873;0.923;0.842;0.923	D	0.95164	0.8284	10	0.45353	T	0.12	-19.7782	15.1485	0.72677	1.0:0.0:0.0:0.0	.	124;117;139;139	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	V	139;139;139;124;117;139	ENSP00000415300:I139V;ENSP00000325136:I139V;ENSP00000385411:I139V;ENSP00000444295:I124V;ENSP00000442665:I117V;ENSP00000404633:I139V	ENSP00000325136:I139V	I	+	1	0	HADHB	26353505	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.288000	0.96055	2.254000	0.74563	0.460000	0.39030	ATC		0.403	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		14	19	0	0	0	0	14	19				
SRD5A2	6716	broad.mit.edu	37	2	31805805	31805805	+	RNA	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:31805805G>T	ENST00000405650.1	-	0	331							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process (GO:0006702)|androgen metabolic process (GO:0008209)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|male gonad development (GO:0008584)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|sterol 5-alpha reductase activity (GO:0009917)					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	GGCAGCTCCTGCAGGAACCAG	0.706																																						uc002rnw.1		NA																	0					0						c.(166-168)CAG>AAG		3-oxo-5 alpha-steroid 4-dehydrogenase 2	Azelaic Acid(DB00548)|Dutasteride(DB01126)						14.0	18.0	17.0					2																	31805805		1924	4107	6031			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31805805G>T	M74047	CCDS74503.1	2p23.1	2013-01-31			ENSG00000049319	ENSG00000277893	1.3.99.5		11285	protein-coding gene	gene with protein product		607306				1522235	Standard	NM_000348		Approved		uc002rnw.1	P31213	OTTHUMG00000152057		2.37:g.31805805G>T							p.Q56K	NM_000348	NP_000339	P31213	S5A2_HUMAN			2	237	-	Acute lymphoblastic leukemia(172;0.155)		56					B2RE87|Q2M1R4|Q9BYE6	Missense_Mutation	SNP	ENST00000405650.1	37	c.166C>A																																																																																					0.706	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000325124.1	NM_000348		22	13	1	0	1.18e-14	3.24e-14	22	13				
MAP4K3	8491	broad.mit.edu	37	2	39494353	39494353	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:39494353T>C	ENST00000263881.3	-	27	2333	c.2009A>G	c.(2008-2010)aAa>aGa	p.K670R	MAP4K3_ENST00000536018.1_Missense_Mutation_p.K223R|MAP4K3_ENST00000437545.1_Missense_Mutation_p.K586R|MAP4K3_ENST00000341681.5_Missense_Mutation_p.K649R	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	670	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTGGCACCATTTGGTTTCAGG	0.368																																						uc002rro.2		NA																	0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(2008-2010)AAA>AGA		mitogen-activated protein kinase kinase kinase							132.0	132.0	132.0					2																	39494353		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39494353T>C	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2009A>G	2.37:g.39494353T>C	ENSP00000263881:p.Lys670Arg					MAP4K3_uc002rrp.2_Missense_Mutation_p.K649R|MAP4K3_uc010yns.1_Missense_Mutation_p.K223R	p.K670R	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			27	2100	-		all_hematologic(82;0.211)	670			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.2009A>G	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630053	0.67015	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	5.18	5.18	0.71444	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	L	0.45744	1.44	0.80722	D	1	P;B	0.34892	0.474;0.329	P;B	0.46510	0.519;0.4	T	0.02196	-1.1197	10	0.45353	T	0.12	.	15.3466	0.74343	0.0:0.0:0.0:1.0	.	649;670	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	R	670;586;649;223	ENSP00000263881:K670R;ENSP00000416958:K586R;ENSP00000345434:K649R;ENSP00000440580:K223R	ENSP00000263881:K670R	K	-	2	0	MAP4K3	39347857	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.565000	0.82337	2.084000	0.62774	0.533000	0.62120	AAA		0.368	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		33	44	0	0	0	0	33	44				
TET3	200424	broad.mit.edu	37	2	74328683	74328683	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:74328683G>A	ENST00000409262.3	+	9	4363	c.4363G>A	c.(4363-4365)Gag>Aag	p.E1455K		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1455					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGATCCAGCGAGAAGCTGTT	0.652																																						uc002skb.3		NA																	0					0						c.(4363-4365)GAG>AAG		tet oncogene family member 3							12.0	14.0	14.0					2																	74328683		1890	4102	5992	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74328683G>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4363G>A	2.37:g.74328683G>A	ENSP00000386869:p.Glu1455Lys						p.E1455K	NM_144993	NP_659430	O43151	TET3_HUMAN			9	4363	+			1455					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.4363G>A	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980727	0.18812	.	.	ENSG00000187605	ENST00000409262	T	0.11277	2.79	3.98	3.98	0.46160	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.437004	0.24991	N	0.033999	T	0.05914	0.0154	N	0.22421	0.69	0.38994	D	0.959215	B	0.30973	0.302	B	0.26094	0.066	T	0.35425	-0.9789	10	0.13853	T	0.58	.	7.7622	0.28959	0.1112:0.0:0.8888:0.0	.	1455	O43151	TET3_HUMAN	K	1455	ENSP00000386869:E1455K	ENSP00000386869:E1455K	E	+	1	0	TET3	74182191	0.010000	0.17322	0.943000	0.38184	0.566000	0.35808	0.477000	0.22196	2.521000	0.84997	0.591000	0.81541	GAG		0.652	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			6	15	0	0	0	0	6	15				
EVA1A	84141	broad.mit.edu	37	2	75720729	75720729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:75720729G>A	ENST00000233712.1	-	4	529	c.92C>T	c.(91-93)cCt>cTt	p.P31L	EVA1A_ENST00000410071.1_Missense_Mutation_p.P31L|EVA1A_ENST00000410113.1_Missense_Mutation_p.P31L|EVA1A_ENST00000393913.3_Missense_Mutation_p.P31L|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410010.1_Missense_Mutation_p.P19L	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	31	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											TGCTCGCTCAGGATTTTCTGG	0.517																																						uc002sni.2		NA																	0					0						c.(91-93)CCT>CTT		family with sequence similarity 176, member A							23.0	23.0	23.0					2																	75720729		2203	4300	6503	SO:0001583	missense	84141				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		g.chr2:75720729G>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.92C>T	2.37:g.75720729G>A	ENSP00000233712:p.Pro31Leu					FAM176A_uc002snj.1_Missense_Mutation_p.P18L|FAM176A_uc002snk.1_Missense_Mutation_p.P31L	p.P31L	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN			4	570	-			31			Necessary for the localization and biological activity.		D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	c.92C>T	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543384	0.65198	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.9	4.02	0.46733	.	0.046217	0.85682	D	0.000000	T	0.71913	0.3396	M	0.82193	2.58	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	T	0.76971	-0.2761	10	0.62326	D	0.03	-3.1723	13.8185	0.63306	0.0:0.1552:0.8448:0.0	.	31	Q9H8M9	F176A_HUMAN	L	31;31;31;19;31;31;31	ENSP00000377490:P31L;ENSP00000233712:P31L;ENSP00000386435:P31L;ENSP00000386835:P19L;ENSP00000386930:P31L;ENSP00000398249:P31L;ENSP00000388105:P31L	ENSP00000233712:P31L	P	-	2	0	FAM176A	75574237	1.000000	0.71417	0.971000	0.41717	0.814000	0.46013	7.710000	0.84655	1.354000	0.45846	0.650000	0.86243	CCT		0.517	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		15	18	0	0	0	0	15	18				
SULT1C3	442038	broad.mit.edu	37	2	108881304	108881304	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:108881304G>C	ENST00000329106.2	+	6	645	c.645G>C	c.(643-645)aaG>aaC	p.K215N		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	215					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAATTGAGAAGATACTGAAGT	0.398																																						uc010ywo.1		NA																	0				skin(1)	1						c.(643-645)AAG>AAC		sulfotransferase family, cytosolic, 1C, member							76.0	73.0	74.0					2																	108881304		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108881304G>C	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.645G>C	2.37:g.108881304G>C	ENSP00000333310:p.Lys215Asn						p.K215N	NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN			6	645	+			215			PAPS.		Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.645G>C	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242401	0.58995	.	.	ENSG00000196228	ENST00000329106	T	0.02258	4.37	4.9	3.09	0.35607	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000010	T	0.14313	0.0346	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00117	-1.2035	10	0.87932	D	0	.	7.7578	0.28933	0.2551:0.0:0.7449:0.0	.	215	Q6IMI6	ST1C3_HUMAN	N	215	ENSP00000333310:K215N	ENSP00000333310:K215N	K	+	3	2	SULT1C3	108247736	1.000000	0.71417	0.761000	0.31378	0.968000	0.65278	2.012000	0.40932	0.654000	0.30846	0.655000	0.94253	AAG		0.398	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		6	29	0	0	0	0	6	29				
NPHP1	4867	broad.mit.edu	37	2	110962526	110962526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:110962526C>A	ENST00000393272.3	-	1	117	c.20G>T	c.(19-21)cGa>cTa	p.R7L	NPHP1_ENST00000445609.2_Missense_Mutation_p.R7L|NPHP1_ENST00000355301.4_Missense_Mutation_p.R7L|NPHP1_ENST00000417665.1_Missense_Mutation_p.R7L|NPHP1_ENST00000316534.4_Missense_Mutation_p.R7L|NPHP1_ENST00000418527.1_Missense_Mutation_p.R7L	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	7					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GAGAGGATCTCGCTGTCGTCT	0.662																																						uc002tfn.3		NA																	0				ovary(2)	2						c.(19-21)CGA>CTA		nephrocystin 1 isoform 2							44.0	43.0	44.0					2																	110962526		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110962526C>A	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.20G>T	2.37:g.110962526C>A	ENSP00000376953:p.Arg7Leu					NPHP1_uc002tfm.3_Missense_Mutation_p.R7L|NPHP1_uc002tfl.3_Missense_Mutation_p.R7L|NPHP1_uc002tfo.3_Missense_Mutation_p.R7L|NPHP1_uc010ywx.1_Missense_Mutation_p.R7L|NPHP1_uc010fjv.1_Missense_Mutation_p.R7L|NPHP1_uc002tfp.2_Missense_Mutation_p.R7L	p.R7L	NM_207181	NP_997064	O15259	NPHP1_HUMAN			1	114	-			7			Potential.		O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.20G>T	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268567	0.59540	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665;ENST00000418527	T;T;T;T;T	0.66099	-0.05;-0.02;-0.05;-0.19;-0.01	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.66939	2.045	0.19300	N	0.999972	D;D;D;P;D;D;D	0.89917	1.0;1.0;0.996;0.785;0.995;1.0;1.0	D;D;D;P;P;D;D	0.87578	0.956;0.995;0.992;0.481;0.891;0.98;0.998	T	0.68580	-0.5371	10	0.72032	D	0.01	-12.9503	13.5129	0.61524	0.0:1.0:0.0:0.0	.	7;7;7;7;7;7;7	B4DQY0;C9JNM7;C9J082;O15259-3;O15259;O15259-2;O15259-4	.;.;.;.;NPHP1_HUMAN;.;.	L	7	ENSP00000313169:R7L;ENSP00000389879:R7L;ENSP00000376953:R7L;ENSP00000347452:R7L;ENSP00000402176:R7L	ENSP00000313169:R7L	R	-	2	0	NPHP1	110319815	0.374000	0.25081	0.047000	0.18901	0.274000	0.26718	3.467000	0.53078	2.572000	0.86782	0.557000	0.71058	CGA		0.662	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		5	48	1	0	2.77e-08	7.46e-08	5	48				
PLA2R1	22925	broad.mit.edu	37	2	160832579	160832579	+	Splice_Site	SNP	C	C	T	rs543739690		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:160832579C>T	ENST00000283243.7	-	17	2801	c.2595G>A	c.(2593-2595)gcG>gcA	p.A865A	PLA2R1_ENST00000392771.1_Splice_Site_p.A865A	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	865	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTTCAAGTACCGCTTTTATTT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		16807	0.0		0.0	False		,,,				2504	0.001					uc002ube.1		NA																	0				skin(2)|ovary(1)	3						c.(2593-2595)GCG>GCA		phospholipase A2 receptor 1 isoform 1 precursor							153.0	145.0	148.0					2																	160832579		2203	4300	6503	SO:0001630	splice_region_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160832579C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2595+1G>A	2.37:g.160832579C>T						PLA2R1_uc010zcp.1_Silent_p.A865A|PLA2R1_uc002ubf.2_Silent_p.A865A	p.A865A	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			17	2802	-			865			Extracellular (Potential).|C-type lectin 5.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.2595G>A	CCDS33309.1																																																																																				0.413	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		Silent	26	43	0	0	0	0	26	43				
UBR3	130507	broad.mit.edu	37	2	170917856	170917856	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:170917856C>T	ENST00000272793.5	+	35	4972	c.4922C>T	c.(4921-4923)tCc>tTc	p.S1641F	UBR3_ENST00000418381.1_Missense_Mutation_p.S1641F|UBR3_ENST00000392631.1_Missense_Mutation_p.S462F			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1641					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCTCCTGAATCCATGGAAAAA	0.368																																						uc010zdi.1		NA																	0					0						c.(4921-4923)TCC>TTC		E3 ubiquitin-protein ligase UBR3							155.0	156.0	155.0					2																	170917856		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170917856C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4922C>T	2.37:g.170917856C>T	ENSP00000272793:p.Ser1641Phe					UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.S462F|UBR3_uc002uft.3_Missense_Mutation_p.S498F|UBR3_uc010zdj.1_Missense_Mutation_p.S332F|UBR3_uc002ufu.3_Missense_Mutation_p.S147F	p.S1641F	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN			35	4922	+			1641					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.4922C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.597092|3.597092	0.66332|0.66332	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000392632|ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	.|T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72	5.92|5.92	3.96|3.96	0.45880|0.45880	.|.	.|0.150822	.|0.64402	.|D	.|0.000008	T|T	0.54143|0.54143	0.1840|0.1840	M|M	0.61703|0.61703	1.905|1.905	0.32421|0.32421	N|N	0.549307|0.549307	.|P;P;B	.|0.50617	.|0.567;0.937;0.053	.|B;P;B	.|0.53809	.|0.229;0.735;0.019	T|T	0.61407|0.61407	-0.7069|-0.7069	5|10	.|0.20046	.|T	.|0.44	.|.	12.546|12.546	0.56199|0.56199	0.1252:0.8066:0.0:0.0682|0.1252:0.8066:0.0:0.0682	.|.	.|1641;462;1670	.|Q6ZT12;Q6ZT12-2;E7EVK3	.|UBR3_HUMAN;.;.	S|F	703|1641;1670;1641;462;341	.|ENSP00000272793:S1641F;ENSP00000396068:S1641F;ENSP00000376408:S462F;ENSP00000389097:S341F	.|ENSP00000272793:S1641F	P|S	+|+	1|2	0|0	UBR3|UBR3	170626102|170626102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	3.997000|3.997000	0.57016|0.57016	1.512000|1.512000	0.48834|0.48834	-0.143000|-0.143000	0.13931|0.13931	CCA|TCC		0.368	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		45	77	0	0	0	0	45	77				
MYO3B	140469	broad.mit.edu	37	2	171243774	171243774	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:171243774C>G	ENST00000408978.4	+	14	1676	c.1533C>G	c.(1531-1533)atC>atG	p.I511M	MYO3B_ENST00000409044.3_Missense_Mutation_p.I511M|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.I520M	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	511	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGCAAGAATCTCTGAATATC	0.428																																						uc002ufy.2		NA																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(1531-1533)ATC>ATG		myosin IIIB isoform 2							85.0	82.0	83.0					2																	171243774		1884	4130	6014	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171243774C>G		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1533C>G	2.37:g.171243774C>G	ENSP00000386213:p.Ile511Met					MYO3B_uc002ufv.2_Missense_Mutation_p.I498M|MYO3B_uc010fqb.1_Missense_Mutation_p.I498M|MYO3B_uc002ufz.2_Missense_Mutation_p.I511M|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	p.I511M	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			14	1676	+			511			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1533C>G	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183977	0.57800	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.9	2.8	0.32819	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92890	0.7738	M	0.78801	2.425	0.43448	D	0.995632	D;P;D	0.76494	0.999;0.92;0.999	D;P;D	0.79108	0.99;0.61;0.992	D	0.89089	0.3481	10	0.45353	T	0.12	.	2.4883	0.04604	0.2303:0.2352:0.0:0.5345	.	511;511;511	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	M	511;511;510;520;520	ENSP00000386497:I511M;ENSP00000386213:I511M;ENSP00000446237:I520M;ENSP00000335100:I520M	ENSP00000314213:I510M	I	+	3	3	MYO3B	170952020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.751000	0.26348	0.327000	0.23409	0.563000	0.77884	ATC		0.428	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			23	64	0	0	0	0	23	64				
MYO3B	140469	broad.mit.edu	37	2	171243784	171243784	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:171243784C>G	ENST00000408978.4	+	14	1686	c.1543C>G	c.(1543-1545)Ctc>Gtc	p.L515V	MYO3B_ENST00000409044.3_Missense_Mutation_p.L515V|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.L524V	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	515	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCTGAATATCTCCTGGAAAA	0.413																																						uc002ufy.2		NA																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(1543-1545)CTC>GTC		myosin IIIB isoform 2							79.0	76.0	77.0					2																	171243784		1882	4134	6016	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171243784C>G		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1543C>G	2.37:g.171243784C>G	ENSP00000386213:p.Leu515Val					MYO3B_uc002ufv.2_Missense_Mutation_p.L502V|MYO3B_uc010fqb.1_Missense_Mutation_p.L502V|MYO3B_uc002ufz.2_Missense_Mutation_p.L515V|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	p.L515V	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			14	1686	+			515			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1543C>G	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749657	0.89753	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.9	5.9	0.94986	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94398	0.8198	H	0.99626	4.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.96470	0.9348	10	0.87932	D	0	.	20.2723	0.98479	0.0:1.0:0.0:0.0	.	515;515;515	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	V	515;515;514;524;524	ENSP00000386497:L515V;ENSP00000386213:L515V;ENSP00000446237:L524V;ENSP00000335100:L524V	ENSP00000314213:L514V	L	+	1	0	MYO3B	170952030	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.055000	0.71103	2.793000	0.96121	0.563000	0.77884	CTC		0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			24	57	0	0	0	0	24	57				
MAP2	4133	broad.mit.edu	37	2	210543343	210543343	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:210543343G>T	ENST00000360351.4	+	5	816	c.310G>T	c.(310-312)Gca>Tca	p.A104S	MAP2_ENST00000392194.1_Missense_Mutation_p.A104S|MAP2_ENST00000447185.1_Missense_Mutation_p.A104S|MAP2_ENST00000361559.4_Missense_Mutation_p.A104S|MAP2_ENST00000199940.6_Missense_Mutation_p.A104S	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	104					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGAGGCTGTAGCAGTCCTGAA	0.413																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(310-312)GCA>TCA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						118.0	111.0	113.0					2																	210543343		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210543343G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.310G>T	2.37:g.210543343G>T	ENSP00000353508:p.Ala104Ser					MAP2_uc002vdc.1_Missense_Mutation_p.A104S|MAP2_uc002vdd.1_Missense_Mutation_p.A104S|MAP2_uc002vdf.1_Missense_Mutation_p.A104S|MAP2_uc002vdg.1_Missense_Mutation_p.A104S|MAP2_uc002vdh.1_Missense_Mutation_p.A104S|MAP2_uc002vdi.1_Missense_Mutation_p.A104S	p.A104S	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	5	558	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	104					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.310G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075348	0.94000	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T;T	0.59906	1.93;0.23;1.93;1.93;1.93;1.93;1.93;1.93	5.06	5.06	0.68205	.	0.000000	0.53938	D	0.000052	T	0.64204	0.2577	N	0.24115	0.695	0.52501	D	0.999958	D;D;D;D;D;P	0.89917	1.0;0.996;0.995;0.993;1.0;0.951	D;D;D;D;D;P	0.87578	0.998;0.99;0.978;0.968;0.996;0.501	T	0.61544	-0.7041	10	0.25106	T	0.35	-16.5297	18.4525	0.90709	0.0:0.0:1.0:0.0	.	104;104;105;104;104;104	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	S	104;104;104;104;104;104;104;30	ENSP00000199940:A104S;ENSP00000376031:A104S;ENSP00000353508:A104S;ENSP00000355290:A104S;ENSP00000409969:A104S;ENSP00000376032:A104S;ENSP00000392164:A104S;ENSP00000388824:A30S	ENSP00000199940:A104S	A	+	1	0	MAP2	210251588	1.000000	0.71417	0.984000	0.44739	0.979000	0.70002	8.277000	0.89896	2.324000	0.78689	0.655000	0.94253	GCA		0.413	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		30	44	1	0	3.17e-13	8.69e-13	30	44				
DGKD	8527	broad.mit.edu	37	2	234354353	234354353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:234354353C>T	ENST00000264057.2	+	11	1291	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.Q383*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	427	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGACGACACCCAGCTCCCCCA	0.607																																						uc002vui.1		NA																	0				central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(1279-1281)CAG>TAG		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						66.0	61.0	63.0					2																	234354353		2203	4300	6503	SO:0001587	stop_gained	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234354353C>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1279C>T	2.37:g.234354353C>T	ENSP00000264057:p.Gln427*					DGKD_uc002vuj.1_Nonsense_Mutation_p.Q383*|DGKD_uc010fyh.1_Nonsense_Mutation_p.Q294*|DGKD_uc010fyi.1_RNA	p.Q427*	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	11	1291	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	427			DAGKc.		Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	ENST00000264057.2	37	c.1279C>T	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126912	0.77549	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	17.7858	0.88538	0.0:1.0:0.0:0.0	.	.	.	.	X	427;383	.	ENSP00000264057:Q427X	Q	+	1	0	DGKD	234019092	1.000000	0.71417	0.995000	0.50966	0.418000	0.31294	7.651000	0.83577	2.516000	0.84829	0.563000	0.77884	CAG		0.607	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		28	40	0	0	0	0	28	40				
HDAC4	9759	broad.mit.edu	37	2	240036972	240036972	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:240036972G>A	ENST00000345617.3	-	13	2344	c.1553C>T	c.(1552-1554)cCg>cTg	p.P518L	HDAC4_ENST00000541256.1_Missense_Mutation_p.P492L|HDAC4_ENST00000543185.1_Missense_Mutation_p.P102L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	518					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTGGCTCTCCGGCTGCCGGGC	0.652																																						uc002vyk.3		NA																	0				breast(3)|skin(2)|ovary(1)	6						c.(1552-1554)CCG>CTG		histone deacetylase 4							38.0	46.0	44.0					2																	240036972		2203	4296	6499	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240036972G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1553C>T	2.37:g.240036972G>A	ENSP00000264606:p.Pro518Leu					HDAC4_uc010fyz.1_Missense_Mutation_p.P513L|HDAC4_uc010zoa.1_Missense_Mutation_p.P518L|HDAC4_uc010fza.2_Missense_Mutation_p.P523L|HDAC4_uc010fyy.2_Missense_Mutation_p.P475L|HDAC4_uc010znz.1_Missense_Mutation_p.P401L	p.P518L	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	13	2345	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	518					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.1553C>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725667	0.48833	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.66638	1.09;-0.22;1.09	4.99	2.89	0.33648	.	0.102167	0.64402	D	0.000003	T	0.63977	0.2557	L	0.61218	1.895	0.53688	D	0.999972	B;B;D;P;P;B	0.56968	0.023;0.042;0.978;0.955;0.635;0.012	B;B;P;B;B;B	0.48400	0.01;0.02;0.576;0.441;0.079;0.005	T	0.63028	-0.6728	9	.	.	.	.	6.1372	0.20239	0.0989:0.0:0.4979:0.4033	.	518;401;492;492;486;518	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	518;406;102;492;401	ENSP00000264606:P518L;ENSP00000440481:P102L;ENSP00000443057:P492L	.	P	-	2	0	HDAC4	239701909	0.997000	0.39634	0.910000	0.35882	0.088000	0.18126	2.643000	0.46604	1.248000	0.43934	0.655000	0.94253	CCG		0.652	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		31	53	0	0	0	0	31	53				
NSFL1C	55968	broad.mit.edu	37	20	1433208	1433208	+	Missense_Mutation	SNP	G	G	A	rs201890755		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:1433208G>A	ENST00000216879.4	-	7	1582	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	NSFL1C_ENST00000476071.1_Missense_Mutation_p.R241W|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R128W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R208W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R241W|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	239	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCCTCGTCCCGATGGTCCTCC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19152	0.001		0.0	False		,,,				2504	0.0					uc002wfc.2		NA																	0					0						c.(715-717)CGG>TGG		p47 protein isoform a							178.0	158.0	165.0					20																	1433208		2203	4300	6503	SO:0001583	missense	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433208G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.715C>T	20.37:g.1433208G>A	ENSP00000216879:p.Arg239Trp					NSFL1C_uc002wfd.2_Missense_Mutation_p.R128W|NSFL1C_uc002wfe.2_Missense_Mutation_p.R208W|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Missense_Mutation_p.R5W	p.R239W	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN			7	1663	-			239			SEP.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.715C>T	CCDS13015.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.40	3.820806	0.71028	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.52057	0.68;0.7;0.7;0.7;0.7	5.13	5.13	0.70059	SEP domain (4);	0.000000	0.85682	D	0.000000	T	0.70307	0.3209	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	T	0.73445	-0.3980	10	0.87932	D	0	-15.8878	17.2951	0.87168	0.0:0.0:1.0:0.0	.	208;128;239	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	W	208;241;239;128;241	ENSP00000338643:R208W;ENSP00000418529:R241W;ENSP00000216879:R239W;ENSP00000371074:R128W;ENSP00000202584:R241W	ENSP00000216879:R239W	R	-	1	2	NSFL1C	1381208	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.172000	0.58243	2.824000	0.97209	0.655000	0.94253	CGG		0.572	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		55	144	0	0	0	0	55	144				
SIRPA	140885	broad.mit.edu	37	20	1895762	1895762	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:1895762G>A	ENST00000358771.4	+	2	249	c.97G>A	c.(97-99)Gag>Aag	p.E33K	SIRPA_ENST00000400068.3_Missense_Mutation_p.E33K|SIRPA_ENST00000356025.3_Missense_Mutation_p.E33K	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	33	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGGTGAGGAGGAGCTGCAGGT	0.527																																					GBM(155;1668 1920 5945 42733 48121)	uc002wfq.2		NA																	0				ovary(1)	1						c.(97-99)GAG>AAG		signal-regulatory protein alpha precursor							41.0	40.0	40.0					20																	1895762		2202	4286	6488	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1895762G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.97G>A	20.37:g.1895762G>A	ENSP00000351621:p.Glu33Lys					SIRPA_uc010zps.1_Intron|SIRPA_uc002wfr.2_Missense_Mutation_p.E33K|SIRPA_uc002wfs.2_Missense_Mutation_p.E33K|SIRPA_uc002wft.2_Missense_Mutation_p.E33K	p.E33K	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	457	+			33			Ig-like V-type.|Extracellular (Potential).		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.97G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404865	0.25378	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.09255	3.0;3.0;3.0	4.36	2.37	0.29283	Immunoglobulin-like (1);	0.287190	0.30126	N	0.010352	T	0.12944	0.0314	M	0.71206	2.165	0.25613	N	0.986479	B;B	0.12630	0.003;0.006	B;B	0.20384	0.004;0.029	T	0.18524	-1.0334	10	0.66056	D	0.02	.	6.8981	0.24267	0.2054:0.0:0.7946:0.0	.	33;33	P78324-2;P78324	.;SHPS1_HUMAN	K	33	ENSP00000382941:E33K;ENSP00000348307:E33K;ENSP00000351621:E33K	ENSP00000348307:E33K	E	+	1	0	SIRPA	1843762	0.002000	0.14202	0.522000	0.27862	0.404000	0.30871	0.965000	0.29319	0.474000	0.27392	0.555000	0.69702	GAG		0.527	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		11	15	0	0	0	0	11	15				
CST1	1469	broad.mit.edu	37	20	23731395	23731395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:23731395C>T	ENST00000304749.2	-	1	179	c.109G>A	c.(109-111)Gca>Aca	p.A37T	CST1_ENST00000398402.1_Missense_Mutation_p.A37T	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	37					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TTGAGGTCTGCGTTATAGATG	0.572																																						uc002wtp.2		NA																	0				ovary(1)	1						c.(109-111)GCA>ACA		cystatin SN precursor							154.0	130.0	138.0					20																	23731395		2203	4300	6503	SO:0001583	missense	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23731395C>T	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.109G>A	20.37:g.23731395C>T	ENSP00000305731:p.Ala37Thr						p.A37T	NM_001898	NP_001889	P01037	CYTN_HUMAN			1	180	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		37					Q96LE6|Q9UCQ6	Missense_Mutation	SNP	ENST00000304749.2	37	c.109G>A	CCDS13160.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880935	0.33255	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.27720	1.65;1.65	2.13	1.12	0.20585	Proteinase inhibitor I25, cystatin (2);	0.514144	0.18838	N	0.129760	T	0.22513	0.0543	M	0.71581	2.175	0.09310	N	1	P	0.45634	0.863	B	0.32533	0.147	T	0.18429	-1.0337	10	0.41790	T	0.15	.	4.6952	0.12800	0.0:0.794:0.0:0.206	.	37	P01037	CYTN_HUMAN	T	37	ENSP00000305731:A37T;ENSP00000381439:A37T	ENSP00000305731:A37T	A	-	1	0	CST1	23679395	0.002000	0.14202	0.004000	0.12327	0.044000	0.14063	1.158000	0.31737	0.199000	0.20427	0.184000	0.17185	GCA		0.572	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		10	50	0	0	0	0	10	50				
CNBD2	140894	broad.mit.edu	37	20	34596243	34596243	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:34596243A>G	ENST00000373973.3	+	9	1168	c.995A>G	c.(994-996)aAg>aGg	p.K332R	CNBD2_ENST00000349339.1_Missense_Mutation_p.K332R|CNBD2_ENST00000538900.1_Missense_Mutation_p.K332R			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	332																	GAAAGATTTAAGGAATTCCAG	0.408																																						uc002xes.1		NA																	0					0						c.(994-996)AAG>AGG		SubName: Full=C20orf152 protein;							100.0	113.0	109.0					20																	34596243		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34596243A>G	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.995A>G	20.37:g.34596243A>G	ENSP00000363084:p.Lys332Arg					C20orf152_uc002xer.1_Missense_Mutation_p.K332R|C20orf152_uc010gfp.1_RNA	p.K332R			Q96M20	CT152_HUMAN			9	1151	+	Breast(12;0.00631)		332					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.995A>G		.	.	.	.	.	.	.	.	.	.	A	9.250	1.040479	0.19669	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.13657	2.58;2.58;2.57	5.03	1.6	0.23607	Cyclic nucleotide-binding-like (1);	0.416345	0.24766	N	0.035764	T	0.13670	0.0331	M	0.64997	1.995	0.26405	N	0.976351	B;B	0.21821	0.017;0.061	B;B	0.26094	0.015;0.066	T	0.19321	-1.0309	10	0.35671	T	0.21	-17.637	6.5003	0.22166	0.7155:0.0:0.2845:0.0	.	332;332	Q96M20;Q96M20-2	CT152_HUMAN;.	R	332	ENSP00000363084:K332R;ENSP00000340954:K332R;ENSP00000442729:K332R	ENSP00000340954:K332R	K	+	2	0	C20orf152	34059657	1.000000	0.71417	0.943000	0.38184	0.389000	0.30415	1.038000	0.30254	0.167000	0.19631	0.459000	0.35465	AAG		0.408	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		37	110	0	0	0	0	37	110				
CHD6	84181	broad.mit.edu	37	20	40049688	40049688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:40049688G>A	ENST00000373233.3	-	31	5764	c.5587C>T	c.(5587-5589)Cac>Tac	p.H1863Y		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1863					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				tcatcACTGTGGTTCTGACTC	0.428																																						uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(5587-5589)CAC>TAC		chromodomain helicase DNA binding protein 6							85.0	90.0	88.0					20																	40049688		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049688G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5587C>T	20.37:g.40049688G>A	ENSP00000362330:p.His1863Tyr						p.H1863Y	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	5765	-		Myeloproliferative disorder(115;0.00425)	1863					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5587C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225459	0.39300	.	.	ENSG00000124177	ENST00000373233	D	0.86297	-2.1	5.47	4.53	0.55603	.	0.342208	0.25132	N	0.032892	T	0.79551	0.4465	L	0.27053	0.805	0.80722	D	1	B	0.27068	0.167	B	0.22152	0.038	T	0.77073	-0.2723	10	0.59425	D	0.04	-8.9998	12.6302	0.56653	0.0766:0.0:0.9234:0.0	.	1863	Q8TD26	CHD6_HUMAN	Y	1863	ENSP00000362330:H1863Y	ENSP00000362330:H1863Y	H	-	1	0	CHD6	39483102	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.233000	0.58651	1.318000	0.45170	0.655000	0.94253	CAC		0.428	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			20	72	0	0	0	0	20	72				
SPATA25	128497	broad.mit.edu	37	20	44515635	44515635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:44515635G>A	ENST00000372519.3	-	2	249	c.205C>T	c.(205-207)Caa>Taa	p.Q69*		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	69					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCCTGGCTTGTGGCATTGCC	0.637																																						uc002xqf.2		NA																	0					0						c.(205-207)CAA>TAA		chromosome 20 open reading frame 165							82.0	91.0	88.0					20																	44515635		2203	4300	6503	SO:0001587	stop_gained	128497					integral to membrane		g.chr20:44515635G>A	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.205C>T	20.37:g.44515635G>A	ENSP00000361597:p.Gln69*						p.Q69*	NM_080608	NP_542175	Q9BR10	CT165_HUMAN			2	214	-		Myeloproliferative disorder(115;0.0122)	69						Nonsense_Mutation	SNP	ENST00000372519.3	37	c.205C>T	CCDS13383.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508386	0.64410	.	.	ENSG00000149634	ENST00000372519	.	.	.	5.12	3.19	0.36642	.	0.454124	0.18809	N	0.130563	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.8028	6.9112	0.24336	0.0:0.7193:0.186:0.0947	.	.	.	.	X	69	.	ENSP00000361597:Q69X	Q	-	1	0	C20orf165	43949042	0.439000	0.25610	0.866000	0.34008	0.981000	0.71138	1.442000	0.35046	0.744000	0.32741	-0.165000	0.13383	CAA		0.637	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			45	170	0	0	0	0	45	170				
GNAS	2778	broad.mit.edu	37	20	57429461	57429461	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:57429461C>G	ENST00000371100.4	+	1	1693	c.1141C>G	c.(1141-1143)Cct>Gct	p.P381A	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P381A|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.P317P|GNAS_ENST00000371102.4_Missense_Mutation_p.P381A	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTACGGATCCCCTGCCGCCGG	0.682			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		0				pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(1141-1143)CCT>GCT		GNAS complex locus XLas							8.0	14.0	12.0					20																	57429461		1886	4057	5943	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429461C>G	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1141C>G	20.37:g.57429461C>G	ENSP00000360141:p.Pro381Ala	TSP Lung(22;0.16)				GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	p.P381A	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1426	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.1141C>G	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	7.505	0.653407	0.14580	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.90133	-2.62;-2.61	3.32	-0.426	0.12314	.	4.515290	0.00983	N	0.003412	D	0.82522	0.5055	N	0.19112	0.55	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.65886	-0.6059	10	0.26408	T	0.33	.	5.2907	0.15725	0.0:0.3382:0.5133:0.1485	.	381	Q5JWF2	GNAS1_HUMAN	A	381	ENSP00000360141:P381A;ENSP00000360143:P381A	ENSP00000360140:P381A	P	+	1	0	GNAS	56862856	0.000000	0.05858	0.183000	0.23137	0.267000	0.26476	-0.408000	0.07169	-0.030000	0.13804	0.462000	0.41574	CCT		0.682	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		3	5	0	0	0	0	3	5				
SLC17A9	63910	broad.mit.edu	37	20	61598820	61598820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:61598820G>A	ENST00000370351.4	+	13	1410	c.1279G>A	c.(1279-1281)Gtg>Atg	p.V427M	SLC17A9_ENST00000370349.3_Missense_Mutation_p.V421M|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	427					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCTCAGAGGGTGGACCTGAG	0.617																																						uc002yea.3		NA																	0				ovary(1)|skin(1)	2						c.(1279-1281)GTG>ATG		vesicular nucleotide transporter SLC17A9							141.0	150.0	147.0					20																	61598820		2075	4200	6275	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61598820G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.1279G>A	20.37:g.61598820G>A	ENSP00000359376:p.Val427Met					SLC17A9_uc002ydz.3_Missense_Mutation_p.V421M|SLC17A9_uc011aap.1_3'UTR	p.V427M	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			13	1463	+			427					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.1279G>A	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031431	0.75504	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.61510	0.1;0.11	4.9	3.95	0.45737	.	0.058638	0.64402	D	0.000002	T	0.73148	0.3550	M	0.76574	2.34	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.71656	0.943;0.974	T	0.74699	-0.3577	10	0.49607	T	0.09	.	13.067	0.59038	0.0784:0.0:0.9216:0.0	.	427;421	Q9BYT1;Q9BYT1-2	S17A9_HUMAN;.	M	427;421	ENSP00000359376:V427M;ENSP00000359374:V421M	ENSP00000359374:V421M	V	+	1	0	SLC17A9	61069265	1.000000	0.71417	0.888000	0.34837	0.939000	0.58152	3.556000	0.53734	1.048000	0.40298	0.561000	0.74099	GTG		0.617	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		33	117	0	0	0	0	33	117				
ABHD16B	140701	broad.mit.edu	37	20	62493551	62493551	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:62493551G>A	ENST00000369916.3	+	1	986	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	220							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						TCAGCACGACGCCAACGCCAT	0.692																																						uc002ygx.1		NA																	0					0						c.(658-660)GCC>ACC		hypothetical protein LOC140701							36.0	32.0	34.0					20																	62493551		2201	4299	6500	SO:0001583	missense	140701						hydrolase activity	g.chr20:62493551G>A		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.658G>A	20.37:g.62493551G>A	ENSP00000358932:p.Ala220Thr						p.A220T	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN			1	986	+	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		220						Missense_Mutation	SNP	ENST00000369916.3	37	c.658G>A	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742164	0.69418	.	.	ENSG00000183260	ENST00000369916	T	0.48836	0.8	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.64080	1.96	0.58432	D	0.999995	D	0.76494	0.999	D	0.72982	0.979	T	0.60244	-0.7301	10	0.25751	T	0.34	-0.4467	15.219	0.73296	0.0:0.0:1.0:0.0	.	220	Q9H3Z7	ABHGB_HUMAN	T	220	ENSP00000358932:A220T	ENSP00000358932:A220T	A	+	1	0	ABHD16B	61963995	1.000000	0.71417	0.997000	0.53966	0.384000	0.30261	5.463000	0.66712	2.182000	0.69389	0.313000	0.20887	GCC		0.692	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			12	20	0	0	0	0	12	20				
LIPI	149998	broad.mit.edu	37	21	15561401	15561401	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:15561401G>T	ENST00000536861.1	-	2	385	c.386C>A	c.(385-387)aCc>aAc	p.T129N	LIPI_ENST00000344577.2_Missense_Mutation_p.T150N			Q6XZB0	LIPI_HUMAN	lipase, member I	129					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AACTTTTCTGGTGTTTTTAAC	0.328																																						uc002yjm.2		NA																	0				ovary(2)	2						c.(448-450)ACC>AAC		lipase, member I							39.0	43.0	42.0					21																	15561401		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561401G>T	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.386C>A	21.37:g.15561401G>T	ENSP00000440381:p.Thr129Asn					LIPI_uc010gkw.1_Missense_Mutation_p.T83N	p.T150N	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	459	-			129					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.449C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.598182|3.598182	0.66332|0.66332	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000400211|ENST00000344577;ENST00000536861;ENST00000382981	.|D;D	.|0.91124	.|-2.79;-2.79	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.096799	.|0.64402	.|D	.|0.000002	D|D	0.96140|0.96140	0.8742|0.8742	M|M	0.91459|0.91459	3.21|3.21	0.33995|0.33995	D|D	0.649645|0.649645	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.78314	.|0.991;0.986	D|D	0.99906|0.99906	1.1182|1.1182	5|10	.|0.72032	.|D	.|0.01	.|.	15.5803|15.5803	0.76428|0.76428	0.0:0.1382:0.8618:0.0|0.0:0.1382:0.8618:0.0	.|.	.|129;150	.|G1JSG6;Q6XZB0-2	.|.;.	Q|N	8|150;129;24	.|ENSP00000343331:T150N;ENSP00000440381:T129N	.|ENSP00000343331:T150N	H|T	-|-	3|2	2|0	LIPI|LIPI	14483272|14483272	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.891000|0.891000	0.51852|0.51852	4.635000|4.635000	0.61332|0.61332	2.644000|2.644000	0.89710|0.89710	0.650000|0.650000	0.86243|0.86243	CAC|ACC		0.328	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		9	61	1	0	7.48e-07	1.99e-06	9	61				
LTN1	26046	broad.mit.edu	37	21	30318479	30318479	+	Silent	SNP	G	G	A	rs201733218		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:30318479G>A	ENST00000361371.5	-	20	3697	c.3618C>T	c.(3616-3618)ttC>ttT	p.F1206F	LTN1_ENST00000389194.2_Silent_p.F1252F			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1206					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCTACCAACTGAAAAGAAAAA	0.308																																						uc002ymr.2		NA																	0					0						c.(3754-3756)TTC>TTT		zinc finger protein 294							89.0	99.0	95.0					21																	30318479		2202	4289	6491	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30318479G>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3618C>T	21.37:g.30318479G>A							p.F1252F	NM_015565	NP_056380	O94822	LTN1_HUMAN			20	3769	-			1206					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.3756C>T																																																																																					0.308	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		17	98	0	0	0	0	17	98				
SYNJ1	8867	broad.mit.edu	37	21	34011425	34011425	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:34011425G>A	ENST00000322229.7	-	30	3707	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	SYNJ1_ENST00000382499.2_Silent_p.F1275F|SYNJ1_ENST00000382491.3_Silent_p.F1189F|SYNJ1_ENST00000357345.3_Silent_p.F1220F|SYNJ1_ENST00000433931.2_Silent_p.F1275F			O43426	SYNJ1_HUMAN	synaptojanin 1	1236	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTTCAGGAAGGAAAGTTGAAC	0.453																																						uc002yqh.2		NA																	0				ovary(4)|skin(1)	5						c.(3823-3825)TTC>TTT		synaptojanin 1 isoform a							58.0	65.0	63.0					21																	34011425		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34011425G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3708C>T	21.37:g.34011425G>A						SYNJ1_uc011ads.1_Silent_p.F1189F|SYNJ1_uc002yqf.2_Silent_p.F1220F|SYNJ1_uc002yqg.2_Silent_p.F1189F|SYNJ1_uc002yqi.2_Silent_p.F1275F|SYNJ1_uc002yqe.3_5'UTR	p.F1275F	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			31	3825	-			1236			Pro-rich.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.3825C>T	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.573|3.573	-0.087187|-0.087187	0.07097|0.07097	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000438952;ENST00000416083|ENST00000418301	.|.	.|.	.|.	5.3|5.3	-0.496|-0.496	0.12027|0.12027	.|.	.|.	.|.	.|.	.|.	T|T	0.40322|0.40322	0.1112|0.1112	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24404|0.24404	-1.0161|-1.0161	4|4	.|.	.|.	.|.	.|.	1.4191|1.4191	0.02308|0.02308	0.209:0.2596:0.3481:0.1833|0.209:0.2596:0.3481:0.1833	.|.	.|.	.|.	.|.	S|F	112;89|57	.|.	.|.	P|S	-|-	1|2	0|0	SYNJ1|SYNJ1	32933296|32933296	0.182000|0.182000	0.23173|0.23173	0.357000|0.357000	0.25798|0.25798	0.700000|0.700000	0.40528|0.40528	-0.028000|-0.028000	0.12350|0.12350	-0.009000|-0.009000	0.14296|0.14296	-0.136000|-0.136000	0.14681|0.14681	CCT|TCC		0.453	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				22	88	0	0	0	0	22	88				
AIFM3	150209	broad.mit.edu	37	22	21332000	21332000	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr22:21332000G>A	ENST00000399167.2	+	15	1534	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Missense_Mutation_p.A432T|AIFM3_ENST00000399163.2_Missense_Mutation_p.A432T|AIFM3_ENST00000405089.1_Missense_Mutation_p.A438T|AIFM3_ENST00000440238.2_Missense_Mutation_p.A432T|AIFM3_ENST00000335375.5_Missense_Mutation_p.A420T	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	432					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCAGTGCCCGCCACAGGCTT	0.617																																						uc002ztj.2		NA																	0				ovary(2)|lung(2)	4						c.(1294-1296)GCC>ACC		apoptosis-inducing factor,							73.0	68.0	70.0					22																	21332000		2203	4300	6503	SO:0001583	missense	150209				activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding	g.chr22:21332000G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1294G>A	22.37:g.21332000G>A	ENSP00000382120:p.Ala432Thr					AIFM3_uc002ztk.2_Missense_Mutation_p.A432T|AIFM3_uc002ztl.2_Missense_Mutation_p.A438T|AIFM3_uc011ahx.1_Missense_Mutation_p.A420T|AIFM3_uc002ztm.1_Missense_Mutation_p.A244T|LZTR1_uc002ztn.2_5'Flank	p.A432T	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		15	1512	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	432					B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.1294G>A	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	7.655	0.683783	0.14907	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.52295	0.68;0.68;0.68;0.67;0.68;0.68	4.66	4.66	0.58398	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.062488	0.64402	D	0.000006	T	0.41971	0.1182	M	0.78801	2.425	0.58432	D	0.999997	P;B;B;B;B	0.35844	0.524;0.334;0.013;0.003;0.016	B;B;B;B;B	0.31101	0.098;0.124;0.009;0.009;0.087	T	0.29150	-1.0021	10	0.13853	T	0.58	.	9.1301	0.36839	0.1025:0.0:0.8975:0.0	.	420;420;438;432;432	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	T	432;432;438;420;432;432	ENSP00000382120:A432T;ENSP00000382116:A432T;ENSP00000385800:A438T;ENSP00000335369:A420T;ENSP00000390798:A432T;ENSP00000327671:A432T	ENSP00000327671:A432T	A	+	1	0	AIFM3	19662000	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	5.834000	0.69361	2.291000	0.77112	0.460000	0.39030	GCC		0.617	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		25	53	0	0	0	0	25	53				
KCNJ4	3761	broad.mit.edu	37	22	38823608	38823608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr22:38823608C>T	ENST00000303592.3	-	2	788	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	177					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CTTCTTGGGCCGCGCCATCTT	0.642																																						uc003avs.1		NA																	0					0						c.(529-531)CGG>CAG		potassium inwardly-rectifying channel J4							44.0	42.0	43.0					22																	38823608		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823608C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.530G>A	22.37:g.38823608C>T	ENSP00000306497:p.Arg177Gln					KCNJ4_uc003avt.1_Missense_Mutation_p.R177Q	p.R177Q	NM_004981	NP_004972	P48050	IRK4_HUMAN			2	627	-	Melanoma(58;0.0286)		177			Cytoplasmic (By similarity).		Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.530G>A	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692612	0.48202	.	.	ENSG00000168135	ENST00000303592	D	0.93712	-3.27	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	L	0.60904	1.88	0.50813	D	0.999896	D	0.63046	0.992	P	0.51324	0.666	D	0.90886	0.4757	10	0.08179	T	0.78	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	177	P48050	IRK4_HUMAN	Q	177	ENSP00000306497:R177Q	ENSP00000306497:R177Q	R	-	2	0	KCNJ4	37153554	1.000000	0.71417	0.888000	0.34837	0.770000	0.43624	6.060000	0.71141	2.472000	0.83506	0.555000	0.69702	CGG		0.642	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		8	51	0	0	0	0	8	51				
TGFBR2	7048	broad.mit.edu	37	3	30713559	30713559	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:30713559C>G	ENST00000295754.5	+	4	1266	c.884C>G	c.(883-885)tCa>tGa	p.S295*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S320*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|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 II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.S295*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACATCTTCTCAGACATCAAT	0.493																																						uc003ceo.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(883-885)TCA>TGA		transforming growth factor, beta receptor II							123.0	115.0	118.0					3																	30713559		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713559C>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.884C>G	3.37:g.30713559C>G	ENSP00000295754:p.Ser295*					TGFBR2_uc003cen.2_Nonsense_Mutation_p.S320*	p.S295*	NM_003242	NP_003233	P37173	TGFR2_HUMAN			4	1266	+			295			Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.884C>G	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	40	8.331796	0.98764	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	.	.	.	5.02	5.02	0.67125	.	0.118890	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.3462	0.90322	0.0:1.0:0.0:0.0	.	.	.	.	X	295;320	.	ENSP00000295754:S295X	S	+	2	0	TGFBR2	30688563	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.947000	0.70242	2.317000	0.78254	0.655000	0.94253	TCA		0.493	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			24	55	0	0	0	0	24	55				
IGSF10	285313	broad.mit.edu	37	3	151154847	151154847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:151154847C>G	ENST00000282466.3	-	6	7501	c.7502G>C	c.(7501-7503)aGa>aCa	p.R2501T	IGSF10_ENST00000495443.1_5'UTR|MED12L_ENST00000474524.1_3'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2501	Ig-like C2-type 11.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAGTTTCCTCTGTCATAAGC	0.393																																						uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(7501-7503)AGA>ACA		immunoglobulin superfamily, member 10 precursor							155.0	150.0	152.0					3																	151154847		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151154847C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7502G>C	3.37:g.151154847C>G	ENSP00000282466:p.Arg2501Thr					IGSF10_uc011bob.1_Missense_Mutation_p.R528T|IGSF10_uc011boc.1_Missense_Mutation_p.R480T	p.R2501T	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7502	-			2501			Ig-like C2-type 11.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.7502G>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479231	0.63849	.	.	ENSG00000152580	ENST00000282466	T	0.66280	-0.2	5.3	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.139684	0.33457	N	0.004888	T	0.67505	0.2900	L	0.41027	1.25	0.50171	D	0.999857	D;D	0.76494	0.999;0.995	D;D	0.71870	0.975;0.928	T	0.62914	-0.6753	10	0.22109	T	0.4	.	11.5878	0.50929	0.0:0.806:0.1245:0.0695	.	2501;528	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	T	2501	ENSP00000282466:R2501T	ENSP00000282466:R2501T	R	-	2	0	IGSF10	152637537	0.554000	0.26522	0.956000	0.39512	0.945000	0.59286	2.450000	0.44943	1.334000	0.45468	0.655000	0.94253	AGA		0.393	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		40	142	0	0	0	0	40	142				
SMC4	10051	broad.mit.edu	37	3	160135570	160135570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:160135570G>A	ENST00000357388.3	+	11	1948	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	SMC4_ENST00000360111.2_Missense_Mutation_p.M499I|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.M499I|SMC4_ENST00000469762.1_Missense_Mutation_p.M474I|SMC4_ENST00000344722.5_Missense_Mutation_p.M499I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	499					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTCAAAGATGGATGTAGCCC	0.378																																						uc003fdh.2		NA																	0				ovary(1)|breast(1)	2						c.(1495-1497)ATG>ATA		SMC4 structural maintenance of chromosomes							97.0	94.0	95.0					3																	160135570		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160135570G>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1497G>A	3.37:g.160135570G>A	ENSP00000349961:p.Met499Ile					IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.M263I|SMC4_uc003fdi.2_Missense_Mutation_p.M474I|SMC4_uc003fdj.2_Missense_Mutation_p.M499I|SMC4_uc010hwd.2_Missense_Mutation_p.M499I|SMC4_uc003fdl.2_Missense_Mutation_p.M202I	p.M499I	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		11	1610	+			499			Potential.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.1497G>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794433	0.70452	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.93	5.93	0.95920	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	N	0.21373	0.66	0.80722	D	1	B;B;P;P	0.35527	0.452;0.004;0.454;0.507	B;B;B;B	0.40702	0.164;0.007;0.266;0.338	T	0.64326	-0.6434	10	0.13470	T	0.59	-21.1541	16.5677	0.84603	0.0:0.1302:0.8698:0.0	.	499;474;474;499	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	I	499;499;474;499;499;93	ENSP00000349961:M499I;ENSP00000353225:M499I;ENSP00000417964:M474I;ENSP00000420734:M499I;ENSP00000341382:M499I	ENSP00000341382:M499I	M	+	3	0	SMC4	161618264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.293000	0.78740	2.805000	0.96524	0.655000	0.94253	ATG		0.378	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			19	79	0	0	0	0	19	79				
TLR6	10333	broad.mit.edu	37	4	38828928	38828928	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:38828928G>C	ENST00000381950.1	-	1	2232	c.2167C>G	c.(2167-2169)Ctc>Gtc	p.L723V	TLR6_ENST00000436693.2_Missense_Mutation_p.L723V			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	723	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATGAAAGAGATTGTGATGG	0.423																																						uc003gtm.2		NA																	0				ovary(2)	2						c.(2167-2169)CTC>GTC		toll-like receptor 6 precursor							184.0	182.0	182.0					4																	38828928		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38828928G>C		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.2167C>G	4.37:g.38828928G>C	ENSP00000371376:p.Leu723Val					TLR6_uc010ifg.1_Missense_Mutation_p.L723V	p.L723V	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	2233	-			723			TIR.|Cytoplasmic (Potential).		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.2167C>G	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290984	0.40494	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.07800	3.16;3.16	4.94	4.09	0.47781	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.53938	D	0.000060	T	0.11879	0.0289	M	0.69823	2.125	0.30657	N	0.754784	B	0.32128	0.357	B	0.36808	0.233	T	0.06789	-1.0807	10	0.87932	D	0	.	5.8011	0.18414	0.3262:0.0:0.6738:0.0	.	723	Q9Y2C9	TLR6_HUMAN	V	723;723;407	ENSP00000389600:L723V;ENSP00000371376:L723V	ENSP00000371376:L723V	L	-	1	0	TLR6	38505323	0.928000	0.31464	1.000000	0.80357	0.882000	0.50991	1.919000	0.40015	1.291000	0.44653	0.561000	0.74099	CTC		0.423	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			54	132	0	0	0	0	54	132				
GABRA4	2557	broad.mit.edu	37	4	46930480	46930480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:46930480C>T	ENST00000264318.3	-	9	2409	c.1427G>A	c.(1426-1428)cGt>cAt	p.R476H		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	476					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AAACACGTGACGAGTAGAAGC	0.483																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1426-1428)CGT>CAT		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						131.0	120.0	124.0					4																	46930480		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930480C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1427G>A	4.37:g.46930480C>T	ENSP00000264318:p.Arg476His						p.R476H	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1566	-			476			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1427G>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	4.204	0.036674	0.08148	.	.	ENSG00000109158	ENST00000264318	T	0.80214	-1.35	5.82	-2.83	0.05769	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.376550	0.00447	N	0.000080	T	0.49525	0.1562	N	0.00841	-1.15	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47328	-0.9126	10	0.35671	T	0.21	.	2.0729	0.03618	0.1327:0.3646:0.1355:0.3673	.	476	P48169	GBRA4_HUMAN	H	476	ENSP00000264318:R476H	ENSP00000264318:R476H	R	-	2	0	GABRA4	46625237	0.746000	0.28272	0.001000	0.08648	0.002000	0.02628	0.977000	0.29475	-0.086000	0.12550	-0.312000	0.09012	CGT		0.483	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			25	84	0	0	0	0	25	84				
CEP135	9662	broad.mit.edu	37	4	56820513	56820513	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:56820513C>G	ENST00000257287.4	+	4	560	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E	CEP135_ENST00000422247.2_Missense_Mutation_p.Q146E	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	146					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCAACAACTTCAAGAAAAGAA	0.323																																						uc003hbi.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(436-438)CAA>GAA		centrosome protein 4							69.0	70.0	70.0					4																	56820513		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56820513C>G	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.436C>G	4.37:g.56820513C>G	ENSP00000257287:p.Gln146Glu					CEP135_uc003hbh.1_Missense_Mutation_p.Q146E|CEP135_uc010igz.1_5'UTR	p.Q146E	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			4	670	+	Glioma(25;0.08)|all_neural(26;0.101)		146			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.436C>G	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623808	0.87460	.	.	ENSG00000174799	ENST00000422247;ENST00000257287	T	0.55588	0.51	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.948	T	0.63928	-0.6526	10	0.02654	T	1	.	19.49	0.95047	0.0:1.0:0.0:0.0	.	146;146	Q66GS9;Q66GS9-2	CP135_HUMAN;.	E	146	ENSP00000257287:Q146E	ENSP00000257287:Q146E	Q	+	1	0	CEP135	56515270	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.818000	0.86416	2.626000	0.88956	0.591000	0.81541	CAA		0.323	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		21	48	0	0	0	0	21	48				
LRIT3	345193	broad.mit.edu	37	4	110790844	110790844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:110790844G>A	ENST00000594814.1	+	4	939	c.939G>A	c.(937-939)atG>atA	p.M313I	LRIT3_ENST00000327908.3_Missense_Mutation_p.M130I|LRIT3_ENST00000409621.2_Missense_Mutation_p.M130I|LRIT3_ENST00000379920.3_Missense_Mutation_p.M268I	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	313	Ig-like.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTCCATAATGAGCTTGACAG	0.423																																						uc003hzx.3		NA																	0					0						c.(802-804)ATG>ATA		leucine-rich repeat, immunoglobulin-like and							111.0	116.0	115.0					4																	110790844		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110790844G>A	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.939G>A	4.37:g.110790844G>A	ENSP00000469759:p.Met313Ile					LRIT3_uc003hzw.3_Missense_Mutation_p.M130I	p.M268I	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	3	997	+			268			Ig-like.		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.804G>A	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	8.257	0.810272	0.16537	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.65732	-0.17;-0.17;-0.17	5.53	0.0819	0.14426	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.219310	0.48767	N	0.000179	T	0.28001	0.0690	N	0.01209	-0.955	0.33034	D	0.530511	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.14364	-1.0475	10	0.30078	T	0.28	.	9.141	0.36903	0.3409:0.5244:0.1346:0.0	.	268;130	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	I	130;268;130	ENSP00000328222:M130I;ENSP00000369252:M268I;ENSP00000386734:M130I	ENSP00000328222:M130I	M	+	3	0	LRIT3	111010293	0.938000	0.31826	0.989000	0.46669	0.991000	0.79684	0.084000	0.14891	-0.236000	0.09753	-0.302000	0.09304	ATG		0.423	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		23	116	0	0	0	0	23	116				
TRIML1	339976	broad.mit.edu	37	4	189068147	189068147	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:189068147G>T	ENST00000332517.3	+	6	1168	c.1028G>T	c.(1027-1029)tGg>tTg	p.W343L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	343	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGACACTACTGGGAGGTGGAG	0.567																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1027-1029)TGG>TTG		tripartite motif family-like 1							79.0	78.0	78.0					4																	189068147		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068147G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1028G>T	4.37:g.189068147G>T	ENSP00000327738:p.Trp343Leu					TRIML1_uc003izn.1_Missense_Mutation_p.W67L	p.W343L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1143	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	343			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1028G>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.399213	0.83120	.	.	ENSG00000184108	ENST00000332517	D	0.86230	-2.09	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.49916	D	0.000138	D	0.95592	0.8567	H	0.96365	3.81	0.54753	D	0.99998	D	0.89917	1.0	D	0.91635	0.999	D	0.96605	0.9448	10	0.87932	D	0	-16.2677	16.0461	0.80722	0.0:0.0:1.0:0.0	.	343	Q8N9V2	TRIML_HUMAN	L	343	ENSP00000327738:W343L	ENSP00000327738:W343L	W	+	2	0	TRIML1	189305141	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.508000	0.73721	2.749000	0.94314	0.550000	0.68814	TGG		0.567	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		14	85	1	0	0.000151284	0.00038798	14	85				
PDZD2	23037	broad.mit.edu	37	5	32088220	32088220	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:32088220G>A	ENST00000438447.1	+	20	5054	c.4666G>A	c.(4666-4668)Gag>Aag	p.E1556K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1556K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1556					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGCGATGCTGAGGATTCTTC	0.542																																						uc003jhl.2		NA																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(4666-4668)GAG>AAG		PDZ domain containing 2							71.0	69.0	70.0					5																	32088220		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088220G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4666G>A	5.37:g.32088220G>A	ENSP00000402033:p.Glu1556Lys					PDZD2_uc003jhm.2_Missense_Mutation_p.E1556K	p.E1556K	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	5054	+			1556					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.4666G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170762	0.78452	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.32753	1.44;1.44	5.36	5.36	0.76844	.	0.000000	0.53938	D	0.000044	T	0.54498	0.1862	M	0.65498	2.005	0.45427	D	0.998408	D	0.69078	0.997	D	0.75020	0.985	T	0.56643	-0.7945	10	0.72032	D	0.01	.	16.5934	0.84781	0.0:0.0:1.0:0.0	.	1556	O15018	PDZD2_HUMAN	K	1556;1357;1556	ENSP00000402033:E1556K;ENSP00000282493:E1556K	ENSP00000282493:E1556K	E	+	1	0	PDZD2	32123977	1.000000	0.71417	0.924000	0.36721	0.376000	0.30014	6.778000	0.75043	2.520000	0.84964	0.655000	0.94253	GAG		0.542	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			28	64	0	0	0	0	28	64				
OSMR	9180	broad.mit.edu	37	5	38933124	38933124	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:38933124C>T	ENST00000274276.3	+	18	2920	c.2518C>T	c.(2518-2520)Ctc>Ttc	p.L840F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	840					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTACCTTTATCTCCTTCCAAC	0.468																																						uc003jln.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2518-2520)CTC>TTC		oncostatin M receptor precursor							150.0	147.0	148.0					5																	38933124		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38933124C>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2518C>T	5.37:g.38933124C>T	ENSP00000274276:p.Leu840Phe					OSMR_uc011cpj.1_Missense_Mutation_p.L44F	p.L840F	NM_003999	NP_003990	Q99650	OSMR_HUMAN			18	2885	+	all_lung(31;0.000365)		840			Cytoplasmic (Potential).		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2518C>T	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.263006	0.39995	.	.	ENSG00000145623	ENST00000274276	T	0.46819	0.86	4.88	1.93	0.25924	.	1.371480	0.04519	N	0.384269	T	0.54919	0.1888	L	0.56769	1.78	0.09310	N	1	D	0.64830	0.994	P	0.57548	0.823	T	0.25813	-1.0121	10	0.22109	T	0.4	.	3.1337	0.06431	0.3175:0.4406:0.1543:0.0876	.	840	Q99650	OSMR_HUMAN	F	840	ENSP00000274276:L840F	ENSP00000274276:L840F	L	+	1	0	OSMR	38968881	0.000000	0.05858	0.002000	0.10522	0.466000	0.32739	-0.040000	0.12104	0.059000	0.16252	0.655000	0.94253	CTC		0.468	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		37	137	0	0	0	0	37	137				
PDE8B	8622	broad.mit.edu	37	5	76645309	76645309	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:76645309C>T	ENST00000264917.5	+	8	987	c.942C>T	c.(940-942)ctC>ctT	p.L314L	PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Silent_p.L314L|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000342343.4_Silent_p.L294L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	314	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GAAAAGAACTCGCTGATCTGC	0.502																																						uc003kfa.2		NA																	0					0						c.(940-942)CTC>CTT		phosphodiesterase 8B isoform 1							134.0	115.0	121.0					5																	76645309		2203	4300	6503	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76645309C>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.942C>T	5.37:g.76645309C>T						PDE8B_uc003kfb.2_Silent_p.L294L|PDE8B_uc003kfc.2_Silent_p.L314L|PDE8B_uc003kfd.2_Intron|PDE8B_uc003kfe.2_Intron	p.L314L	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	8	987	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	314			PAS.		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.942C>T	CCDS4037.1																																																																																				0.502	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		22	68	0	0	0	0	22	68				
IRF1	3659	broad.mit.edu	37	5	131819732	131819732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131819732C>T	ENST00000245414.4	-	10	1147	c.889G>A	c.(889-891)Gat>Aat	p.D297N	IRF1_ENST00000405885.2_Missense_Mutation_p.D297N|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	297					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TTCTTCAGATCTGTGAAGACA	0.582																																						uc003kxa.2		NA																	0					0						c.(889-891)GAT>AAT		interferon regulatory factor 1							117.0	107.0	110.0					5																	131819732		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131819732C>T		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.889G>A	5.37:g.131819732C>T	ENSP00000245414:p.Asp297Asn					C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.D297N	p.D297N	NM_002198	NP_002189	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	10	1123	-		all_cancers(142;0.026)|Breast(839;0.198)	297					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.889G>A	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726570	0.69074	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.99032	-5.35;-5.35	5.81	5.81	0.92471	.	0.367187	0.27039	N	0.021230	D	0.97498	0.9181	L	0.46157	1.445	0.38156	D	0.938886	P	0.34522	0.455	B	0.33568	0.166	D	0.98660	1.0683	10	0.62326	D	0.03	-11.7634	15.5827	0.76459	0.0:1.0:0.0:0.0	.	297	P10914	IRF1_HUMAN	N	297	ENSP00000245414:D297N;ENSP00000384406:D297N	ENSP00000245414:D297N	D	-	1	0	IRF1	131847631	0.998000	0.40836	0.997000	0.53966	0.995000	0.86356	3.506000	0.53364	2.746000	0.94184	0.655000	0.94253	GAT		0.582	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		18	77	0	0	0	0	18	77				
IRF1	3659	broad.mit.edu	37	5	131820066	131820066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820066C>G	ENST00000245414.4	-	9	1099	c.841G>C	c.(841-843)Gac>Cac	p.D281H	IRF1_ENST00000405885.2_Missense_Mutation_p.D281H|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	281					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCTGGGCTGTCAATTTCTGGC	0.552																																						uc003kxa.2		NA																	0					0						c.(841-843)GAC>CAC		interferon regulatory factor 1							127.0	124.0	125.0					5																	131820066		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131820066C>G		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.841G>C	5.37:g.131820066C>G	ENSP00000245414:p.Asp281His					C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.D281H	p.D281H	NM_002198	NP_002189	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	9	1075	-		all_cancers(142;0.026)|Breast(839;0.198)	281					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.841G>C	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878497	0.51801	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.99252	-5.63;-5.63	5.6	5.6	0.85130	.	0.138793	0.46442	D	0.000284	D	0.98598	0.9531	M	0.62723	1.935	0.47094	D	0.999316	P	0.49696	0.927	P	0.47673	0.554	D	0.99004	1.0812	10	0.62326	D	0.03	-14.0714	15.1247	0.72472	0.0:1.0:0.0:0.0	.	281	P10914	IRF1_HUMAN	H	281	ENSP00000245414:D281H;ENSP00000384406:D281H	ENSP00000245414:D281H	D	-	1	0	IRF1	131847965	0.996000	0.38824	0.990000	0.47175	0.254000	0.26022	3.464000	0.53057	2.624000	0.88883	0.655000	0.94253	GAC		0.552	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		19	99	0	0	0	0	19	99				
IRF1	3659	broad.mit.edu	37	5	131820143	131820143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820143C>T	ENST00000245414.4	-	9	1022	c.764G>A	c.(763-765)gGg>gAg	p.G255E	IRF1_ENST00000405885.2_Missense_Mutation_p.G255E|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	255					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GAGTAGGTACCCCTTCCCATC	0.552																																						uc003kxa.2		NA																	0					0						c.(763-765)GGG>GAG		interferon regulatory factor 1							141.0	136.0	138.0					5																	131820143		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131820143C>T		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.764G>A	5.37:g.131820143C>T	ENSP00000245414:p.Gly255Glu					C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.G255E	p.G255E	NM_002198	NP_002189	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	9	998	-		all_cancers(142;0.026)|Breast(839;0.198)	255					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.764G>A	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588833	0.86851	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.81739	-1.53;-1.53	5.67	5.67	0.87782	.	0.096722	0.64402	D	0.000001	D	0.89143	0.6631	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89669	0.3882	10	0.87932	D	0	-24.6922	18.3462	0.90322	0.0:1.0:0.0:0.0	.	255	P10914	IRF1_HUMAN	E	255	ENSP00000245414:G255E;ENSP00000384406:G255E	ENSP00000245414:G255E	G	-	2	0	IRF1	131848042	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.766000	0.62279	2.677000	0.91161	0.561000	0.74099	GGG		0.552	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		22	141	0	0	0	0	22	141				
IRF1	3659	broad.mit.edu	37	5	131820153	131820153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820153C>T	ENST00000245414.4	-	9	1012	c.754G>A	c.(754-756)Gat>Aat	p.D252N	IRF1_ENST00000405885.2_Missense_Mutation_p.D252N|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	252					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCCTTCCCATCCACGTTTGTT	0.567																																						uc003kxa.2		NA																	0					0						c.(754-756)GAT>AAT		interferon regulatory factor 1							127.0	124.0	125.0					5																	131820153		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131820153C>T		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.754G>A	5.37:g.131820153C>T	ENSP00000245414:p.Asp252Asn					C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.D252N	p.D252N	NM_002198	NP_002189	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	9	988	-		all_cancers(142;0.026)|Breast(839;0.198)	252					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.754G>A	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006936	0.74932	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.98947	-5.26;-5.26	5.67	5.67	0.87782	.	0.195722	0.53938	D	0.000049	D	0.97629	0.9223	L	0.59436	1.845	0.45554	D	0.998502	P	0.46395	0.877	P	0.45829	0.494	D	0.97607	1.0127	10	0.12103	T	0.63	-16.2559	18.3462	0.90322	0.0:1.0:0.0:0.0	.	252	P10914	IRF1_HUMAN	N	252	ENSP00000245414:D252N;ENSP00000384406:D252N	ENSP00000245414:D252N	D	-	1	0	IRF1	131848052	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	3.237000	0.51344	2.677000	0.91161	0.561000	0.74099	GAT		0.567	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		23	146	0	0	0	0	23	146				
PCDH12	51294	broad.mit.edu	37	5	141335106	141335106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:141335106G>A	ENST00000231484.3	-	1	3521	c.2311C>T	c.(2311-2313)Cag>Tag	p.Q771*	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	771					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCCTTCTGAATGTGTTTC	0.587																																						uc003llx.2		NA																	0				ovary(3)	3						c.(2311-2313)CAG>TAG		protocadherin 12 precursor							61.0	51.0	55.0					5																	141335106		2203	4300	6503	SO:0001587	stop_gained	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335106G>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2311C>T	5.37:g.141335106G>A	ENSP00000231484:p.Gln771*						p.Q771*	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3522	-		all_hematologic(541;0.0999)	771			Cytoplasmic (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Nonsense_Mutation	SNP	ENST00000231484.3	37	c.2311C>T	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	49	14.973408	0.99817	.	.	ENSG00000113555	ENST00000231484	.	.	.	4.9	4.9	0.64082	.	0.065703	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	15.6181	0.76784	0.0:0.0:1.0:0.0	.	.	.	.	X	771	.	ENSP00000231484:Q771X	Q	-	1	0	PCDH12	141315290	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.770000	0.62309	2.571000	0.86741	0.561000	0.74099	CAG		0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		11	62	0	0	0	0	11	62				
FAXDC2	10826	broad.mit.edu	37	5	154214195	154214195	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:154214195G>A	ENST00000326080.5	-	4	657	c.234C>T	c.(232-234)ctC>ctT	p.L78L	FAXDC2_ENST00000518651.1_Silent_p.L55L|FAXDC2_ENST00000520968.1_Silent_p.L78L|FAXDC2_ENST00000517938.1_Silent_p.L55L|FAXDC2_ENST00000523997.1_5'UTR	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	78					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										CTATAAAGAAGAGGATCCACT	0.453																																						uc003lvs.3		NA																	0				ovary(1)	1						c.(232-234)CTC>CTT		hypothetical protein LOC10826							47.0	51.0	50.0					5																	154214195		1895	4136	6031	SO:0001819	synonymous_variant	10826				fatty acid biosynthetic process	integral to membrane	iron ion binding|oxidoreductase activity	g.chr5:154214195G>A	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.234C>T	5.37:g.154214195G>A						C5orf4_uc011dde.1_Silent_p.L55L	p.L78L	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		4	405	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	78			Helical; (Potential).		B4DIE1|Q9BSX6|Q9H8C7	Silent	SNP	ENST00000326080.5	37	c.234C>T	CCDS43390.1																																																																																				0.453	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		13	40	0	0	0	0	13	40				
KCNMB1	3779	broad.mit.edu	37	5	169805750	169805750	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:169805750C>T	ENST00000274629.4	-	4	976	c.534G>A	c.(532-534)gtG>gtA	p.V178V	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	178					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	GGTTGCTCTTCACCATGGCGA	0.627																																						uc003maq.1		NA																	0				ovary(2)	2						c.(532-534)GTG>GTA		potassium large conductance calcium-activated							93.0	94.0	94.0					5																	169805750		2203	4300	6503	SO:0001819	synonymous_variant	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169805750C>T	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.534G>A	5.37:g.169805750C>T						KCNIP1_uc003map.2_Intron	p.V178V	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	4	934	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	178			Helical; Name=2; (Potential).		O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Silent	SNP	ENST00000274629.4	37	c.534G>A	CCDS4373.1																																																																																				0.627	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			21	82	0	0	0	0	21	82				
UNC5A	90249	broad.mit.edu	37	5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:176306459G>A	ENST00000329542.4	+	14	2607	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	778	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677																																						uc003mey.2		NA																	0				skin(1)	1						c.(2332-2334)CGG>CAG		netrin receptor Unc5h1 precursor							47.0	58.0	55.0					5																	176306459		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176306459G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2333G>A	5.37:g.176306459G>A	ENSP00000332737:p.Arg778Gln						p.R778Q	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	2525	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	778			Death.|Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.2333G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170142	0.78452	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	D;D	0.86865	-2.18;-2.18	5.15	3.38	0.38709	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.80037	0.4550	L	0.59436	1.845	0.46701	D	0.999167	P	0.36535	0.557	B	0.22386	0.039	T	0.75068	-0.3448	10	0.30078	T	0.28	-38.2605	10.3637	0.44010	0.1594:0.0:0.8406:0.0	.	778	Q6ZN44	UNC5A_HUMAN	Q	778;738	ENSP00000332737:R778Q;ENSP00000261961:R738Q	ENSP00000261961:R738Q	R	+	2	0	UNC5A	176239065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.612000	0.98347	0.765000	0.33221	0.561000	0.74099	CGG		0.677	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		28	118	0	0	0	0	28	118				
MXD3	83463	broad.mit.edu	37	5	176734658	176734658	+	Silent	SNP	G	G	A	rs371715811		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:176734658G>A	ENST00000439742.2	-	6	1030	c.552C>T	c.(550-552)gcC>gcT	p.A184A	MXD3_ENST00000513063.1_Silent_p.A184A|MXD3_ENST00000427908.2_Intron|MXD3_ENST00000423571.2_Missense_Mutation_p.P210L	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	184					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCAGCTCGGCCTCACCCC	0.701																																						uc003mgb.2		NA																	0					0						c.(550-552)GCC>GCT		MAX dimerization protein 3 isoform a		G	,	0,4406		0,0,2203	32.0	35.0	34.0		,552	-10.4	0.0	5		34	2,8596	1.2+/-3.3	0,2,4297	no	intron,coding-synonymous	MXD3	NM_001142935.1,NM_031300.3	,	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	,	,184/207	176734658	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	83463				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:176734658G>A	BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.552C>T	5.37:g.176734658G>A						MXD3_uc010jkk.2_Intron|MXD3_uc003mga.3_Missense_Mutation_p.P210L|MXD3_uc003mgc.2_Silent_p.A174A	p.A184A	NM_031300	NP_112590	Q9BW11	MAD3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1013	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	184					B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Silent	SNP	ENST00000439742.2	37	c.552C>T	CCDS4416.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696885	0.30142	0.0	2.33E-4	ENSG00000213347	ENST00000423571	T	0.51817	0.69	5.21	-10.4	0.00318	.	.	.	.	.	T	0.26991	0.0661	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.36768	-0.9734	8	0.87932	D	0	.	2.0813	0.03635	0.3051:0.3694:0.1329:0.1926	.	210	B4E0J1	.	L	210	ENSP00000389716:P210L	ENSP00000389716:P210L	P	-	2	0	MXD3	176667264	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-3.494000	0.00452	-3.399000	0.00171	-0.258000	0.10820	CCG		0.701	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			18	59	0	0	0	0	18	59				
BTN2A2	10385	broad.mit.edu	37	6	26388333	26388333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:26388333C>T	ENST00000356709.4	+	4	646	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000352867.2_Missense_Mutation_p.L63F|BTN2A2_ENST00000469230.1_Missense_Mutation_p.L179F|BTN2A2_ENST00000416795.2_Missense_Mutation_p.L179F	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	179	Ig-like C2-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCCAGAGCCCCTCACAGTGTG	0.582																																						uc003nhq.2		NA																	0					0						c.(535-537)CTC>TTC		butyrophilin, subfamily 2, member A2 isoform a							98.0	83.0	88.0					6																	26388333		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26388333C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.535C>T	6.37:g.26388333C>T	ENSP00000349143:p.Leu179Phe					BTN2A2_uc011dkf.1_Missense_Mutation_p.L63F|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.L63F|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.L179F|BTN2A2_uc003nht.2_Missense_Mutation_p.L179F|BTN2A2_uc011dki.1_5'Flank	p.L179F	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			4	621	+			179			Extracellular (Potential).|Ig-like C2-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.535C>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	c	11.81	1.750242	0.30955	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000352867;ENST00000493275;ENST00000472507;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.22	2.39	0.29439	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	1.162000	0.06357	N	0.710910	T	0.73110	0.3545	M	0.72894	2.215	0.21220	N	0.999756	D;P;P;B	0.69078	0.997;0.865;0.946;0.445	D;P;P;P	0.65874	0.939;0.466;0.776;0.454	T	0.55250	-0.8170	10	0.54805	T	0.06	.	3.4161	0.07376	0.1711:0.5634:0.1665:0.0991	.	63;179;63;179	B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;BT2A2_HUMAN	F	179;179;63;179;63;179;63	ENSP00000417472:L179F;ENSP00000349143:L179F;ENSP00000337117:L63F;ENSP00000418857:L179F;ENSP00000419226:L63F;ENSP00000399308:L179F;ENSP00000418176:L63F	ENSP00000337117:L63F	L	+	1	0	BTN2A2	26496312	0.000000	0.05858	0.711000	0.30485	0.189000	0.23516	-0.220000	0.09215	0.791000	0.33826	-0.390000	0.06520	CTC		0.582	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			16	60	0	0	0	0	16	60				
ZNF391	346157	broad.mit.edu	37	6	27368900	27368900	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:27368900T>C	ENST00000244576.4	+	3	1296	c.751T>C	c.(751-753)Tgc>Cgc	p.C251R	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCCCTATGAATGCAGTAAATG	0.438																																						uc003njf.1		NA																	0				pancreas(2)|skin(1)	3						c.(751-753)TGC>CGC		zinc finger protein 391							66.0	71.0	69.0					6																	27368900		2199	4299	6498	SO:0001583	missense	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368900T>C	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.751T>C	6.37:g.27368900T>C	ENSP00000244576:p.Cys251Arg						p.C251R	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN			3	1269	+			251			C2H2-type 6.		B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	c.751T>C	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.651109	0.67472	.	.	ENSG00000124613	ENST00000244576	D	0.85258	-1.96	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94358	0.8186	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95271	0.8377	9	0.87932	D	0	.	10.8976	0.47031	0.0:0.0:0.0:1.0	.	251	Q9UJN7	ZN391_HUMAN	R	251	ENSP00000244576:C251R	ENSP00000244576:C251R	C	+	1	0	ZNF391	27476879	1.000000	0.71417	0.296000	0.24974	0.852000	0.48524	6.580000	0.74040	1.440000	0.47531	0.460000	0.39030	TGC		0.438	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		4	30	0	0	0	0	4	30				
ZBED9	114821	broad.mit.edu	37	6	28540086	28540086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:28540086G>A	ENST00000452236.2	-	4	4197	c.3580C>T	c.(3580-3582)Cca>Tca	p.P1194S		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcttttgatggaaaataaaat	0.289																																						uc003nlo.2		NA																	0				ovary(1)	1						c.(3580-3582)CCA>TCA		SCAN domain containing 3							26.0	25.0	25.0					6																	28540086		2199	4290	6489	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540086G>A																												ENST00000452236.2:c.3580C>T	6.37:g.28540086G>A	ENSP00000395259:p.Pro1194Ser						p.P1194S	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			4	4198	-			1194						Missense_Mutation	SNP	ENST00000452236.2	37	c.3580C>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476342	0.44044	.	.	ENSG00000232040	ENST00000452236	T	0.21734	1.99	2.53	2.53	0.30540	Ribonuclease H-like (1);	0.000000	0.49305	U	0.000149	T	0.12987	0.0315	N	0.19112	0.55	0.27227	N	0.959517	D	0.76494	0.999	D	0.79108	0.992	T	0.09930	-1.0652	10	0.25751	T	0.34	.	8.7013	0.34327	0.0:0.0:1.0:0.0	.	1194	Q6R2W3	SCND3_HUMAN	S	1194	ENSP00000395259:P1194S	ENSP00000395259:P1194S	P	-	1	0	SCAND3	28648065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.317000	0.43770	1.719000	0.51432	0.655000	0.94253	CCA		0.289	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			4	20	0	0	0	0	4	20				
RXRB	6257	broad.mit.edu	37	6	33164363	33164363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:33164363G>A	ENST00000374680.3	-	5	1052	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	RXRB_ENST00000374685.4_Missense_Mutation_p.R281W|RXRB_ENST00000544186.1_Missense_Mutation_p.R91W|RXRB_ENST00000413614.2_Missense_Mutation_p.R185W	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	281	Hinge.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCTTTCCCCGCTGACGCTCC	0.602																																						uc003odb.2		NA																	0				ovary(3)	3						c.(841-843)CGG>TGG		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						47.0	61.0	56.0					6																	33164363		1508	2706	4214	SO:0001583	missense	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33164363G>A	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.841C>T	6.37:g.33164363G>A	ENSP00000363812:p.Arg281Trp					RXRB_uc003odc.2_Missense_Mutation_p.R281W|RXRB_uc003odd.2_Missense_Mutation_p.R185W|RXRB_uc011dqr.1_Missense_Mutation_p.R91W|RXRB_uc011dqs.1_Missense_Mutation_p.R164W|RXRB_uc003ode.1_Missense_Mutation_p.R145W|RXRB_uc011dqt.1_Missense_Mutation_p.R281W|RXRB_uc011dqu.1_Missense_Mutation_p.R185W	p.R281W	NM_021976	NP_068811	P28702	RXRB_HUMAN			5	1020	-			281			Hinge.		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.841C>T	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344197	0.61073	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	4.97	4.03	0.46877	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.058091	0.64402	D	0.000002	D	0.97564	0.9202	M	0.80746	2.51	0.50313	D	0.999866	D;D;D;P;P;D;D;D	0.89917	1.0;1.0;1.0;0.806;0.802;1.0;1.0;1.0	D;D;D;B;B;D;D;D	0.87578	0.998;0.964;0.973;0.169;0.191;0.957;0.913;0.957	D	0.97612	1.0130	10	0.87932	D	0	.	12.3299	0.55033	0.0:0.0:0.821:0.179	.	185;281;164;91;281;281;321;281	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	W	281;281;91;185	ENSP00000363817:R281W;ENSP00000363812:R281W;ENSP00000439222:R91W;ENSP00000415561:R185W	ENSP00000363812:R281W	R	-	1	2	RXRB	33272341	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.303000	0.33470	2.577000	0.86979	0.549000	0.68633	CGG		0.602	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		11	67	0	0	0	0	11	67				
PACSIN1	29993	broad.mit.edu	37	6	34496436	34496436	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:34496436C>T	ENST00000538621.1	+	4	483	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	PACSIN1_ENST00000244458.2_Silent_p.L80L|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Silent_p.L38L	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	80	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GTATGGCAGCCTGGAGCGGGC	0.582																																						uc003ojo.2		NA																	0					0						c.(238-240)CTG>TTG		protein kinase C and casein kinase substrate in							95.0	101.0	99.0					6																	34496436		2203	4300	6503	SO:0001819	synonymous_variant	29993				endocytosis		protein kinase activity	g.chr6:34496436C>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.238C>T	6.37:g.34496436C>T						PACSIN1_uc003ojp.2_Silent_p.L80L	p.L80L	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			4	444	+			80					Q9P2G8	Silent	SNP	ENST00000538621.1	37	c.238C>T	CCDS4793.1																																																																																				0.582	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			37	131	0	0	0	0	37	131				
SPDEF	25803	broad.mit.edu	37	6	34507170	34507170	+	Missense_Mutation	SNP	G	G	A	rs200344679	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:34507170G>A	ENST00000374037.3	-	5	1100	c.686C>T	c.(685-687)tCg>tTg	p.S229L	SPDEF_ENST00000544425.1_Missense_Mutation_p.S213L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	229					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S229L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CTCACTGGTCGAGGCTGGGTG	0.667													G|||	4	0.000798722	0.0	0.0014	5008	,	,		12558	0.0		0.001	False		,,,				2504	0.002					uc003ojq.1		NA																	1	Substitution - Missense(1)	p.S229L(1)	skin(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(685-687)TCG>TTG		SAM pointed domain containing ets transcription							76.0	73.0	74.0					6																	34507170		2203	4300	6503	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34507170G>A	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.686C>T	6.37:g.34507170G>A	ENSP00000363149:p.Ser229Leu					SPDEF_uc011dsq.1_Missense_Mutation_p.S213L	p.S229L	NM_012391	NP_036523	O95238	SPDEF_HUMAN			5	1101	-			229					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.686C>T	CCDS4794.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.26	2.779860	0.49891	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.15017	2.46;2.73	4.44	3.55	0.40652	.	0.502040	0.17749	N	0.163311	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B;B	0.28933	0.228;0.004	B;B	0.15870	0.014;0.0	T	0.35425	-0.9789	10	0.29301	T	0.29	.	11.2288	0.48899	0.0889:0.0:0.9111:0.0	.	213;229	F5H778;O95238	.;SPDEF_HUMAN	L	229;213	ENSP00000363149:S229L;ENSP00000442715:S213L	ENSP00000363149:S229L	S	-	2	0	SPDEF	34615148	0.312000	0.24545	0.686000	0.30086	0.647000	0.38526	2.320000	0.43797	2.304000	0.77564	0.561000	0.74099	TCG		0.667	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		22	109	0	0	0	0	22	109				
ENPP4	22875	broad.mit.edu	37	6	46108043	46108043	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:46108043C>T	ENST00000321037.4	+	2	953	c.723C>T	c.(721-723)acC>acT	p.T241T		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	241					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ATGGGATGACCCAGTGTTCTC	0.393																																						uc003oxy.2		NA																	0				ovary(3)|skin(1)	4						c.(721-723)ACC>ACT		ectonucleotide pyrophosphatase/phosphodiesterase							113.0	106.0	108.0					6																	46108043		2203	4300	6503	SO:0001819	synonymous_variant	22875					integral to membrane	hydrolase activity	g.chr6:46108043C>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.723C>T	6.37:g.46108043C>T							p.T241T	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			2	982	+			241			Extracellular (Potential).		A8K5G1|Q7L2N1	Silent	SNP	ENST00000321037.4	37	c.723C>T	CCDS34468.1																																																																																				0.393	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			18	62	0	0	0	0	18	62				
PKHD1	5314	broad.mit.edu	37	6	51921548	51921548	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:51921548G>A	ENST00000371117.3	-	18	1916	c.1641C>T	c.(1639-1641)tgC>tgT	p.C547C	PKHD1_ENST00000340994.4_Silent_p.C547C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	547					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTCCAGTTTGCATTTTACTG	0.413																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(1639-1641)TGC>TGT		fibrocystin isoform 1							128.0	133.0	131.0					6																	51921548		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51921548G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1641C>T	6.37:g.51921548G>A						PKHD1_uc003pai.2_Silent_p.C547C	p.C547C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			18	1917	-	Lung NSC(77;0.0605)		547			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.1641C>T	CCDS4935.1																																																																																				0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		24	82	0	0	0	0	24	82				
EFHC1	114327	broad.mit.edu	37	6	52317592	52317592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:52317592C>T	ENST00000371068.5	+	4	783	c.680C>T	c.(679-681)tCa>tTa	p.S227L	EFHC1_ENST00000433625.2_Missense_Mutation_p.S136L|EFHC1_ENST00000538167.1_Missense_Mutation_p.S208L	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	227						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTCACCCCATCAGACTTTGAT	0.398																																						uc003pap.3		NA																	0				ovary(2)|skin(1)	3						c.(679-681)TCA>TTA		EF-hand domain (C-terminal) containing 1							155.0	148.0	150.0					6																	52317592		2203	4300	6503	SO:0001583	missense	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52317592C>T	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.680C>T	6.37:g.52317592C>T	ENSP00000360107:p.Ser227Leu					EFHC1_uc011dwv.1_Missense_Mutation_p.S136L|EFHC1_uc011dww.1_Missense_Mutation_p.S208L	p.S227L	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN			4	895	+	Lung NSC(77;0.109)		227					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	c.680C>T	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784740	0.70222	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.69926	-0.18;-0.44;-0.39	6.01	6.01	0.97437	.	0.290551	0.39615	N	0.001304	T	0.72128	0.3422	M	0.90252	3.1	0.39870	D	0.973496	P;B;B	0.36010	0.532;0.075;0.017	B;B;B	0.41299	0.353;0.04;0.017	T	0.72912	-0.4148	10	0.33141	T	0.24	-30.5537	20.5141	0.99211	0.0:1.0:0.0:0.0	.	208;136;227	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	L	227;136;208	ENSP00000360107:S227L;ENSP00000416492:S136L;ENSP00000444521:S208L	ENSP00000360107:S227L	S	+	2	0	EFHC1	52425551	0.563000	0.26594	0.938000	0.37757	0.961000	0.63080	3.439000	0.52878	2.850000	0.98022	0.655000	0.94253	TCA		0.398	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		22	88	0	0	0	0	22	88				
BACH2	60468	broad.mit.edu	37	6	90660231	90660231	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:90660231C>G	ENST00000257749.4	-	7	2301	c.1594G>C	c.(1594-1596)Ggg>Cgg	p.G532R	BACH2_ENST00000343122.3_Missense_Mutation_p.G532R|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.G532R|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	532						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCCCGCTCCCGTCCTCCGCG	0.622																																						uc011eab.1		NA																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(1594-1596)GGG>CGG		BTB and CNC homology 1, basic leucine zipper							60.0	62.0	61.0					6																	90660231		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660231C>G	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1594G>C	6.37:g.90660231C>G	ENSP00000257749:p.Gly532Arg					BACH2_uc003pnw.2_Missense_Mutation_p.G532R|BACH2_uc010kch.2_Missense_Mutation_p.G532R	p.G532R	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2403	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	532					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.1594G>C	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411169	0.62399	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.49432	0.78;0.78;0.78	5.2	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.46718	0.1407	L	0.29908	0.895	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.53613	-0.8414	10	0.56958	D	0.05	-6.6988	14.9884	0.71365	0.1438:0.8562:0.0:0.0	.	532	Q9BYV9	BACH2_HUMAN	R	532	ENSP00000257749:G532R;ENSP00000437473:G532R;ENSP00000345642:G532R	ENSP00000257749:G532R	G	-	1	0	BACH2	90716952	1.000000	0.71417	0.694000	0.30210	0.914000	0.54420	7.294000	0.78760	1.170000	0.42753	0.460000	0.39030	GGG		0.622	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		17	51	0	0	0	0	17	51				
METTL24	728464	broad.mit.edu	37	6	110567452	110567452	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:110567452G>A	ENST00000338882.4	-	5	797	c.798C>T	c.(796-798)ctC>ctT	p.L266L	CDC40_ENST00000368930.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	266						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)										GATCTGCCTTGAGAACGTCAA	0.373																																						uc010kdu.1		NA																	0					0						c.(796-798)CTC>CTT		chromosome 6 open reading frame 186 precursor							57.0	49.0	52.0					6																	110567452		1568	3582	5150	SO:0001819	synonymous_variant	728464					extracellular region		g.chr6:110567452G>A		CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 186"""	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.798C>T	6.37:g.110567452G>A						C6orf186_uc003pub.2_Silent_p.L69L	p.L266L	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN			5	798	-			266					Q6ZSU5	Silent	SNP	ENST00000338882.4	37	c.798C>T	CCDS43489.1																																																																																				0.373	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041794.1	NM_001123364		10	28	0	0	0	0	10	28				
REV3L	5980	broad.mit.edu	37	6	111693797	111693797	+	Splice_Site	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:111693797A>G	ENST00000358835.3	-	14	6214		c.e14+1		REV3L_ENST00000368805.1_Splice_Site|REV3L_ENST00000368802.3_Splice_Site|REV3L_ENST00000435970.1_Splice_Site			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATAACTGATTACCTGGGCTTT	0.348								DNA polymerases (catalytic subunits)																														uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.e13+1	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							66.0	70.0	69.0					6																	111693797		2203	4300	6503	SO:0001630	splice_region_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693797A>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5759+1T>C	6.37:g.111693797A>G						REV3L_uc003pux.3_Splice_Site_p.R1842_splice|REV3L_uc003puz.3_Splice_Site_p.R1842_splice	p.R1920_splice	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	6082	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)						O43214|Q5TC33	Splice_Site	SNP	ENST00000358835.3	37	c.5759_splice	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	16.69	3.192265	0.58017	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	REV3L	111800490	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.904000	0.92590	2.308000	0.77769	0.533000	0.62120	.		0.348	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	Intron	18	67	0	0	0	0	18	67				
LAMA4	3910	broad.mit.edu	37	6	112506519	112506519	+	Missense_Mutation	SNP	C	C	T	rs576711704		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:112506519C>T	ENST00000230538.7	-	9	1394	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	LAMA4_ENST00000424408.2_Missense_Mutation_p.A326T|LAMA4_ENST00000522006.1_Missense_Mutation_p.A326T|LAMA4_ENST00000389463.4_Missense_Mutation_p.A326T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	333	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCTTAGGGCGTATTGGTTT	0.358																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(997-999)GCC>ACC		laminin, alpha 4 isoform 1 precursor							325.0	261.0	283.0					6																	112506519		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112506519C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.997G>A	6.37:g.112506519C>T	ENSP00000230538:p.Ala333Thr					LAMA4_uc003pvv.2_Missense_Mutation_p.A326T|LAMA4_uc003pvt.2_Missense_Mutation_p.A326T	p.A333T	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	9	1306	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	333			Potential.|Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.997G>A	CCDS43491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.585861|1.585861	0.28268|0.28268	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881|ENST00000521732	T;T;T;T|.	0.10005|.	2.92;2.92;2.92;2.92|.	5.44|5.44	-0.216|-0.216	0.13153|0.13153	Laminin I (1);|.	0.738651|.	0.13538|.	N|.	0.380437|.	T|T	0.07999|0.07999	0.0200|0.0200	N|N	0.03608|0.03608	-0.345|-0.345	0.53005|0.53005	D|D	0.999962|0.999962	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.11792|0.11792	-1.0573|-1.0573	10|5	0.15499|.	T|.	0.54|.	.|.	5.194|5.194	0.15225|0.15225	0.0:0.4433:0.1472:0.4095|0.0:0.4433:0.1472:0.4095	.|.	333;326|.	Q16363;Q16363-2|.	LAMA4_HUMAN;.|.	T|H	333;326;326;326;333|145	ENSP00000230538:A333T;ENSP00000429488:A326T;ENSP00000374114:A326T;ENSP00000416470:A326T|.	ENSP00000230538:A333T|.	A|R	-|-	1|2	0|0	LAMA4|LAMA4	112613212|112613212	0.215000|0.215000	0.23574|0.23574	0.943000|0.943000	0.38184|0.38184	0.976000|0.976000	0.68499|0.68499	-0.116000|-0.116000	0.10724|0.10724	0.112000|0.112000	0.17975|0.17975	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.358	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		26	111	0	0	0	0	26	111				
LAMA4	3910	broad.mit.edu	37	6	112508752	112508752	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:112508752A>G	ENST00000230538.7	-	8	1263	c.866T>C	c.(865-867)cTc>cCc	p.L289P	LAMA4_ENST00000424408.2_Missense_Mutation_p.L282P|LAMA4_ENST00000522006.1_Missense_Mutation_p.L282P|LAMA4_ENST00000389463.4_Missense_Mutation_p.L282P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	289	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTCGATGGAGAGCGCTGCTAA	0.527																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(865-867)CTC>CCC		laminin, alpha 4 isoform 1 precursor							89.0	73.0	79.0					6																	112508752		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112508752A>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.866T>C	6.37:g.112508752A>G	ENSP00000230538:p.Leu289Pro					LAMA4_uc003pvv.2_Missense_Mutation_p.L282P|LAMA4_uc003pvt.2_Missense_Mutation_p.L282P	p.L289P	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	8	1175	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	289			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.866T>C	CCDS43491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.67|13.67	2.306417|2.306417	0.40795|0.40795	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588|ENST00000368640	T;T;T;T;T|.	0.28666|.	2.6;2.56;2.56;2.56;1.6|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.121374|.	0.56097|.	D|.	0.000027|.	T|T	0.45256|0.45256	0.1333|0.1333	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77004|.	0.975;0.989|.	T|T	0.45145|0.45145	-0.9281|-0.9281	10|5	0.29301|.	T|.	0.29|.	.|.	12.0048|12.0048	0.53252|0.53252	0.8706:0.0:0.0:0.1294|0.8706:0.0:0.0:0.1294	.|.	289;282|.	Q16363;Q16363-2|.	LAMA4_HUMAN;.|.	P|P	289;282;282;282;289;289;282|93	ENSP00000230538:L289P;ENSP00000429488:L282P;ENSP00000374114:L282P;ENSP00000416470:L282P;ENSP00000430336:L289P|.	ENSP00000230538:L289P|.	L|S	-|-	2|1	0|0	LAMA4|LAMA4	112615445|112615445	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.043000|0.043000	0.13939|0.13939	3.995000|3.995000	0.57001|0.57001	2.264000|2.264000	0.75181|0.75181	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.527	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		10	33	0	0	0	0	10	33				
RSPH4A	345895	broad.mit.edu	37	6	116938138	116938138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:116938138C>T	ENST00000229554.5	+	1	489	c.352C>T	c.(352-354)Cct>Tct	p.P118S	RSPH4A_ENST00000368580.4_Missense_Mutation_p.P118S|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P118S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	118					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGTGTGATTCCTGAAGCTGG	0.537									Kartagener syndrome																													uc003pxe.2		NA																	0					0						c.(352-354)CCT>TCT		radial spoke head 4 homolog A isoform 1							74.0	75.0	75.0					6																	116938138		2203	4300	6503	SO:0001583	missense	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938138C>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.352C>T	6.37:g.116938138C>T	ENSP00000229554:p.Pro118Ser					RSPH4A_uc010kee.2_Missense_Mutation_p.P118S	p.P118S	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			1	497	+			118					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.352C>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233362	0.22626	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	T;T;T	0.60797	0.16;1.79;1.82	5.32	-4.05	0.03998	.	0.902866	0.09534	N	0.789135	T	0.11537	0.0281	N	0.17082	0.46	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.10450	0.005;0.003	T	0.17623	-1.0363	10	0.26408	T	0.33	-0.0596	0.1756	0.00118	0.2347:0.2437:0.2313:0.2902	.	118;118	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	S	118	ENSP00000357570:P118S;ENSP00000229554:P118S;ENSP00000357569:P118S	ENSP00000229554:P118S	P	+	1	0	RSPH4A	117044831	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.601000	0.02081	-0.701000	0.05063	0.655000	0.94253	CCT		0.537	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		23	78	0	0	0	0	23	78				
ROS1	6098	broad.mit.edu	37	6	117709162	117709162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:117709162C>T	ENST00000368508.3	-	13	1993	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	599	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGGCCTAATTCAAAGAGTTCA	0.438			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(1795-1797)GAA>AAA		proto-oncogene c-ros-1 protein precursor							96.0	97.0	97.0					6																	117709162		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117709162C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1795G>A	6.37:g.117709162C>T	ENSP00000357494:p.Glu599Lys					ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	p.E599K	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	13	1994	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	599			Fibronectin type-III 3.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1795G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	0.142	-1.100871	0.01843	.	.	ENSG00000047936	ENST00000368508	D	0.85556	-2.0	4.03	-5.04	0.02964	.	.	.	.	.	T	0.33702	0.0872	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36456	-0.9747	9	0.05959	T	0.93	.	3.1954	0.06631	0.2171:0.1592:0.4801:0.1437	.	599	P08922	ROS1_HUMAN	K	599	ENSP00000357494:E599K	ENSP00000357494:E599K	E	-	1	0	ROS1	117815855	0.000000	0.05858	0.029000	0.17559	0.723000	0.41478	-1.045000	0.03528	-0.820000	0.04318	-0.397000	0.06425	GAA		0.438	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			31	86	0	0	0	0	31	86				
CLVS2	134829	broad.mit.edu	37	6	123332247	123332247	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:123332247C>T	ENST00000275162.5	+	3	1842	c.507C>T	c.(505-507)ttC>ttT	p.F169F	CLVS2_ENST00000368438.1_Silent_p.F23F	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	169	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTTCACTTTCAAGCAAGCCT	0.413																																						uc003pzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(505-507)TTC>TTT		retinaldehyde binding protein 1-like 2							128.0	112.0	117.0					6																	123332247		2203	4300	6503	SO:0001819	synonymous_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123332247C>T	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.507C>T	6.37:g.123332247C>T							p.F169F	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			3	1376	+			169			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.507C>T	CCDS34525.1																																																																																				0.413	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		14	75	0	0	0	0	14	75				
KIF25	3834	broad.mit.edu	37	6	168434601	168434601	+	Silent	SNP	C	C	T	rs543976901		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:168434601C>T	ENST00000443060.2	+	5	598	c.207C>T	c.(205-207)agC>agT	p.S69S	KIF25_ENST00000351261.3_Silent_p.S69S|KIF25_ENST00000354419.2_Silent_p.S69S			Q9UIL4	KIF25_HUMAN	kinesin family member 25	69	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGACGGGCAGCGGAAAGAGCT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		18754	0.0		0.001	False		,,,				2504	0.0					uc003qwk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(205-207)AGC>AGT		kinesin family member 25 isoform 1							155.0	131.0	139.0					6																	168434601		2203	4300	6503	SO:0001819	synonymous_variant	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168434601C>T	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.207C>T	6.37:g.168434601C>T						KIF25_uc003qwl.1_Silent_p.S69S	p.S69S	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	4	469	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	69			Kinesin-motor.|ATP (By similarity).		O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	c.207C>T	CCDS5305.1																																																																																				0.517	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			15	62	0	0	0	0	15	62				
BBS9	27241	broad.mit.edu	37	7	33296932	33296932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:33296932C>T	ENST00000242067.6	+	6	1048	c.527C>T	c.(526-528)cCt>cTt	p.P176L	BBS9_ENST00000425508.2_Missense_Mutation_p.P131L|BBS9_ENST00000354265.4_Missense_Mutation_p.P176L|BBS9_ENST00000355070.2_Missense_Mutation_p.P176L|BBS9_ENST00000350941.3_Missense_Mutation_p.P176L|BBS9_ENST00000396127.2_Missense_Mutation_p.P176L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	176					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGATTTCTCCCTGGCTTTCTT	0.433									Bardet-Biedl syndrome																													uc003tdn.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(526-528)CCT>CTT		parathyroid hormone-responsive B1 isoform 2							173.0	167.0	169.0					7																	33296932		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33296932C>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.527C>T	7.37:g.33296932C>T	ENSP00000242067:p.Pro176Leu					BBS9_uc003tdo.1_Missense_Mutation_p.P176L|BBS9_uc003tdp.1_Missense_Mutation_p.P176L|BBS9_uc003tdq.1_Missense_Mutation_p.P176L|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.P176L|BBS9_uc011kao.1_Missense_Mutation_p.P54L	p.P176L	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		6	1040	+			176					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.527C>T	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020435	0.93462	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92176	0.7519	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.994;0.996;0.994;1.0	D	0.91557	0.5261	10	0.51188	T	0.08	-21.3995	20.2019	0.98263	0.0:1.0:0.0:0.0	.	176;176;176;176;176	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	L	176;176;176;176;176;176;176;131;54;54	ENSP00000242067:P176L;ENSP00000313122:P176L;ENSP00000379433:P176L;ENSP00000347182:P176L;ENSP00000346214:P176L;ENSP00000405151:P131L;ENSP00000388646:P54L	ENSP00000242067:P176L	P	+	2	0	BBS9	33263457	1.000000	0.71417	0.996000	0.52242	0.782000	0.44232	7.794000	0.85869	2.776000	0.95493	0.655000	0.94253	CCT		0.433	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			19	46	0	0	0	0	19	46				
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		3	Substitution - Missense(3)	p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)	central_nervous_system(3)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(865-867)GCC>ACC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						179.0	143.0	155.0					7																	55221821		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.865G>A	7.37:g.55221821G>A	ENSP00000275493:p.Ala289Thr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289T	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.865G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.992;1.0;1.0;0.999	P;D;D;D;D	0.74023	0.766;0.974;0.976;0.982;0.912	D	0.83919	0.0300	10	0.87932	D	0	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	T	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244T;ENSP00000342376:A289T;ENSP00000345973:A289T;ENSP00000413843:A289T;ENSP00000275493:A289T;ENSP00000410031:A289T;ENSP00000395243:A236T	ENSP00000275493:A289T	A	+	1	0	EGFR	55189315	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.968000	0.87980	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		12	51	0	0	0	0	12	51				
GUSB	2990	broad.mit.edu	37	7	65439597	65439597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:65439597G>A	ENST00000304895.4	-	7	1290	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Missense_Mutation_p.P241L|GUSB_ENST00000345660.6_Missense_Mutation_p.P336L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	387					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTCTGCATAGGGGTAGTGGCT	0.597																																						uc003tun.2		NA																	0					0						c.(1159-1161)CCC>CTC		glucuronidase, beta precursor							101.0	94.0	96.0					7																	65439597		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65439597G>A	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1160C>T	7.37:g.65439597G>A	ENSP00000302728:p.Pro387Leu					GUSB_uc011kdt.1_Missense_Mutation_p.P241L	p.P387L	NM_000181	NP_000172	P08236	BGLR_HUMAN			7	1236	-			387					B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.1160C>T	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463033	0.84425	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.99394	-5.82;-5.82;-5.82	4.52	4.52	0.55395	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, family 2, conserved site (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97717	1.0194	10	0.87932	D	0	.	16.7966	0.85603	0.0:0.0:1.0:0.0	.	241;387	E9PCV0;P08236	.;BGLR_HUMAN	L	387;241;336	ENSP00000302728:P387L;ENSP00000391390:P241L;ENSP00000340734:P336L	ENSP00000302728:P387L	P	-	2	0	GUSB	65077032	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	9.200000	0.95010	2.503000	0.84419	0.561000	0.74099	CCC		0.597	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		19	59	0	0	0	0	19	59				
GSAP	54103	broad.mit.edu	37	7	76950665	76950665	+	Missense_Mutation	SNP	G	G	A	rs6950836		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:76950665G>A	ENST00000257626.7	-	25	2057	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	GSAP_ENST00000441833.2_Intron|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	660					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GAGAACCCAGGAATGAAGATT	0.423																																						uc003ugf.2		NA																	0				central_nervous_system(1)	1						c.(1978-1980)TCC>TTC		pigeon homolog							124.0	120.0	121.0					7																	76950665		1950	4154	6104	SO:0001583	missense	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:76950665G>A		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1979C>T	7.37:g.76950665G>A	ENSP00000257626:p.Ser660Phe					PION_uc011kgo.1_Intron|PION_uc003ugd.2_Missense_Mutation_p.S54F	p.S660F	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			25	2058	-			660					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.1979C>T	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019706	0.54576	.	.	ENSG00000186088	ENST00000257626;ENST00000415112	T;T	0.32272	1.46;1.46	5.46	5.46	0.80206	.	0.440607	0.26824	N	0.022312	T	0.39489	0.1080	L	0.36672	1.1	0.80722	D	1	D	0.56035	0.974	P	0.53593	0.73	T	0.15780	-1.0425	10	0.87932	D	0	.	16.5832	0.84719	0.0:0.0:1.0:0.0	rs6950836;rs6950836	660	A4D1B5	GSAP_HUMAN	F	660;113	ENSP00000257626:S660F;ENSP00000396230:S113F	ENSP00000257626:S660F	S	-	2	0	PION	76788601	0.478000	0.25917	0.018000	0.16275	0.767000	0.43475	3.239000	0.51360	2.721000	0.93114	0.591000	0.81541	TCC		0.423	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		5	21	0	0	0	0	5	21				
GNAT3	346562	broad.mit.edu	37	7	80141221	80141221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:80141221C>T	ENST00000398291.3	-	1	115	c.22G>A	c.(22-24)Gag>Aag	p.E8K	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	8					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TCCTTGCTCTCTGAACTAATT	0.418																																						uc011kgu.1		NA																	0				ovary(1)	1						c.(22-24)GAG>AAG		guanine nucleotide binding protein, alpha							81.0	80.0	80.0					7																	80141221		2071	4220	6291	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80141221C>T		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.22G>A	7.37:g.80141221C>T	ENSP00000381339:p.Glu8Lys					CD36_uc003uhc.2_Intron	p.E8K	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			1	22	-			8					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.22G>A	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490086	0.84962	.	.	ENSG00000214415	ENST00000398291	D	0.89196	-2.48	5.31	4.42	0.53409	.	0.000000	0.85682	U	0.000000	D	0.93337	0.7876	M	0.73217	2.22	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.93129	0.6531	9	.	.	.	.	14.4757	0.67544	0.1487:0.8513:0.0:0.0	.	8	A8MTJ3	GNAT3_HUMAN	K	8	ENSP00000381339:E8K	.	E	-	1	0	GNAT3	79979157	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.923000	0.70045	1.349000	0.45751	0.655000	0.94253	GAG		0.418	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		9	18	0	0	0	0	9	18				
OCM2	4951	broad.mit.edu	37	7	97617811	97617811	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:97617811G>A	ENST00000257627.4	-	2	202	c.111C>T	c.(109-111)tcC>tcT	p.S37S	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	37							calcium ion binding (GO:0005509)			lung(4)	4						CTGACATCTTGGAGAGGCCTG	0.458																																						uc003upc.2		NA																	0					0						c.(109-111)TCC>TCT		oncomodulin-like							169.0	158.0	162.0					7																	97617811		2203	4300	6503	SO:0001819	synonymous_variant	4951						calcium ion binding	g.chr7:97617811G>A	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.111C>T	7.37:g.97617811G>A							p.S37S	NM_006188	NP_006179	P0CE71	OCM2_HUMAN			2	111	-			37					P32930|Q6ISI5|Q75MW0	Silent	SNP	ENST00000257627.4	37	c.111C>T	CCDS5653.1																																																																																				0.458	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		42	128	0	0	0	0	42	128				
PDAP1	11333	broad.mit.edu	37	7	99001128	99001128	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:99001128C>T	ENST00000350498.3	-	3	386	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	36					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTCTTCTTCCTGTTTCAGA	0.453																																						uc003uqe.2		NA																	0					0						c.(106-108)GAA>AAA		PDGFA associated protein 1	Becaplermin(DB00102)						104.0	90.0	95.0					7																	99001128		2203	4300	6503	SO:0001630	splice_region_variant	11333				cell proliferation|signal transduction			g.chr7:99001128C>T	U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.106-1G>A	7.37:g.99001128C>T							p.E36K	NM_014891	NP_055706	Q13442	HAP28_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	227	-	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		36					D6W5S5|Q92906	Missense_Mutation	SNP	ENST00000350498.3	37	c.106G>A	CCDS5662.1	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029612	0.19512	.	.	ENSG00000106244	ENST00000350498	.	.	.	3.84	3.84	0.44239	.	0.413491	0.27258	N	0.020184	T	0.43700	0.1259	L	0.34521	1.04	0.43608	D	0.995973	P	0.34587	0.458	B	0.39152	0.292	T	0.25916	-1.0118	9	0.06236	T	0.91	-24.7228	11.5931	0.50957	0.0:1.0:0.0:0.0	.	36	Q13442	HAP28_HUMAN	K	36	.	ENSP00000222968:E36K	E	-	1	0	PDAP1	98839064	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.247000	0.51422	2.447000	0.82792	0.454000	0.30748	GAA		0.453	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	NM_014891	Missense_Mutation	18	72	0	0	0	0	18	72				
GNB2	2783	broad.mit.edu	37	7	100276155	100276155	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:100276155C>T	ENST00000303210.4	+	9	1316	c.834C>T	c.(832-834)ttC>ttT	p.F278F	GNB2_ENST00000393926.1_Silent_p.F278F|GNB2_ENST00000436220.1_Silent_p.F234F|GNB2_ENST00000427895.1_Silent_p.F178F|GNB2_ENST00000419828.1_Silent_p.F178F|GNB2_ENST00000424361.1_Silent_p.F234F|GNB2_ENST00000393924.1_Silent_p.F278F	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	278					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CTGTTGCCTTCTCGCGCAGCG	0.622																																						uc003uwb.2		NA																	0				ovary(2)	2						c.(832-834)TTC>TTT		guanine nucleotide-binding protein, beta-2							57.0	57.0	57.0					7																	100276155		2203	4300	6503	SO:0001819	synonymous_variant	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100276155C>T	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.834C>T	7.37:g.100276155C>T						GNB2_uc003uwc.2_Silent_p.F234F|GNB2_uc010lhd.2_Silent_p.F234F|GNB2_uc010lhe.2_Silent_p.F234F|GNB2_uc003uwd.2_Silent_p.F178F|GNB2_uc010lhf.2_Silent_p.F178F|GNB2_uc003uwe.2_Silent_p.F278F|GNB2_uc003uwf.2_Silent_p.F178F	p.F278F	NM_005273	NP_005264	P62879	GBB2_HUMAN			9	1107	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	278			WD 6.		B3KPU1|P11016|P54312	Silent	SNP	ENST00000303210.4	37	c.834C>T	CCDS5703.1																																																																																				0.622	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		19	48	0	0	0	0	19	48				
GIGYF1	64599	broad.mit.edu	37	7	100280033	100280033	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:100280033C>T	ENST00000275732.5	-	21	3882	c.2673G>A	c.(2671-2673)ctG>ctA	p.L891L	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	891					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGCCCTGCAGCAGCTTCAGCA	0.637																																						uc003uwg.1		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2671-2673)CTG>CTA		PERQ amino acid rich, with GYF domain 1							65.0	54.0	58.0					7																	100280033		2203	4300	6503	SO:0001819	synonymous_variant	64599							g.chr7:100280033C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2673G>A	7.37:g.100280033C>T							p.L891L	NM_022574	NP_072096	O75420	PERQ1_HUMAN			21	3682	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		891					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.2673G>A	CCDS34708.1																																																																																				0.637	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		8	42	0	0	0	0	8	42				
CUX1	1523	broad.mit.edu	37	7	101559408	101559408	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:101559408C>A	ENST00000292535.7	+	2	82	c.44C>A	c.(43-45)gCc>gAc	p.A15D	CUX1_ENST00000546411.2_Missense_Mutation_p.A15D|CUX1_ENST00000425244.2_Missense_Mutation_p.A26D|CUX1_ENST00000437600.4_Missense_Mutation_p.A26D|CUX1_ENST00000550008.2_Missense_Mutation_p.A15D|CUX1_ENST00000360264.3_Missense_Mutation_p.A26D|CUX1_ENST00000292538.4_Missense_Mutation_p.A26D|CUX1_ENST00000549414.2_Missense_Mutation_p.A15D|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Missense_Mutation_p.A15D|CUX1_ENST00000547394.2_Missense_Mutation_p.A26D	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	15					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAACTCGATGCCACCGCAACG	0.498																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(43-45)GCC>GAC		cut-like homeobox 1 isoform a							155.0	149.0	151.0					7																	101559408		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101559408C>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.44C>A	7.37:g.101559408C>A	ENSP00000292535:p.Ala15Asp					CUX1_uc003uys.3_Missense_Mutation_p.A26D|CUX1_uc003uyt.2_Missense_Mutation_p.A26D|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Missense_Mutation_p.A26D|CUX1_uc003uyv.2_Missense_Mutation_p.A26D|CUX1_uc003uyu.2_Missense_Mutation_p.A26D	p.A15D	NM_181552	NP_853530	P39880	CUX1_HUMAN			2	82	+			15			Potential.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.44C>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651536	0.47362	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.31247	1.56;1.5;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000003	T	0.38931	0.1059	N	0.17723	0.515	0.80722	D	1	P;D;B;D;B;D	0.59357	0.954;0.961;0.061;0.977;0.068;0.985	P;P;B;P;B;P	0.59546	0.726;0.617;0.012;0.787;0.009;0.859	T	0.19844	-1.0293	10	0.54805	T	0.06	-22.7535	18.0348	0.89296	0.0:1.0:0.0:0.0	.	15;26;26;26;26;26	P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	CUX1_HUMAN;.;.;.;CASP_HUMAN;.	D	26;26;26;26;26;26;15;15;15;15;15	ENSP00000292538:A26D;ENSP00000449371:A26D;ENSP00000353401:A26D;ENSP00000409745:A26D;ENSP00000414091:A26D;ENSP00000292535:A15D;ENSP00000446630:A15D;ENSP00000447373:A15D;ENSP00000450125:A15D;ENSP00000451558:A15D	ENSP00000292535:A15D	A	+	2	0	CUX1	101346128	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.244000	0.65400	2.686000	0.91538	0.655000	0.94253	GCC		0.498	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		39	146	1	0	1.15e-24	3.24e-24	39	146				
CTTNBP2	83992	broad.mit.edu	37	7	117375087	117375087	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:117375087G>A	ENST00000160373.3	-	16	3847	c.3756C>T	c.(3754-3756)gcC>gcT	p.A1252A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1252					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGAGACAGGCCTTGGCGA	0.537																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(3754-3756)GCC>GCT		cortactin binding protein 2							65.0	69.0	68.0					7																	117375087		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117375087G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3756C>T	7.37:g.117375087G>A							p.A1252A	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	16	3848	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1252					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.3756C>T	CCDS5774.1																																																																																				0.537	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		6	45	0	0	0	0	6	45				
LRRC4	64101	broad.mit.edu	37	7	127669962	127669962	+	Silent	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127669962G>C	ENST00000249363.3	-	2	989	c.732C>G	c.(730-732)ctC>ctG	p.L244L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	244					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGAGCTTCTTGAGGGAGCTCA	0.572																																						uc003vmk.2		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(730-732)CTC>CTG		leucine rich repeat containing 4 precursor							44.0	39.0	41.0					7																	127669962		2202	4300	6502	SO:0001819	synonymous_variant	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127669962G>C	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.732C>G	7.37:g.127669962G>C						SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	p.L244L	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	869	-			244			Extracellular (Potential).|LRR 8.		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	37	c.732C>G	CCDS5799.1																																																																																				0.572	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		17	40	0	0	0	0	17	40				
LRRC4	64101	broad.mit.edu	37	7	127670131	127670131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127670131G>C	ENST00000249363.3	-	2	820	c.563C>G	c.(562-564)tCt>tGt	p.S188C	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	188					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGCTCCCTCAGAGATATACTC	0.557																																						uc003vmk.2		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(562-564)TCT>TGT		leucine rich repeat containing 4 precursor							40.0	43.0	42.0					7																	127670131		2201	4296	6497	SO:0001583	missense	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670131G>C	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.563C>G	7.37:g.127670131G>C	ENSP00000249363:p.Ser188Cys					SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	p.S188C	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	700	-			188			LRR 5.|Extracellular (Potential).		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	c.563C>G	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387571	0.61956	.	.	ENSG00000128594	ENST00000249363	D	0.91945	-2.94	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000002	D	0.96920	0.8994	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97854	1.0276	10	0.87932	D	0	.	14.8699	0.70448	0.0:0.0:1.0:0.0	.	188	Q9HBW1	LRRC4_HUMAN	C	188	ENSP00000249363:S188C	ENSP00000249363:S188C	S	-	2	0	LRRC4	127457367	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	9.590000	0.98238	2.316000	0.78162	0.655000	0.94253	TCT		0.557	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		14	57	0	0	0	0	14	57				
LRRC4	64101	broad.mit.edu	37	7	127670193	127670193	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127670193G>A	ENST00000249363.3	-	2	758	c.501C>T	c.(499-501)ttC>ttT	p.F167F	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	167					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCACCCGGTTGAAGGCGTAAG	0.572																																						uc003vmk.2		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(499-501)TTC>TTT		leucine rich repeat containing 4 precursor							63.0	68.0	67.0					7																	127670193		2203	4300	6503	SO:0001819	synonymous_variant	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670193G>A	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.501C>T	7.37:g.127670193G>A						SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	p.F167F	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	638	-			167			LRR 4.|Extracellular (Potential).		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	37	c.501C>T	CCDS5799.1																																																																																				0.572	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		20	79	0	0	0	0	20	79				
KDM7A	80853	broad.mit.edu	37	7	139801957	139801957	+	Missense_Mutation	SNP	C	C	T	rs199627366		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:139801957C>T	ENST00000397560.2	-	12	1529	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	JHDM1D_ENST00000006967.5_Missense_Mutation_p.E478K	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		478					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTGCCGTTTTCCTCCTTTAAG	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		18509	0.0		0.001	False		,,,				2504	0.0					uc003vvm.2		NA																	0				ovary(1)	1						c.(1432-1434)GAA>AAA		jumonji C domain containing histone demethylase							113.0	103.0	106.0					7																	139801957		1821	4077	5898	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139801957C>T																												ENST00000397560.2:c.1432G>A	7.37:g.139801957C>T	ENSP00000380692:p.Glu478Lys					JHDM1D_uc010lng.2_RNA	p.E478K	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			12	1436	-	Melanoma(164;0.0142)		478					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.1432G>A	CCDS43658.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.85	2.358911	0.41801	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.53206	0.63;0.63	5.58	5.58	0.84498	.	0.478838	0.22652	N	0.057320	T	0.30039	0.0752	N	0.22421	0.69	0.52501	D	0.999953	P	0.44734	0.842	B	0.30251	0.113	T	0.16689	-1.0394	10	0.12766	T	0.61	-25.7648	19.5567	0.95351	0.0:1.0:0.0:0.0	.	478	Q6ZMT4	KDM7_HUMAN	K	478	ENSP00000380692:E478K;ENSP00000006967:E478K	ENSP00000006967:E478K	E	-	1	0	JHDM1D	139448426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.809000	0.69172	2.615000	0.88500	0.655000	0.94253	GAA		0.348	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			25	62	0	0	0	0	25	62				
CNTNAP2	26047	broad.mit.edu	37	7	148112633	148112633	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:148112633G>A	ENST00000361727.3	+	24	4437	c.3921G>A	c.(3919-3921)gcG>gcA	p.A1307A	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.A366A	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1307					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGAGAGCGCGGACGCCGCCA	0.552										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3919-3921)GCG>GCA		cell recognition molecule Caspr2 precursor							101.0	89.0	94.0					7																	148112633		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:148112633G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3921G>A	7.37:g.148112633G>A		HNSCC(39;0.1)				CNTNAP2_uc003wev.1_Silent_p.A84A	p.A1307A	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		24	4437	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1307			Cytoplasmic (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.3921G>A	CCDS5889.1																																																																																				0.552	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			15	58	0	0	0	0	15	58				
EZH2	2146	broad.mit.edu	37	7	148515125	148515125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:148515125G>A	ENST00000460911.1	-	10	1157	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	EZH2_ENST00000320356.2_Missense_Mutation_p.R362W|EZH2_ENST00000541220.1_Missense_Mutation_p.R348W|RNU7-20P_ENST00000515903.1_RNA|EZH2_ENST00000350995.2_Missense_Mutation_p.R318W|EZH2_ENST00000483967.1_Missense_Mutation_p.R348W|EZH2_ENST00000476773.1_Missense_Mutation_p.R348W|EZH2_ENST00000478654.1_Missense_Mutation_p.R348W			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	357	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTGGGAAGCCGTCCTCTTCTG	0.537			Mis		DLBCL																																	uc003wfd.1		NA		Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1069-1071)CGG>TGG		enhancer of zeste 2 isoform a							132.0	121.0	125.0					7																	148515125		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148515125G>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1069C>T	7.37:g.148515125G>A	ENSP00000419711:p.Arg357Trp					EZH2_uc011kug.1_Missense_Mutation_p.R348W|EZH2_uc003wfb.1_Missense_Mutation_p.R362W|EZH2_uc003wfc.1_Missense_Mutation_p.R318W|EZH2_uc011kuh.1_Missense_Mutation_p.R348W|EZH2_uc011kui.1_Missense_Mutation_p.R357W|EZH2_uc011kuj.1_RNA	p.R357W	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		10	1235	-	Melanoma(164;0.15)		357					B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1069C>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	g	18.61	3.661084	0.67700	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.78	-0.493	0.12038	.	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.992;0.992;0.994;0.992;0.996	P;P;P;P;P;P	0.56088	0.791;0.761;0.761;0.677;0.761;0.721	T	0.79862	-0.1624	10	0.72032	D	0.01	.	16.9486	0.86237	0.0:0.0:0.2927:0.7073	.	357;348;348;357;318;362	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	W	348;362;357;318;348;348;348	ENSP00000417062:R348W;ENSP00000320147:R362W;ENSP00000419711:R357W;ENSP00000223193:R318W;ENSP00000443219:R348W;ENSP00000419050:R348W;ENSP00000419856:R348W	ENSP00000320147:R362W	R	-	1	2	EZH2	148146058	0.325000	0.24660	0.025000	0.17156	0.996000	0.88848	0.624000	0.24462	-0.017000	0.14103	0.563000	0.77884	CGG		0.537	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		25	104	0	0	0	0	25	104				
DEFA4	1669	broad.mit.edu	37	8	6794389	6794389	+	Silent	SNP	G	G	T	rs201946056		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:6794389G>T	ENST00000297435.2	-	2	157	c.33C>A	c.(31-33)ctC>ctA	p.L11L		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	11					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGGCTACCAAGAGAATAGCAG	0.602																																						uc003wqu.1		NA																	0				large_intestine(1)	1						c.(31-33)CTC>CTA		defensin, alpha 4 preproprotein							46.0	43.0	44.0					8																	6794389		2203	4300	6503	SO:0001819	synonymous_variant	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6794389G>T	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.33C>A	8.37:g.6794389G>T							p.L11L	NM_001925	NP_001916	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	84	-			11					Q6EZF8	Silent	SNP	ENST00000297435.2	37	c.33C>A	CCDS5961.1																																																																																				0.602	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		8	37	1	0	0.000157383	0.000401626	8	37				
SH2D4A	63898	broad.mit.edu	37	8	19231062	19231062	+	Silent	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:19231062A>G	ENST00000265807.3	+	8	1350	c.939A>G	c.(937-939)acA>acG	p.T313T	SH2D4A_ENST00000519207.1_Silent_p.T313T|SH2D4A_ENST00000518040.1_Silent_p.T268T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	313					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TGGTGAGGACACTGTCCAGCT	0.408																																						uc003wzb.2		NA																	0					0						c.(937-939)ACA>ACG		SH2 domain containing 4A							70.0	59.0	62.0					8																	19231062		2203	4300	6503	SO:0001819	synonymous_variant	63898					cytoplasm|nucleus	protein binding	g.chr8:19231062A>G	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.939A>G	8.37:g.19231062A>G						SH2D4A_uc011kym.1_Silent_p.T268T|SH2D4A_uc003wzc.2_Silent_p.T313T	p.T313T	NM_022071	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	8	1275	+			313					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Silent	SNP	ENST00000265807.3	37	c.939A>G	CCDS6009.1																																																																																				0.408	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		10	28	0	0	0	0	10	28				
CSGALNACT1	55790	broad.mit.edu	37	8	19362961	19362961	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:19362961C>A	ENST00000454498.2	-	4	1398	c.385G>T	c.(385-387)Gac>Tac	p.D129Y	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D129Y	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	129					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TCTGCCTTGTCCACCTGCGAG	0.597																																						uc011kyn.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(385-387)GAC>TAC		chondroitin sulfate							62.0	61.0	61.0					8																	19362961		2203	4300	6503	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19362961C>A	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.385G>T	8.37:g.19362961C>A	ENSP00000411816:p.Asp129Tyr					CSGALNACT1_uc011kyo.1_Missense_Mutation_p.D129Y|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.D128Y|CSGALNACT1_uc003wzh.2_RNA	p.D129Y	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	4	1449	-			129			Lumenal (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.385G>T	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526867	0.44969	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.39	4.51	0.55191	.	0.479512	0.25089	N	0.033236	T	0.37839	0.1018	M	0.81802	2.56	0.35526	D	0.801868	P	0.45531	0.86	P	0.53988	0.739	T	0.51655	-0.8678	10	0.02654	T	1	-27.969	9.3958	0.38401	0.0:0.8362:0.0:0.1638	.	129	Q8TDX6	CGAT1_HUMAN	Y	129	ENSP00000411816:D129Y;ENSP00000330805:D129Y;ENSP00000310891:D129Y;ENSP00000429809:D129Y;ENSP00000442155:D129Y	ENSP00000310891:D129Y	D	-	1	0	CSGALNACT1	19407241	1.000000	0.71417	0.996000	0.52242	0.450000	0.32258	0.997000	0.29731	1.419000	0.47118	0.563000	0.77884	GAC		0.597	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		25	73	1	0	3.65e-15	1.01e-14	25	73				
PTK2B	2185	broad.mit.edu	37	8	27289833	27289833	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:27289833G>A	ENST00000397501.1	+	15	1750	c.942G>A	c.(940-942)gaG>gaA	p.E314E	PTK2B_ENST00000346049.5_Silent_p.E314E|PTK2B_ENST00000397497.4_Silent_p.E60E|PTK2B_ENST00000544172.1_Silent_p.E314E|PTK2B_ENST00000420218.2_Silent_p.E314E|PTK2B_ENST00000517339.1_Silent_p.E314E|PTK2B_ENST00000338238.4_Silent_p.E314E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	314	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCCCGCTGGAGGAGGGCCAGG	0.622																																						uc003xfn.1		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.(940-942)GAG>GAA		PTK2B protein tyrosine kinase 2 beta isoform a							47.0	42.0	44.0					8																	27289833		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27289833G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.942G>A	8.37:g.27289833G>A						PTK2B_uc003xfo.1_Silent_p.E314E|PTK2B_uc003xfp.1_Silent_p.E314E|PTK2B_uc003xfq.1_Silent_p.E314E|PTK2B_uc010luq.1_Silent_p.E85E|PTK2B_uc003xfr.1_Silent_p.E60E	p.E314E	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	15	1750	+		Ovarian(32;2.72e-05)	314			FERM.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.942G>A	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	1.747	-0.490151	0.04322	.	.	ENSG00000120899	ENST00000519512	.	.	.	4.64	-0.65	0.11457	.	.	.	.	.	T	0.54095	0.1837	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46992	-0.9151	4	.	.	.	.	8.0557	0.30604	0.6484:0.0:0.3516:0.0	.	.	.	.	R	88	.	.	G	+	1	0	PTK2B	27345750	0.995000	0.38212	0.996000	0.52242	0.156000	0.22039	0.318000	0.19504	-0.031000	0.13781	-0.216000	0.12614	GGA		0.622	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		7	28	0	0	0	0	7	28				
PROSC	11212	broad.mit.edu	37	8	37623261	37623261	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:37623261C>A	ENST00000328195.3	+	3	307	c.240C>A	c.(238-240)ccC>ccA	p.P80P		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	80					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)	p.P80P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	CATCAAATCCCAAAGTAAGTA	0.383																																						uc003xkh.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(238-240)CCC>CCA		proline synthetase co-transcribed homolog	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)						173.0	185.0	181.0					8																	37623261		2203	4300	6503	SO:0001819	synonymous_variant	11212						pyridoxal phosphate binding	g.chr8:37623261C>A	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.240C>A	8.37:g.37623261C>A							p.P80P	NM_007198	NP_009129	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		3	317	+		Lung NSC(58;0.174)	80					Q6FI94	Silent	SNP	ENST00000328195.3	37	c.240C>A	CCDS6096.1	.	.	.	.	.	.	.	.	.	.	C	9.568	1.120352	0.20877	.	.	ENSG00000147471	ENST00000521494	.	.	.	5.74	1.9	0.25705	.	0.191058	0.47455	D	0.000227	T	0.47488	0.1448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40515	-0.9559	6	0.48119	T	0.1	-6.0709	0.8881	0.01249	0.3494:0.1374:0.1221:0.3912	.	.	.	.	Q	49	.	ENSP00000429144:P49Q	P	+	2	0	PROSC	37742419	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	0.618000	0.24373	0.070000	0.16634	-0.294000	0.09567	CCA		0.383	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198		6	222	1	0	0.00116845	0.00292395	6	222				
ADRB3	155	broad.mit.edu	37	8	37823854	37823854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:37823854G>A	ENST00000345060.3	-	1	629	c.134C>T	c.(133-135)gCg>gTg	p.A45V	ADRB3_ENST00000520341.1_5'Flank	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	45					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726)	CACCGCCAGCGCCAGCAGGGC	0.697																																						uc003xkr.1		NA																	0				lung(2)	2						c.(133-135)GCG>GTG		adrenergic, beta-3-, receptor	Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)						14.0	17.0	16.0					8																	37823854		2191	4284	6475	SO:0001583	missense	155				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity	g.chr8:37823854G>A	AY487247	CCDS6099.1	8p12	2012-08-08	2012-05-09			ENSG00000188778		"""GPCR / Class A : Adrenoceptors : beta"""	288	protein-coding gene	gene with protein product		109691	"""adrenergic, beta-3-, receptor"""			7898940, 15123695	Standard	NM_000025		Approved		uc003xkr.2	P13945		ENST00000345060.3:c.134C>T	8.37:g.37823854G>A	ENSP00000343782:p.Ala45Val						p.A45V	NM_000025	NP_000016	P13945	ADRB3_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		1	331	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	45			Helical; Name=1; (By similarity).		Q4JFT4	Missense_Mutation	SNP	ENST00000345060.3	37	c.134C>T	CCDS6099.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297086	0.60086	.	.	ENSG00000188778	ENST00000345060	T	0.36699	1.24	4.05	4.05	0.47172	.	0.326738	0.28515	N	0.015067	T	0.54127	0.1839	M	0.66939	2.045	0.34989	D	0.754875	D	0.89917	1.0	D	0.80764	0.994	T	0.63963	-0.6518	10	0.41790	T	0.15	.	11.0881	0.48099	0.0928:0.0:0.9072:0.0	.	45	P13945	ADRB3_HUMAN	V	45	ENSP00000343782:A45V	ENSP00000343782:A45V	A	-	2	0	ADRB3	37943011	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.211000	0.51137	2.255000	0.74692	0.462000	0.41574	GCG		0.697	ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376826.1	NM_000025		8	22	0	0	0	0	8	22				
MATN2	4147	broad.mit.edu	37	8	99039681	99039681	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:99039681C>T	ENST00000520016.1	+	13	2104	c.1980C>T	c.(1978-1980)atC>atT	p.I660I	MATN2_ENST00000524308.1_Silent_p.I619I|MATN2_ENST00000254898.5_Silent_p.I660I|MATN2_ENST00000522025.2_Silent_p.I376I|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000521689.1_Silent_p.I660I			O00339	MATN2_HUMAN	matrilin 2	660	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.I660I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCTTTGTGATCGATGGATCCA	0.403																																						uc003yic.2		NA																	2	Substitution - coding silent(2)		large_intestine(2)	ovary(2)	2						c.(1978-1980)ATC>ATT		matrilin 2 isoform a precursor							92.0	91.0	91.0					8																	99039681		1848	4092	5940	SO:0001819	synonymous_variant	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99039681C>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1980C>T	8.37:g.99039681C>T						MATN2_uc010mbh.1_Silent_p.I619I|MATN2_uc003yid.2_Silent_p.I660I|MATN2_uc003yie.1_Silent_p.I660I|MATN2_uc010mbi.1_Silent_p.I493I|MATN2_uc010mbj.1_Intron|RPL30_uc010mbk.1_Intron	p.I660I	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		14	2211	+	Breast(36;1.43e-06)		660			VWFA 2.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	c.1980C>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	9.014	0.983283	0.18889	.	.	ENSG00000132561	ENST00000518154;ENST00000517321	.	.	.	5.0	-4.97	0.03029	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.2025	10.6386	0.45579	0.0856:0.2617:0.0:0.6527	.	.	.	.	X	443;94	.	.	R	+	1	2	MATN2	99108857	0.697000	0.27767	0.941000	0.38009	0.961000	0.63080	-0.123000	0.10611	-0.961000	0.03609	-0.350000	0.07774	CGA		0.403	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			26	85	0	0	0	0	26	85				
COL14A1	7373	broad.mit.edu	37	8	121267542	121267542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:121267542G>A	ENST00000297848.3	+	23	3086	c.2816G>A	c.(2815-2817)tGg>tAg	p.W939*	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.W939*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.W844*	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGTGCCCACTGGCAGGTACAT	0.438																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2815-2817)TGG>TAG		collagen, type XIV, alpha 1 precursor							167.0	145.0	152.0					8																	121267542		2203	4300	6503	SO:0001587	stop_gained	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121267542G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2816G>A	8.37:g.121267542G>A	ENSP00000297848:p.Trp939*					COL14A1_uc003yoy.2_Nonsense_Mutation_p.W617*	p.W939*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		23	3081	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		939			Fibronectin type-III 8.			Nonsense_Mutation	SNP	ENST00000297848.3	37	c.2816G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	39	7.404425	0.98262	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.263	0.98456	0.0:0.0:1.0:0.0	.	.	.	.	X	939;939;844;752	.	ENSP00000247781:W844X	W	+	2	0	COL14A1	121336723	1.000000	0.71417	0.987000	0.45799	0.892000	0.51952	9.015000	0.93640	2.868000	0.98415	0.555000	0.69702	TGG		0.438	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		36	96	0	0	0	0	36	96				
ARC	23237	broad.mit.edu	37	8	143695543	143695543	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:143695543C>G	ENST00000356613.2	-	1	1290	c.90G>C	c.(88-90)caG>caC	p.Q30H	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	138	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTTCCCGATCTGCAGGATCA	0.726																																						uc003ywn.1		NA																	0				breast(1)	1						c.(88-90)CAG>CAC		activity-regulated cytoskeleton-associated							11.0	11.0	11.0					8																	143695543		2195	4281	6476	SO:0001583	missense	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143695543C>G	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.90G>C	8.37:g.143695543C>G	ENSP00000349022:p.Gln30His						p.Q30H	NM_015193	NP_056008	Q7LC44	ARC_HUMAN			1	291	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	30					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	c.90G>C	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575689	0.65878	.	.	ENSG00000198576	ENST00000356613	T	0.34472	1.36	4.02	3.12	0.35913	.	0.000000	0.49916	U	0.000122	T	0.28167	0.0695	L	0.27053	0.805	0.38271	D	0.942151	B	0.32573	0.376	B	0.36845	0.234	T	0.22591	-1.0212	10	0.87932	D	0	.	11.0489	0.47876	0.0:0.9058:0.0:0.0942	.	30	Q7LC44	ARC_HUMAN	H	30	ENSP00000349022:Q30H	ENSP00000349022:Q30H	Q	-	3	2	ARC	143692545	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.308000	0.43690	0.649000	0.30751	0.563000	0.77884	CAG		0.726	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			4	19	0	0	0	0	4	19				
JRK	8629	broad.mit.edu	37	8	143746149	143746149	+	RNA	SNP	C	C	T	rs376782719		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:143746149C>T	ENST00000507178.2	-	0	1661							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cctcccttcccgctacccccc	0.647																																						uc003ywo.2		NA																	0					0						c.(1327-1329)GCG>GCA		jerky isoform b		C	,	0,3900		0,0,1950	11.0	12.0	12.0		1329,1329	-6.8	0.0	8		12	1,8189		0,1,4094	no	coding-synonymous,coding-synonymous	JRK	NM_001077527.1,NM_003724.2	,	0,1,6044	TT,TC,CC		0.0122,0.0,0.0083	,	443/557,443/569	143746149	1,12089	1950	4095	6045			8629							g.chr8:143746149C>T	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746149C>T						JRK_uc003ywp.2_Silent_p.A443A|JRK_uc010mew.1_Silent_p.A443A	p.A443A	NM_001077527	NP_001070995					2	1843	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)						O75565	Silent	SNP	ENST00000507178.2	37	c.1329G>A																																																																																					0.647	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		5	12	0	0	0	0	5	12				
GPIHBP1	338328	broad.mit.edu	37	8	144297245	144297245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:144297245G>A	ENST00000330824.2	+	4	482	c.407G>A	c.(406-408)tGc>tAc	p.C136Y		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	136	UPAR/Ly6.				cholesterol homeostasis (GO:0042632)|intracellular protein transport (GO:0006886)|positive regulation of chylomicron remnant clearance (GO:0090321)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein import (GO:0017038)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|protein transmembrane transport (GO:0071806)|response to heparin (GO:0071503)|transcytosis (GO:0045056)|triglyceride homeostasis (GO:0070328)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|external side of plasma membrane (GO:0009897)|high-density lipoprotein particle (GO:0034364)	chylomicron binding (GO:0035478)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|protein transmembrane transporter activity (GO:0008320)			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCAGCCTGTGCAATGTCCCA	0.672																																						uc003yxu.1		NA																	0					0						c.(406-408)TGC>TAC		glycosylphosphatidylinositol anchored high							68.0	68.0	68.0					8																	144297245		2202	4299	6501	SO:0001583	missense	338328				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity	g.chr8:144297245G>A	AF088057	CCDS34954.1	8q24.3	2014-07-14	2008-02-07						24945	protein-coding gene	gene with protein product	"""endothelial cell LPL transporter"""	612757	"""GPI anchored high density lipoprotein binding protein 1"""			12496272, 17883852, 17620854, 17403372	Standard	NM_178172		Approved	LOC338328, GPI-HBP1	uc003yxu.2	Q8IV16		ENST00000330824.2:c.407G>A	8.37:g.144297245G>A	ENSP00000329266:p.Cys136Tyr						p.C136Y	NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN			4	482	+	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		136			UPAR/Ly6.		Q6P3T2|Q86W15	Missense_Mutation	SNP	ENST00000330824.2	37	c.407G>A	CCDS34954.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229909	0.39399	.	.	ENSG00000182851	ENST00000330824	D	0.99594	-6.25	4.39	4.39	0.52855	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.112963	0.39759	N	0.001272	D	0.99483	0.9816	M	0.79475	2.455	0.44275	D	0.997134	D	0.69078	0.997	D	0.70227	0.968	D	0.98160	1.0446	10	0.87932	D	0	-5.808	12.8246	0.57712	0.0:0.0:1.0:0.0	.	136	Q8IV16	HDBP1_HUMAN	Y	136	ENSP00000329266:C136Y	ENSP00000329266:C136Y	C	+	2	0	GPIHBP1	144368620	1.000000	0.71417	0.935000	0.37517	0.031000	0.12232	2.809000	0.47971	2.138000	0.66242	0.455000	0.32223	TGC		0.672	GPIHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381113.1	NM_178172		22	65	0	0	0	0	22	65				
ABHD17B	51104	broad.mit.edu	37	9	74489807	74489807	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:74489807C>A	ENST00000333421.6	-	2	301	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	ABHD17B_ENST00000377041.2_Missense_Mutation_p.D64Y	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	64						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										TCAATAGCATCTTTTTCTCTA	0.413																																						uc004aim.1		NA																	0					0						c.(190-192)GAT>TAT		family with sequence similarity 108, member B1							160.0	147.0	151.0					9																	74489807		2203	4300	6503	SO:0001583	missense	51104					extracellular region	hydrolase activity	g.chr9:74489807C>A	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.190G>T	9.37:g.74489807C>A	ENSP00000330222:p.Asp64Tyr					FAM108B1_uc004ail.2_Missense_Mutation_p.D64Y	p.D64Y	NM_001025780	NP_001020951	Q5VST6	F108B_HUMAN			2	792	-			64					A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.190G>T	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003256	0.93287	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.39056	1.1;1.1	6.17	6.17	0.99709	.	0.042667	0.85682	D	0.000000	T	0.68860	0.3047	M	0.87827	2.91	0.80722	D	1	P;D	0.58970	0.897;0.984	P;P	0.58873	0.707;0.847	T	0.72117	-0.4387	10	0.87932	D	0	0.3791	20.8794	0.99867	0.0:1.0:0.0:0.0	.	64;64	Q5VST6;Q5VST6-2	F108B_HUMAN;.	Y	64	ENSP00000366240:D64Y;ENSP00000330222:D64Y	ENSP00000330222:D64Y	D	-	1	0	FAM108B1	73679627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GAT		0.413	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		7	70	1	0	5.18e-06	1.36e-05	7	70				
CRB2	286204	broad.mit.edu	37	9	126136903	126136903	+	Silent	SNP	C	C	T	rs148933240		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:126136903C>T	ENST00000373631.3	+	11	3436	c.3435C>T	c.(3433-3435)ctC>ctT	p.L1145L	CRB2_ENST00000373629.2_Silent_p.L813L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1145	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.L1145L(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCACCTGCCTCGATGGCAGCC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		20176	0.001		0.0	False		,,,				2504	0.0					uc004bnx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3433-3435)CTC>CTT		crumbs homolog 2 precursor		C		1,4405		0,1,2202	72.0	62.0	65.0		3435	1.9	0.1	9	dbSNP_134	65	4,8596		0,4,4296	no	coding-synonymous	CRB2	NM_173689.5		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		1145/1286	126136903	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126136903C>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3435C>T	9.37:g.126136903C>T							p.L1145L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			11	3527	+			1145			Extracellular (Potential).|EGF-like 14.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	c.3435C>T	CCDS6852.2																																																																																				0.657	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		20	28	0	0	0	0	20	28				
LAMC3	10319	broad.mit.edu	37	9	133932455	133932455	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:133932455G>A	ENST00000361069.4	+	12	2212	c.2079G>A	c.(2077-2079)agG>agA	p.R693R	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	693	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GATACAAGAGGGAGATGCCAC	0.612																																						uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(2077-2079)AGG>AGA		laminin, gamma 3 precursor							90.0	91.0	91.0					9																	133932455		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133932455G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2079G>A	9.37:g.133932455G>A							p.R693R	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	12	2177	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	693			Laminin EGF-like 5; second part.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.2079G>A	CCDS6938.1																																																																																				0.612	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		23	67	0	0	0	0	23	67				
NHS	4810	broad.mit.edu	37	X	17744773	17744773	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:17744773G>A	ENST00000380060.3	+	6	2822	c.2484G>A	c.(2482-2484)ccG>ccA	p.P828P	NHS_ENST00000398097.3_Silent_p.P672P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	849					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGGCAAAGCCGACCCCACCTA	0.502																																						uc004cxx.2		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2482-2484)CCG>CCA		Nance-Horan syndrome protein isoform 1							121.0	115.0	117.0					X																	17744773		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17744773G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2484G>A	X.37:g.17744773G>A						NHS_uc011mix.1_Silent_p.P849P|NHS_uc004cxy.2_Silent_p.P672P|NHS_uc004cxz.2_Silent_p.P651P|NHS_uc004cya.2_Silent_p.P551P	p.P828P	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	2822	+	Hepatocellular(33;0.183)		828					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.2484G>A	CCDS14181.1																																																																																				0.502	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		29	141	0	0	0	0	29	141				
SRPX	8406	broad.mit.edu	37	X	38009042	38009042	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:38009042G>A	ENST00000378533.3	-	10	1423	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	SRPX_ENST00000432886.2_Silent_p.F380F|SRPX_ENST00000544439.1_Silent_p.F419F|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000538295.1_3'UTR|SRPX_ENST00000343800.6_Silent_p.F426F|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	439					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CAATCAGGTTGAACAGGGCCA	0.498																																						uc004ddy.1		NA																	0					0						c.(1315-1317)TTC>TTT		sushi-repeat-containing protein, X-linked							162.0	112.0	129.0					X																	38009042		2202	4300	6502	SO:0001819	synonymous_variant	8406				cell adhesion	cell surface|membrane		g.chrX:38009042G>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.1317C>T	X.37:g.38009042G>A						SRPX_uc004ddz.1_Silent_p.F419F|SRPX_uc011mkh.1_Silent_p.F380F|SRPX_uc011mki.1_3'UTR	p.F439F	NM_006307	NP_006298	P78539	SRPX_HUMAN			10	1403	-			439					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	ENST00000378533.3	37	c.1317C>T	CCDS14245.1																																																																																				0.498	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		18	48	0	0	0	0	18	48				
MAOB	4129	broad.mit.edu	37	X	43652760	43652760	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:43652760C>A	ENST00000378069.4	-	8	981	c.834G>T	c.(832-834)ctG>ctT	p.L278L	MAOB_ENST00000536181.1_Silent_p.L262L|MAOB_ENST00000538942.1_Silent_p.L262L	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	278					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TCATCATTGGCAGAGGGGGAT	0.413																																						uc004dfz.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(832-834)CTG>CTT		monoamine oxidase B	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						126.0	104.0	112.0					X																	43652760		2203	4300	6503	SO:0001819	synonymous_variant	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43652760C>A		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.834G>T	X.37:g.43652760C>A						MAOB_uc011mkx.1_Silent_p.L262L|MAOB_uc011mky.1_Silent_p.L262L	p.L278L	NM_000898	NP_000889	P27338	AOFB_HUMAN			8	1010	-			278			Cytoplasmic.		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Silent	SNP	ENST00000378069.4	37	c.834G>T	CCDS14261.1																																																																																				0.413	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		24	63	1	0	1.43e-11	3.89e-11	24	63				
TFE3	7030	broad.mit.edu	37	X	48891046	48891046	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:48891046C>T	ENST00000315869.7	-	8	1329	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	357	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GAATCGCCTGCGACGCTCAAC	0.532			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	uc004dmb.3		NA		Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	0				soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.(1069-1071)CGC>CAC		transcription factor E3							78.0	61.0	67.0					X																	48891046		2203	4300	6503	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48891046C>T	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1070G>A	X.37:g.48891046C>T	ENSP00000314129:p.Arg357His					TFE3_uc004dmc.3_Missense_Mutation_p.R252H|TFE3_uc004dme.1_RNA	p.R357H	NM_006521	NP_006512	P19532	TFE3_HUMAN			8	1308	-			357			Basic motif.		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.1070G>A	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	c	28.8	4.951760	0.92660	.	.	ENSG00000068323	ENST00000315869	D	0.98493	-4.96	5.53	4.67	0.58626	Helix-loop-helix DNA-binding (5);	0.111008	0.64402	D	0.000013	D	0.97673	0.9237	M	0.88704	2.975	0.58432	D	0.999998	B	0.25206	0.12	B	0.22386	0.039	D	0.96368	0.9271	10	0.87932	D	0	-5.7139	12.2497	0.54591	0.0:0.9146:0.0:0.0854	.	357	P19532	TFE3_HUMAN	H	357	ENSP00000314129:R357H	ENSP00000314129:R357H	R	-	2	0	TFE3	48777990	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.721000	0.84768	1.111000	0.41721	0.462000	0.41574	CGC		0.532	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		22	47	0	0	0	0	22	47				
ZXDB	158586	broad.mit.edu	37	X	57618953	57618953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:57618953G>A	ENST00000374888.1	+	1	685	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						cccgatctccgcccccggccc	0.751																																						uc004dvd.2		NA																	0					0						c.(472-474)GCC>ACC		zinc finger, X-linked, duplicated B							4.0	6.0	5.0					X																	57618953		1877	3672	5549	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57618953G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.472G>A	X.37:g.57618953G>A	ENSP00000364023:p.Ala158Thr						p.A158T	NM_007157	NP_009088	P98169	ZXDB_HUMAN			1	685	+			158					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.472G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	5.428	0.264172	0.10294	.	.	ENSG00000198455	ENST00000374888	T	0.52057	0.68	2.29	2.29	0.28610	.	1.229440	0.06195	N	0.682182	T	0.35624	0.0938	L	0.43152	1.355	0.09310	N	1	B	0.29671	0.254	B	0.13407	0.009	T	0.27226	-1.0080	10	0.40728	T	0.16	.	4.396	0.11363	0.198:0.0:0.802:0.0	.	158	P98169	ZXDB_HUMAN	T	158	ENSP00000364023:A158T	ENSP00000364023:A158T	A	+	1	0	ZXDB	57635678	0.001000	0.12720	0.021000	0.16686	0.039000	0.13416	0.613000	0.24299	1.409000	0.46915	0.499000	0.49734	GCC		0.751	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		6	15	0	0	0	0	6	15				
EDA	1896	broad.mit.edu	37	X	69253319	69253320	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:69253319_69253320CG>AA	ENST00000374552.4	+	7	1107_1108	c.865_866CG>AA	c.(865-867)CGc>AAc	p.R289N	EDA_ENST00000524573.1_Missense_Mutation_p.R286N|EDA_ENST00000374553.2_Missense_Mutation_p.R289N	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	289			R -> C (in STHAGX1). {ECO:0000269|PubMed:19278982}.|R -> L (in STHAGX1). {ECO:0000269|PubMed:24487376}.		cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCTACATCCCCGCAGCGGGGAG	0.5											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dxs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(865-867)CGC>AAC		ectodysplasin A isoform EDA-A1																																				SO:0001583	missense	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69253319_69253320CG>AA	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	Exception_encountered	X.37:g.69253319_69253320delinsAA	ENSP00000363680:p.Arg289Asn		OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	EDA_uc004dxr.2_Missense_Mutation_p.R289N|EDA_uc011mpj.1_Missense_Mutation_p.R286N	p.R289N	NM_001399	NP_001390	Q92838	EDA_HUMAN			7	1107_1108	+			289			Extracellular (Potential).		A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	DNP	ENST00000374552.4	37	c.865_866CG>AA	CCDS14394.1																																																																																				0.500	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		5	149	0	0	0	0	5	149				
AWAT1	158833	broad.mit.edu	37	X	69458111	69458111	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:69458111C>A	ENST00000374521.3	+	5	551	c.510C>A	c.(508-510)ggC>ggA	p.G170G		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	170					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TGAGCCATGGCACTGGCAACC	0.542																																						uc004dxy.2		NA																	0				ovary(3)	3						c.(508-510)GGC>GGA		wax synthase 1							117.0	90.0	100.0					X																	69458111		2203	4300	6503	SO:0001819	synonymous_variant	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69458111C>A	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.510C>A	X.37:g.69458111C>A							p.G170G	NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN			5	551	+			170					Q5JT21|Q6IEE4	Silent	SNP	ENST00000374521.3	37	c.510C>A	CCDS35321.1																																																																																				0.542	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		30	76	1	0	2.85e-18	7.95e-18	30	76				
RGAG4	340526	broad.mit.edu	37	X	71351044	71351044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:71351044C>T	ENST00000545866.1	-	1	714	c.347G>A	c.(346-348)gGg>gAg	p.G116E	NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000535692.1_5'Flank|RGAG4_ENST00000609883.1_Missense_Mutation_p.G116E|NHSL2_ENST00000373677.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	116										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GTCAGCGGGCCCGTCGGGGGT	0.697																																						uc010nlh.1		NA																	0				ovary(2)|skin(1)	3						c.(346-348)GGG>GAG		retrotransposon gag domain containing 4							8.0	10.0	9.0					X																	71351044		1850	4013	5863	SO:0001583	missense	340526							g.chrX:71351044C>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.347G>A	X.37:g.71351044C>T	ENSP00000441366:p.Gly116Glu					NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	p.G116E	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	708	-	Renal(35;0.156)		116					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.347G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923747	0.34002	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.15834	2.39;2.39	4.32	2.52	0.30459	.	.	.	.	.	T	0.18923	0.0454	N	0.24115	0.695	0.09310	N	1	P	0.50443	0.935	P	0.54499	0.754	T	0.12811	-1.0533	8	.	.	.	-9.8822	9.8766	0.41207	0.0:0.5677:0.4323:0.0	.	116	Q5HYW3	RGAG4_HUMAN	E	116	ENSP00000441366:G116E;ENSP00000418667:G116E	.	G	-	2	0	RGAG4	71267769	0.000000	0.05858	0.004000	0.12327	0.512000	0.34134	-0.151000	0.10175	0.548000	0.28955	0.600000	0.82982	GGG		0.697	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		6	12	0	0	0	0	6	12				
ATRX	546	broad.mit.edu	37	X	76937979	76937979	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:76937979C>A	ENST00000373344.5	-	9	2983	c.2769G>T	c.(2767-2769)aaG>aaT	p.K923N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K885N	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	923					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCCCAGAAAGCTTATCGACAC	0.398			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(2767-2769)AAG>AAT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						143.0	139.0	140.0					X																	76937979		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937979C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2769G>T	X.37:g.76937979C>A	ENSP00000362441:p.Lys923Asn					ATRX_uc004ecq.3_Missense_Mutation_p.K885N|ATRX_uc004eco.3_Missense_Mutation_p.K708N|ATRX_uc004ecr.2_Missense_Mutation_p.K855N|ATRX_uc010nlx.1_Missense_Mutation_p.K894N|ATRX_uc010nly.1_Missense_Mutation_p.K868N	p.K923N	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	3001	-			923					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2769G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	4.376	0.069297	0.08436	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93247	-3.19;-3.14	5.47	-2.32	0.06745	.	0.215406	0.39083	N	0.001466	D	0.94175	0.8131	L	0.53249	1.67	0.09310	N	1	D;P;D;D	0.76494	0.999;0.902;0.976;0.999	D;P;P;D	0.78314	0.991;0.605;0.677;0.991	D	0.89503	0.3765	10	0.44086	T	0.13	-13.5919	13.0322	0.58848	0.0:0.4047:0.0:0.5953	.	923;855;885;923	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	N	923;885;850	ENSP00000362441:K923N;ENSP00000378967:K885N	ENSP00000362441:K923N	K	-	3	2	ATRX	76824635	0.008000	0.16893	0.001000	0.08648	0.037000	0.13140	0.041000	0.13927	-0.511000	0.06514	-0.312000	0.09012	AAG		0.398	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		41	230	1	0	4.33e-17	1.2e-16	41	230				
ATG4A	115201	broad.mit.edu	37	X	107377334	107377334	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:107377334A>C	ENST00000372232.3	+	5	499	c.340A>C	c.(340-342)Atc>Ctc	p.I114L	ATG4A_ENST00000372254.3_Missense_Mutation_p.I90L|ATG4A_ENST00000545696.1_Missense_Mutation_p.I37L|ATG4A_ENST00000345734.3_Missense_Mutation_p.I114L	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	114					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ATACCAACGCATCCTACAGTG	0.348																																						uc004enr.2		NA																	0				pancreas(1)	1						c.(340-342)ATC>CTC		autophagy-related cysteine endopeptidase 2							141.0	124.0	130.0					X																	107377334		2203	4300	6503	SO:0001583	missense	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107377334A>C	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.340A>C	X.37:g.107377334A>C	ENSP00000361306:p.Ile114Leu					ATG4A_uc004ent.2_Missense_Mutation_p.I114L|ATG4A_uc004ens.2_Missense_Mutation_p.I30L|ATG4A_uc011msl.1_Missense_Mutation_p.I30L|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.I30L	p.I114L	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN			5	463	+			114					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	c.340A>C	CCDS14538.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.869016	0.91587	.	.	ENSG00000101844	ENST00000372232;ENST00000345734;ENST00000372254;ENST00000457035;ENST00000545696	T;T;T;T	0.55930	0.65;0.78;0.72;0.49	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	M	0.62723	1.935	0.80722	D	1	P;P;P	0.51933	0.949;0.627;0.476	P;B;B	0.57204	0.815;0.399;0.405	T	0.69639	-0.5091	10	0.87932	D	0	-9.5206	15.3802	0.74648	1.0:0.0:0.0:0.0	.	37;114;114	F5H3G3;Q8WYN0-2;Q8WYN0	.;.;ATG4A_HUMAN	L	114;114;90;37;37	ENSP00000361306:I114L;ENSP00000298131:I114L;ENSP00000361328:I90L;ENSP00000438936:I37L	ENSP00000341833:I114L	I	+	1	0	ATG4A	107263990	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	6.451000	0.73481	2.016000	0.59253	0.486000	0.48141	ATC		0.348	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		14	21	0	0	0	0	14	21				
GUCY2F	2986	broad.mit.edu	37	X	108708626	108708626	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:108708626C>G	ENST00000218006.2	-	3	1068	c.777G>C	c.(775-777)caG>caC	p.Q259H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	259					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGAGATGCATCTGAGTCTCTC	0.413																																						uc004eod.3		NA																	0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(775-777)CAG>CAC		guanylate cyclase 2F precursor							155.0	128.0	137.0					X																	108708626		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108708626C>G	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.777G>C	X.37:g.108708626C>G	ENSP00000218006:p.Gln259His					GUCY2F_uc011msq.1_RNA	p.Q259H	NM_001522	NP_001513	P51841	GUC2F_HUMAN			3	1053	-			259			Extracellular (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.777G>C	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542444	0.45280	.	.	ENSG00000101890	ENST00000218006	T	0.74002	-0.8	4.11	1.33	0.21861	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.81592	0.4855	M	0.79805	2.47	0.45415	D	0.998393	D	0.64830	0.994	D	0.64687	0.928	T	0.77504	-0.2563	10	0.46703	T	0.11	.	6.3606	0.21427	0.0:0.55:0.0:0.45	.	259	P51841	GUC2F_HUMAN	H	259	ENSP00000218006:Q259H	ENSP00000218006:Q259H	Q	-	3	2	GUCY2F	108595282	0.996000	0.38824	0.488000	0.27440	0.965000	0.64279	1.041000	0.30291	0.138000	0.18790	0.600000	0.82982	CAG		0.413	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		44	127	0	0	0	0	44	127				
WDR44	54521	broad.mit.edu	37	X	117526618	117526618	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:117526618G>C	ENST00000254029.3	+	4	605	c.210G>C	c.(208-210)gaG>gaC	p.E70D	WDR44_ENST00000371825.3_Missense_Mutation_p.E70D|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.E45D	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	70	Binding activity.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTATTGAGGAGAGTCAGAAAG	0.343																																						uc004eqn.2		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(208-210)GAG>GAC		WD repeat domain 44 protein							66.0	62.0	63.0					X																	117526618		2202	4297	6499	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117526618G>C	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.210G>C	X.37:g.117526618G>C	ENSP00000254029:p.Glu70Asp					WDR44_uc004eqo.2_Missense_Mutation_p.E70D|WDR44_uc011mtr.1_Missense_Mutation_p.E45D|WDR44_uc010nqi.2_5'UTR	p.E70D	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			4	635	+			70			Binding activity.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.210G>C	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736076	0.69189	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.75704	-0.96;-0.92;-0.78	5.84	1.46	0.22682	.	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	L	0.34521	1.04	0.37164	D	0.902718	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.79784	0.993;0.993;0.985	T	0.75269	-0.3377	10	0.52906	T	0.07	-15.5056	8.741	0.34558	0.6959:0.0:0.3041:0.0	.	45;70;70	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	D	45;70;70	ENSP00000360887:E45D;ENSP00000254029:E70D;ENSP00000360890:E70D	ENSP00000254029:E70D	E	+	3	2	WDR44	117410646	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.580000	0.46068	0.140000	0.18849	0.600000	0.82982	GAG		0.343	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		19	65	0	0	0	0	19	65				
THOC2	57187	broad.mit.edu	37	X	122767863	122767863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:122767863C>T	ENST00000245838.8	-	20	2108	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	THOC2_ENST00000491737.1_Missense_Mutation_p.E578K|THOC2_ENST00000355725.4_Missense_Mutation_p.E693K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	693					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTCATTTCCTCTGTAATTTCT	0.333																																						uc004etu.2		NA																	0				ovary(3)	3						c.(2077-2079)GAG>AAG		THO complex 2							139.0	126.0	130.0					X																	122767863		1842	4074	5916	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122767863C>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2077G>A	X.37:g.122767863C>T	ENSP00000245838:p.Glu693Lys					THOC2_uc011muh.1_Missense_Mutation_p.E618K	p.E693K	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			20	2109	-			693					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.2077G>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629529	0.67015	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000002	T	0.62466	0.2430	M	0.80982	2.52	0.58432	D	0.999998	B;B	0.30021	0.265;0.126	B;B	0.25140	0.032;0.058	T	0.62973	-0.6740	9	0.11485	T	0.65	-15.2395	17.7533	0.88441	0.0:1.0:0.0:0.0	.	618;693	B4DKZ6;Q8NI27	.;THOC2_HUMAN	K	693;693;578;618	.	ENSP00000245838:E693K	E	-	1	0	THOC2	122595544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.984000	0.70548	2.210000	0.71456	0.544000	0.68410	GAG		0.333	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			18	87	0	0	0	0	18	87				
L1CAM	3897	broad.mit.edu	37	X	153128177	153128177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:153128177C>T	ENST00000370060.1	-	29	3904	c.3715G>A	c.(3715-3717)Ggg>Agg	p.G1239R	L1CAM_ENST00000370055.1_Missense_Mutation_p.G1230R|L1CAM_ENST00000361981.3_Missense_Mutation_p.G1230R|L1CAM_ENST00000538883.1_Missense_Mutation_p.G1237R|L1CAM_ENST00000543994.1_Missense_Mutation_p.G1241R|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1235R|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1239R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1239			G -> E. {ECO:0000269|PubMed:10797421}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTGCCCCCTGCCGCCTCC	0.602																																						uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.(3715-3717)GGG>AGG		L1 cell adhesion molecule isoform 1 precursor							90.0	72.0	78.0					X																	153128177		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153128177C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3715G>A	X.37:g.153128177C>T	ENSP00000359077:p.Gly1239Arg					L1CAM_uc004fjc.2_Missense_Mutation_p.G1235R|L1CAM_uc010nuo.2_Missense_Mutation_p.G1230R	p.G1239R	NM_000425	NP_000416	P32004	L1CAM_HUMAN			28	3823	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1239		G -> E.	Cytoplasmic (Potential).		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.3715G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982579	0.53827	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	T;T;T;T;T;T;D;T	0.82526	0.26;0.27;0.26;0.27;0.29;0.29;-1.62;0.26	4.7	4.7	0.59300	.	0.000000	0.52532	D	0.000072	D	0.84642	0.5517	L	0.31926	0.97	0.43527	D	0.995807	P;P;D	0.53619	0.882;0.767;0.961	P;B;P	0.60345	0.8;0.43;0.873	D	0.85034	0.0919	10	0.44086	T	0.13	.	15.4779	0.75501	0.0:1.0:0.0:0.0	.	1230;1235;1239	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	R	1239;1241;1239;1237;1230;1230;135;1235	ENSP00000359077:G1239R;ENSP00000438430:G1241R;ENSP00000359074:G1239R;ENSP00000439645:G1237R;ENSP00000354712:G1230R;ENSP00000359072:G1230R;ENSP00000359075:G135R;ENSP00000355380:G1235R	ENSP00000355380:G1235R	G	-	1	0	L1CAM	152781371	0.011000	0.17503	0.165000	0.22776	0.809000	0.45718	1.949000	0.40313	2.162000	0.67917	0.529000	0.55759	GGG		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		22	67	0	0	0	0	22	67				
CMC4	100272147	broad.mit.edu	37	X	154292277	154292277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:154292277G>A	ENST00000369484.3	-	2	700	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	CMC4_ENST00000369479.1_Nonsense_Mutation_p.Q8*|MTCP1_ENST00000482244.1_5'Flank	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4	8					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)											GCTTGCTTCTGGCACGGATCC	0.328																																						uc004fmy.2		NA																	0				lung(1)	1						c.(22-24)CAG>TAG		mature T-cell proliferation 1 neighbor							88.0	98.0	95.0					X																	154292277		2203	4300	6503	SO:0001587	stop_gained	100272147				cell proliferation	mitochondrion		g.chrX:154292277G>A		CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.22C>T	X.37:g.154292277G>A	ENSP00000358496:p.Gln8*						p.Q8*	NM_001018024	NP_001018024	P56277	MTCNB_HUMAN			2	611	-			8					Q5HYP9	Nonsense_Mutation	SNP	ENST00000369484.3	37	c.22C>T	CCDS14764.1	.	.	.	.	.	.	.	.	.	.	G	41	8.883186	0.98990	.	.	ENSG00000182712	ENST00000369484;ENST00000369479	.	.	.	5.31	5.31	0.75309	.	0.000000	0.39083	U	0.001480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-11.5656	14.9283	0.70896	0.0:0.0:1.0:0.0	.	.	.	.	X	8	.	ENSP00000358491:Q8X	Q	-	1	0	MTCP1NB	153945471	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.419000	0.80179	2.360000	0.80028	0.594000	0.82650	CAG		0.328	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000037822.2	NM_001018024.2		32	151	0	0	0	0	32	151				
EPHA2	1969	broad.mit.edu	37	1	16475160	16475161	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:16475160_16475161insA	ENST00000358432.5	-	3	689_690	c.535_536insT	c.(535-537)tacfs	p.Y179fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	179	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GAAGGCCAGGTAGAAGCCTTTG	0.644																																						uc001aya.1		NA																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(535-537)TACfs		ephrin receptor EphA2 precursor	Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475160_16475161insA	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.536dupT	1.37:g.16475161_16475161dupA	ENSP00000351209:p.Tyr179fs					EPHA2_uc010oca.1_Frame_Shift_Ins_p.Y179fs	p.Y179fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	672_673	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	179			Extracellular (Potential).		B5A968|Q8N3Z2	Frame_Shift_Ins	INS	ENST00000358432.5	37	c.535_536insT	CCDS169.1																																																																																				0.644	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		20	66	NA	NA	NA	NA	20	66	---	---	---	---
KDF1	126695	broad.mit.edu	37	1	27278782	27278783	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	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			22	63	NA	NA	NA	NA	22	63	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46123891	46123892	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:46123891_46123892delAG	ENST00000334344.6	+	2	329_330	c.157_158delAG	c.(157-159)agafs	p.R53fs	ARID2_ENST00000422737.1_5'UTR|LINC00938_ENST00000609803.1_lincRNA	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	53	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCTACACCAGAGTCACTACT	0.53			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(157-159)AGAfs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123891_46123892delAG		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.157_158delAG	12.37:g.46123893_46123894delAG	ENSP00000335044:p.Arg53fs					ARID2_uc001ror.2_Frame_Shift_Del_p.R53fs|LOC400027_uc001roq.2_5'Flank	p.R53fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	157_158	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	53			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.157_158delAG	CCDS31783.1																																																																																				0.530	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		10	30	NA	NA	NA	NA	10	30	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49420671	49420672	+	Frame_Shift_Ins	INS	-	-	GGTA			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:49420671_49420672insGGTA	ENST00000301067.7	-	48	15076_15077	c.15077_15078insTACC	c.(15076-15078)ccgfs	p.-5026fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCATGTCTCGCGGTACCTTGTC	0.624																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15076-15078)CCGfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420671_49420672insGGTA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15074_15077dupTACC	12.37:g.49420672_49420675dupGGTA	ENSP00000301067:p.Pro5026fs	HNSCC(34;0.089)					p.P5026fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15077_15078	-			5026					O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.15077_15078insTACC	CCDS44873.1																																																																																				0.624	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			17	88	NA	NA	NA	NA	17	88	---	---	---	---
ARGLU1	55082	broad.mit.edu	37	13	107219952	107219953	+	In_Frame_Ins	INS	-	-	CTC			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:107219952_107219953insCTC	ENST00000400198.3	-	1	559_560	c.315_316insGAG	c.(313-318)gagaag>gagGAGaag	p.105_106insE		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCGCTTTCTTCTCCTCCTCCT	0.713																																						uc001vqk.3		NA																	0					0						c.(313-318)insGAG		arginine and glutamate rich 1																																				SO:0001652	inframe_insertion	55082							g.chr13:107219952_107219953insCTC	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.313_315dupGAG	13.37:g.107219959_107219961dupCTC	ENSP00000383059:p.Glu105_Glu105dup						p.105_106insE	NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN			1	562_563	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		105_106			Glu-rich.		B4E0Y3|Q5T257|Q6IQ34	In_Frame_Ins	INS	ENST00000400198.3	37	c.315_316insGAG	CCDS41906.1																																																																																				0.713	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011		20	87	NA	NA	NA	NA	20	87	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578267	7578268	+	Frame_Shift_Ins	INS	-	-	AG	rs370216745		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:7578267_7578268insAG	ENST00000269305.4	-	6	770_771	c.581_582insCT	c.(580-582)cttfs	p.L194fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.L194fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L194fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Ins_p.L194fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L194fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L194fs	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.I195fs*52(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.I102fs*52(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.H193_I195>AP(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)	CCACTCGGATAAGATGCTGAGG	0.554		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		120	Substitution - Missense(75)|Deletion - Frameshift(13)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Substitution - coding silent(4)|Insertion - Frameshift(2)|Complex - frameshift(1)	p.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*53(2)|p.L194fs*15(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.I195fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.L194fs*52(1)|p.A189fs*53(1)|p.L194I(1)|p.I195fs*52(1)|p.H193_I195>AP(1)	breast(20)|lung(15)|ovary(14)|large_intestine(13)|biliary_tract(11)|haematopoietic_and_lymphoid_tissue(11)|urinary_tract(6)|skin(6)|oesophagus(6)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(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						c.(580-582)CTTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				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.chr17:7578267_7578268insAG	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.580_581dupCT	17.37:g.7578268_7578269dupAG	ENSP00000269305:p.Leu194fs	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_Frame_Shift_Ins_p.L194fs|TP53_uc002gih.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cng.1_Frame_Shift_Ins_p.L62fs|TP53_uc002gii.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.L194fs|TP53_uc010cni.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gij.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.L101fs|TP53_uc002gio.2_Frame_Shift_Ins_p.L62fs|TP53_uc010vug.1_Frame_Shift_Ins_p.L155fs	p.L194fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	775_776	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	194		L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.581_582insCT	CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	47	NA	NA	NA	NA	20	47	---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19744918	19744929	+	In_Frame_Del	DEL	CGGCGGCCGCAG	CGGCGGCCGCAG	-	rs371889238|rs146830752|rs144433615	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:19744918_19744929delCGGCGGCCGCAG	ENST00000203556.4	-	19	2292_2303	c.2155_2166delCTGCGGCCGCCG	c.(2155-2166)ctgcggccgccgdel	p.LRPP719del	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_In_Frame_Del_p.LRPP693del|GMIP_ENST00000445806.2_In_Frame_Del_p.LRPP690del	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	719	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCGGGCCGTCCGGCGGCCGCAGCAGTGTCGGC	0.613																																						uc002nnd.2		NA																	0				ovary(1)	1						c.(2155-2166)CTGCGGCCGCCGdel		GEM interacting protein																																				SO:0001651	inframe_deletion	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19744918_19744929delCGGCGGCCGCAG	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2155_2166delCTGCGGCCGCCG	19.37:g.19744918_19744929delCGGCGGCCGCAG	ENSP00000203556:p.Leu719_Pro722del					GMIP_uc010xrb.1_In_Frame_Del_p.LRPP693del|GMIP_uc010xrc.1_In_Frame_Del_p.LRPP690del	p.LRPP719del	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			19	2272_2283	-			719_722			Rho-GAP.		A0AVN9|B7ZLZ0	In_Frame_Del	DEL	ENST00000203556.4	37	c.2155_2166delCTGCGGCCGCCG	CCDS12408.1																																																																																				0.613	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		9	68	NA	NA	NA	NA	9	68	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36218454	36218474	+	In_Frame_Del	DEL	GGGCCTGCGCCAGGTGCTCCA	GGGCCTGCGCCAGGTGCTCCA	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:36218454_36218474delGGGCCTGCGCCAGGTGCTCCA	ENST00000222270.7	+	16	4233_4253	c.4233_4253delGGGCCTGCGCCAGGTGCTCCA	c.(4231-4254)gggggcctgcgccaggtgctccag>ggg	p.GLRQVLQ1412del	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_In_Frame_Del_p.GLRQVLQ1412del	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1412					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCTCCAGGGGGGCCTGCGCCAGGTGCTCCAGGGCCTGCTG	0.724																																						uc010eei.2		NA																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(4231-4254)GGGGGCCTGCGCCAGGTGCTCCAG>GGG		myeloid/lymphoid or mixed-lineage leukemia 4																																				SO:0001651	inframe_deletion	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36218454_36218474delGGGCCTGCGCCAGGTGCTCCA	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4233_4253delGGGCCTGCGCCAGGTGCTCCA	19.37:g.36218454_36218474delGGGCCTGCGCCAGGTGCTCCA	ENSP00000222270:p.Gly1412_Gln1418del						p.GLRQVLQ1412del	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	4233_4253	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1412_1418					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	In_Frame_Del	DEL	ENST00000222270.7	37	c.4233_4253delGGGCCTGCGCCAGGTGCTCCA	CCDS46055.1																																																																																				0.724	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		17	86	NA	NA	NA	NA	17	86	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202149546	202149551	+	In_Frame_Del	DEL	GACCAC	GACCAC	-	rs139337151		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:202149546_202149551delGACCAC	ENST00000432109.2	+	9	999_1004	c.810_815delGACCAC	c.(808-816)ttgaccacg>ttg	p.TT271del	CASP8_ENST00000264275.5_In_Frame_Del_p.TT288del|CASP8_ENST00000358485.4_In_Frame_Del_p.TT330del|CASP8_ENST00000323492.7_In_Frame_Del_p.TT256del|CASP8_ENST00000264274.9_In_Frame_Del_p.TT187del|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	271					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAGGGGCTTTGACCACGACCTTTGAA	0.422										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(808-816)TTGACCACG>TTG		caspase 8 isoform B precursor																																				SO:0001651	inframe_deletion	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202149546_202149551delGACCAC	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.810_815delGACCAC	2.37:g.202149546_202149551delGACCAC	ENSP00000412523:p.Thr271_Thr272del	HNSCC(4;0.00038)				CASP8_uc002uxp.1_In_Frame_Del_p.TT288del|CASP8_uc002uxq.1_In_Frame_Del_p.TT256del|CASP8_uc002uxt.1_In_Frame_Del_p.TT330del|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_In_Frame_Del_p.TT256del|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_In_Frame_Del_p.TT187del	p.TT271del	NM_033355	NP_203519	Q14790	CASP8_HUMAN			9	1019_1024	+			271_272					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	In_Frame_Del	DEL	ENST00000432109.2	37	c.810_815delGACCAC	CCDS2342.1																																																																																				0.422	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		16	34	NA	NA	NA	NA	16	34	---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35075135	35075135	+	Frame_Shift_Del	DEL	G	G	-	rs112014857	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:35075135delG	ENST00000373907.2	+	6	1642	c.1443delG	c.(1441-1443)gcgfs	p.A482fs	DLGAP4_ENST00000401952.2_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000339266.5_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000373913.3_Frame_Shift_Del_p.A482fs			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	482					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGTATGAGGCGGCCTGCGAGT	0.632																																						uc002xff.2		NA																	0				skin(2)|ovary(1)	3						c.(1441-1443)GCGfs		disks large-associated protein 4 isoform a							46.0	34.0	38.0					20																	35075135		2202	4299	6501	SO:0001589	frameshift_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35075135delG	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1443delG	20.37:g.35075135delG	ENSP00000363014:p.Ala482fs					DLGAP4_uc010zvp.1_Frame_Shift_Del_p.A481fs	p.A481fs	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			7	1878	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	481					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Frame_Shift_Del	DEL	ENST00000373907.2	37	c.1443delG																																																																																					0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		11	26	NA	NA	NA	NA	11	26	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187534466	187534467	+	Frame_Shift_Ins	INS	-	-	G	rs375998390		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:187534466_187534467insG	ENST00000441802.2	-	13	9468_9469	c.9259_9260insC	c.(9259-9261)cgtfs	p.R3087fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3087	Cadherin 28. {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)			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						TTGCTCCTCACGATCAAGGGGG	0.446										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(9259-9261)CGTfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	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.chr4:187534466_187534467insG	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.9260dupC	4.37:g.187534467_187534467dupG	ENSP00000406229:p.Arg3087fs	HNSCC(5;0.00058)					p.R3087fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			13	9447_9448	-			3087			Extracellular (Potential).|Cadherin 28.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.9259_9260insC	CCDS47177.1																																																																																				0.446	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		20	74	NA	NA	NA	NA	20	74	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187539457	187539469	+	Frame_Shift_Del	DEL	CTTCAGTCTCCCG	CTTCAGTCTCCCG	-	rs374236368		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:187539457_187539469delCTTCAGTCTCCCG	ENST00000441802.2	-	10	8480_8492	c.8271_8283delCGGGAGACTGAAG	c.(8269-8283)agcgggagactgaagfs	p.SGRLK2757fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2757	Cadherin 25. {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.G2758W(1)|p.G2761R(1)|p.G2761W(1)|p.G2758R(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						TCTTCTCCAACTTCAGTCTCCCGCTCTGTCTGT	0.465										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	4	Substitution - Missense(4)		lung(2)|kidney(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8269-8283)AGCGGGAGACTGAAGfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	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.chr4:187539457_187539469delCTTCAGTCTCCCG	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.8271_8283delCGGGAGACTGAAG	4.37:g.187539457_187539469delCTTCAGTCTCCCG	ENSP00000406229:p.Ser2757fs	HNSCC(5;0.00058)					p.S2757fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8459_8471	-			2757_2761			Extracellular (Potential).|Cadherin 25.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.8271_8283delCGGGAGACTGAAG	CCDS47177.1																																																																																				0.465	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		49	166	NA	NA	NA	NA	49	166	---	---	---	---
C6orf223	221416	broad.mit.edu	37	6	43970503	43970504	+	In_Frame_Ins	INS	-	-	GCG	rs571541469		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:43970503_43970504insGCG	ENST00000336600.5	+	4	389_390	c.369_370insGCG	c.(370-372)gcg>GCGgcg	p.124_124A>AA	RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000442114.2_In_Frame_Ins_p.104_104A>AA|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	124	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.777																																						uc003own.2		NA																	0					0						c.(367-372)insGCG		hypothetical protein LOC221416																																				SO:0001652	inframe_insertion	221416							g.chr6:43970503_43970504insGCG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.394_396dupGCG	6.37:g.43970510_43970512dupGCG	ENSP00000426159:p.Ala132dup					uc003owm.1_Intron|C6orf223_uc003owo.2_In_Frame_Ins_p.112_113insA	p.132_133insA	NM_153246	NP_694978	Q8N319	CF223_HUMAN	all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)		4	387_388	+	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		132_133			Ala-rich.		E9PB59|Q8N575	In_Frame_Ins	INS	ENST00000336600.5	37	c.369_370insGCG	CCDS34459.1																																																																																				0.777	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		8	10	NA	NA	NA	NA	8	10	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76920172	76920173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:76920172_76920173insT	ENST00000373344.5	-	11	4118_4119	c.3904_3905insA	c.(3904-3906)agafs	p.R1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R1264fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTTCCAGTTCTTTTTTTCCCT	0.376			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)		central_nervous_system(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(3904-3906)AGAfs		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920172_76920173insT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3905dupA	X.37:g.76920179_76920179dupT	ENSP00000362441:p.Arg1302fs					ATRX_uc004ecq.3_Frame_Shift_Ins_p.R1264fs|ATRX_uc004eco.3_Frame_Shift_Ins_p.R1087fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.R1234fs	p.R1302fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			11	4136_4137	-			1302					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.3904_3905insA	CCDS14434.1																																																																																				0.376	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	118	NA	NA	NA	NA	8	118	---	---	---	---
