#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
ACAP3	116983	broad.mit.edu	37	1	1233212	1233212	+	Missense_Mutation	SNP	C	C	G	rs146361230		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:1233212C>G	ENST00000354700.5	-	14	1320	c.1118G>C	c.(1117-1119)tGc>tCc	p.C373S	ACAP3_ENST00000353662.3_Missense_Mutation_p.C331S|ACAP3_ENST00000379037.2_5'UTR	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	373					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CTCGCTATAGCAACTGTCAGG	0.682																																						uc001aeb.2		NaN																	0					0						c.(1117-1119)TGC>TCC		ArfGAP with coiled-coil, ankyrin repeat and PH			SER/CYS	1,4395	2.1+/-5.4	0,1,2197	55.0	56.0	55.0		1118	3.8	1.0	1	dbSNP_134	55	0,8592		0,0,4296	no	missense	ACAP3	NM_030649.2	112	0,1,6493	GG,GC,CC		0.0,0.0227,0.0077	benign	373/835	1233212	1,12987	2198	4296	6494	SO:0001583	missense	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1233212C>G	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1118G>C	1.37:g.1233212C>G	ENSP00000346733:p.Cys373Ser					ACAP3_uc001ady.2_Missense_Mutation_p.C103S|ACAP3_uc001aea.2_Missense_Mutation_p.C331S	p.C373S	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			14	1192	-			373					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	c.1118G>C	CCDS19.2	.	.	.	.	.	.	.	.	.	.	c	5.579	0.291719	0.10567	2.27E-4	0.0	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.26223	1.75;1.86	3.85	3.85	0.44370	.	0.363764	0.30185	N	0.010202	T	0.06735	0.0172	N	0.01048	-1.04	0.33655	D	0.608987	B;B	0.29301	0.001;0.241	B;B	0.24155	0.001;0.051	T	0.22521	-1.0214	10	0.13853	T	0.58	.	7.6307	0.28238	0.0:0.8024:0.0:0.1976	.	373;331	Q96P50;Q96P50-1	ACAP3_HUMAN;.	S	373;331	ENSP00000346733:C373S;ENSP00000321139:C331S	ENSP00000321139:C331S	C	-	2	0	ACAP3	1223075	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	0.877000	0.28106	2.436000	0.82500	0.450000	0.29827	TGC		0.682	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2		NM_030649		34	18	0	0	0	0.013726	0	34	18		
SSU72	29101	broad.mit.edu	37	1	1479272	1479272	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:1479272G>A	ENST00000291386.3	-	4	771	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F		NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	154					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCACAGATGAGAAACGCCCCC	0.607																																						uc001agd.2		NaN																	0					0						c.(460-462)CTC>TTC		Ssu72 RNA polymerase II CTD phosphatase homolog							94.0	99.0	97.0					1																	1479272		2203	4300	6503	SO:0001583	missense	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1479272G>A	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.460C>T	1.37:g.1479272G>A	ENSP00000291386:p.Leu154Phe					SSU72_uc009vkg.1_Missense_Mutation_p.L154F	p.L154F	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	4	785	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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)	154					Q9BZS6|Q9H933	Missense_Mutation	SNP	ENST00000291386.3	37	c.460C>T	CCDS32.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881329	0.51801	.	.	ENSG00000160075	ENST00000291386;ENST00000378726	T	0.44881	0.91	4.75	3.82	0.43975	.	0.000000	0.64402	D	0.000001	T	0.40322	0.1112	M	0.69358	2.11	0.80722	D	1	B;B	0.34103	0.437;0.077	B;B	0.38500	0.275;0.087	T	0.14615	-1.0466	10	0.23302	T	0.38	-26.0554	7.5031	0.27530	0.09:0.17:0.74:0.0	.	154;154	B4DMK6;Q9NP77	.;SSU72_HUMAN	F	154;71	ENSP00000291386:L154F	ENSP00000291386:L154F	L	-	1	0	SSU72	1469135	1.000000	0.71417	0.943000	0.38184	0.251000	0.25915	7.875000	0.87205	0.983000	0.38602	-0.175000	0.13238	CTC		0.607	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1		NM_014188		36	101	0	0	0	0.003755	0	36	101		
MMEL1	79258	broad.mit.edu	37	1	2529730	2529730	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:2529730C>T	ENST00000378412.3	-	13	1349	c.1188G>A	c.(1186-1188)caG>caA	p.Q396Q	MMEL1_ENST00000502556.1_Silent_p.Q239Q|MMEL1_ENST00000288709.6_Silent_p.Q387Q			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	396						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCAGGTAGTTCTGTATGGTCC	0.582																																						uc001ajy.2		NaN																	0					0						c.(1186-1188)CAG>CAA		membrane metallo-endopeptidase-like 1							87.0	86.0	86.0					1																	2529730		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2529730C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1188G>A	1.37:g.2529730C>T						MMEL1_uc009vlg.1_RNA	p.Q396Q	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	13	1402	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	396			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.1188G>A	CCDS30569.2																																																																																				0.582	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2		NM_033467		20	56	0	0	0	0.008871	0	20	56		
MMEL1	79258	broad.mit.edu	37	1	2530149	2530149	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:2530149G>C	ENST00000378412.3	-	12	1283	c.1122C>G	c.(1120-1122)gtC>gtG	p.V374V	MMEL1_ENST00000502556.1_Silent_p.V217V|MMEL1_ENST00000288709.6_Silent_p.V365V			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	374						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGATGCCATAGACCACCACTT	0.517																																						uc001ajy.2		NaN																	0					0						c.(1120-1122)GTC>GTG		membrane metallo-endopeptidase-like 1							145.0	134.0	138.0					1																	2530149		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2530149G>C	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1122C>G	1.37:g.2530149G>C						MMEL1_uc009vlg.1_RNA	p.V374V	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	12	1336	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	374			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.1122C>G	CCDS30569.2																																																																																				0.517	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2		NM_033467		21	72	0	0	0	0.012319	0	21	72		
PINK1	65018	broad.mit.edu	37	1	20972086	20972086	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:20972086G>A	ENST00000321556.4	+	5	1087	c.993G>A	c.(991-993)gtG>gtA	p.V331V	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	331	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTTTGTGTGAACACACCCA	0.577																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	uc001bdm.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(991-993)GTG>GTA		PTEN induced putative kinase 1 precursor							46.0	43.0	44.0					1																	20972086		2203	4300	6503	SO:0001819	synonymous_variant	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20972086G>A	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.993G>A	1.37:g.20972086G>A						PINK1_uc001bdn.2_Silent_p.V24V	p.V331V	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	1087	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	331			Protein kinase.|Cytoplasmic (Potential).		Q8N6T9|Q8NBU3|Q96DE4	Silent	SNP	ENST00000321556.4	37	c.993G>A	CCDS211.1																																																																																				0.577	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1		NM_032409		24	54	0	0	0	0.003954	0	24	54		
ARID1A	8289	broad.mit.edu	37	1	27106421	27106421	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:27106421T>G	ENST00000324856.7	+	20	6403	c.6032T>G	c.(6031-6033)cTg>cGg	p.L2011R	ARID1A_ENST00000374152.2_Missense_Mutation_p.L1628R|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1794R|ARID1A_ENST00000540690.1_Missense_Mutation_p.L339R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2011					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTGCTCATCCTGGGCAAGCTG	0.547			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(6031-6033)CTG>CGG		AT rich interactive domain 1A isoform a							105.0	94.0	98.0					1																	27106421		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106421T>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6032T>G	1.37:g.27106421T>G	ENSP00000320485:p.Leu2011Arg					ARID1A_uc001bmu.1_Missense_Mutation_p.L1794R|ARID1A_uc001bmx.1_Missense_Mutation_p.L857R|ARID1A_uc009vsm.1_Missense_Mutation_p.L339R|ARID1A_uc009vsn.1_Missense_Mutation_p.L253R	p.L2011R	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6405	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2011					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6032T>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865105	0.71949	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000001	T	0.69958	0.3169	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	T	0.75294	-0.3368	10	0.87932	D	0	-8.2189	14.9138	0.70778	0.0:0.0:0.0:1.0	.	1628;2011;1794	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	R	2011;1794;1628;339	ENSP00000320485:L2011R;ENSP00000387636:L1794R;ENSP00000363267:L1628R;ENSP00000442437:L339R	ENSP00000320485:L2011R	L	+	2	0	ARID1A	26979008	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.676000	0.84012	2.174000	0.68829	0.402000	0.26972	CTG		0.547	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		35	77	0	0	0	0.003755	0	35	77		
MAP3K6	9064	broad.mit.edu	37	1	27683085	27683085	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:27683085C>G	ENST00000493901.1	-	26	3759	c.3520G>C	c.(3520-3522)Gat>Cat	p.D1174H	MAP3K6_ENST00000374040.3_Missense_Mutation_p.D1166H|MAP3K6_ENST00000357582.2_Missense_Mutation_p.D1174H	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1174					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTACCGATCAGTCTCTGCC	0.647																																						uc001bny.1		NaN																	0				breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9						c.(3520-3522)GAT>CAT		mitogen-activated protein kinase kinase kinase							40.0	43.0	42.0					1																	27683085		2203	4300	6503	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27683085C>G	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3520G>C	1.37:g.27683085C>G	ENSP00000419591:p.Asp1174His					MAP3K6_uc009vsw.1_Missense_Mutation_p.D1166H	p.D1174H	NM_004672	NP_004663	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	25	3769	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1174			Potential.		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.3520G>C	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601048	0.66332	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000374036;ENST00000357582	T;T;T	0.66280	-0.2;-0.2;-0.2	5.31	2.1	0.27182	.	.	.	.	.	T	0.49115	0.1538	L	0.44542	1.39	0.09310	N	1	B;B	0.32467	0.372;0.255	B;B	0.35607	0.206;0.101	T	0.33163	-0.9879	9	0.20519	T	0.43	.	4.4622	0.11671	0.0:0.4887:0.287:0.2243	.	1166;1174	O95382-3;O95382	.;M3K6_HUMAN	H	1166;1174;12;1174	ENSP00000363152:D1166H;ENSP00000419591:D1174H;ENSP00000350195:D1174H	ENSP00000350195:D1174H	D	-	1	0	MAP3K6	27555672	0.003000	0.15002	0.079000	0.20413	0.856000	0.48823	0.436000	0.21526	0.537000	0.28751	0.561000	0.74099	GAT		0.647	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2		NM_004672		9	53	0	0	0	0.004482	0	9	53		
KIAA1522	57648	broad.mit.edu	37	1	33236326	33236326	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:33236326G>C	ENST00000373480.1	+	6	1472	c.1369G>C	c.(1369-1371)Gat>Cat	p.D457H	KIAA1522_ENST00000373481.3_Missense_Mutation_p.D468H|KIAA1522_ENST00000401073.2_Missense_Mutation_p.D516H|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	457	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGCAGTGCCTGATGGGCCATT	0.682																																						uc001bvv.2		NaN																	0					0						c.(1369-1371)GAT>CAT		hypothetical protein LOC57648							16.0	19.0	18.0					1																	33236326		2025	4184	6209	SO:0001583	missense	57648							g.chr1:33236326G>C	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1369G>C	1.37:g.33236326G>C	ENSP00000362579:p.Asp457His					KIAA1522_uc001bvu.1_Missense_Mutation_p.D516H|KIAA1522_uc010ohm.1_Missense_Mutation_p.D468H|KIAA1522_uc010ohn.1_Intron	p.D457H	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	1505	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	457			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.1369G>C	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	8.752	0.921578	0.17982	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.13420	2.59;2.59;2.6	4.55	4.55	0.56014	.	0.246452	0.28047	N	0.016813	T	0.23846	0.0577	L	0.51422	1.61	0.26420	N	0.976114	D;D;D	0.64830	0.987;0.994;0.994	P;P;P	0.61874	0.821;0.895;0.895	T	0.04522	-1.0945	10	0.42905	T	0.14	-3.3975	7.3074	0.26455	0.1575:0.0:0.8425:0.0	.	468;457;516	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	H	516;468;457	ENSP00000383851:D516H;ENSP00000362580:D468H;ENSP00000362579:D457H	ENSP00000362579:D457H	D	+	1	0	KIAA1522	33008913	0.934000	0.31675	0.574000	0.28523	0.172000	0.22775	2.389000	0.44407	2.225000	0.72522	0.462000	0.41574	GAT		0.682	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1				12	27	0	0	0	0.010729	0	12	27		
STIL	6491	broad.mit.edu	37	1	47753284	47753284	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:47753284C>T	ENST00000360380.3	-	11	1435	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	STIL_ENST00000243182.6_Missense_Mutation_p.E358K|STIL_ENST00000371877.3_Missense_Mutation_p.E358K|STIL_ENST00000396221.2_Missense_Mutation_p.E358K|STIL_ENST00000337817.5_Missense_Mutation_p.E358K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	358					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTTTGGCTTTCAGCGCTCAGT	0.333																																						uc001crc.1		NaN																	0				lung(2)|skin(1)	3						c.(1072-1074)GAA>AAA		SCL/TAL1 interrupting locus isoform 2							65.0	63.0	64.0					1																	47753284		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47753284C>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1072G>A	1.37:g.47753284C>T	ENSP00000353544:p.Glu358Lys					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.E311K|STIL_uc010omo.1_Missense_Mutation_p.E358K|STIL_uc001crd.1_Missense_Mutation_p.E358K|STIL_uc001cre.1_Missense_Mutation_p.E358K|STIL_uc001crg.1_Missense_Mutation_p.E311K	p.E358K	NM_003035	NP_003026	Q15468	STIL_HUMAN			10	1227	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	358					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.1072G>A	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015702	0.35606	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.64	4.73	0.59995	.	0.135951	0.64402	N	0.000003	T	0.46308	0.1386	M	0.70595	2.14	0.47905	D	0.999549	B;B;B;B;B	0.19073	0.033;0.033;0.033;0.033;0.033	B;B;B;B;B	0.22753	0.037;0.037;0.037;0.041;0.041	T	0.40683	-0.9550	10	0.32370	T	0.25	-8.8425	10.3811	0.44113	0.0:0.8492:0.0:0.1508	.	358;311;358;358;358	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	K	358;358;358;358;358;311	ENSP00000353544:E358K;ENSP00000337367:E358K;ENSP00000360944:E358K;ENSP00000379523:E358K;ENSP00000243182:E358K;ENSP00000411664:E311K	ENSP00000243182:E358K	E	-	1	0	STIL	47525871	1.000000	0.71417	0.968000	0.41197	0.168000	0.22595	2.436000	0.44819	1.516000	0.48900	0.557000	0.71058	GAA		0.333	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2		NM_003035		25	26	0	0	0	0.00632	0	25	26		
MAGOH	4116	broad.mit.edu	37	1	53699227	53699227	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:53699227C>T	ENST00000371470.3	-	3	406	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	MAGOH_ENST00000371466.4_Intron|MAGOH_ENST00000462941.1_5'UTR	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	82					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						CCGGCCCACTCGGTCAGGAGG	0.453																																					Colon(150;521 2416 7674 18129)	uc001cvf.1		NaN																	0					0						c.(244-246)CGA>CAA		mago-nashi homolog							206.0	185.0	192.0					1																	53699227		2203	4300	6503	SO:0001583	missense	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53699227C>T	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.245G>A	1.37:g.53699227C>T	ENSP00000360525:p.Arg82Gln					MAGOH_uc010ont.1_Intron	p.R82Q	NM_002370	NP_002361	P61326	MGN_HUMAN			3	333	-			82					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Missense_Mutation	SNP	ENST00000371470.3	37	c.245G>A	CCDS577.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652074	0.88056	.	.	ENSG00000162385	ENST00000371470	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.74658	0.3745	M	0.93016	3.37	0.80722	D	1	P	0.37824	0.609	B	0.32342	0.144	T	0.81267	-0.1010	9	0.62326	D	0.03	-14.2199	19.2175	0.93783	0.0:1.0:0.0:0.0	.	82	P61326	MGN_HUMAN	Q	82	.	ENSP00000360525:R82Q	R	-	2	0	MAGOH	53471815	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.308000	0.78929	2.556000	0.86216	0.555000	0.69702	CGA		0.453	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1		NM_002370		88	85	0	0	0	0.01441	0	88	85		
PTPN22	26191	broad.mit.edu	37	1	114380326	114380326	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:114380326G>A	ENST00000359785.5	-	13	1831	c.1696C>T	c.(1696-1698)Ctg>Ttg	p.L566L	PTPN22_ENST00000420377.2_Silent_p.L566L|PTPN22_ENST00000538253.1_Silent_p.L322L|PTPN22_ENST00000525799.1_Silent_p.L439L|PTPN22_ENST00000528414.1_Silent_p.L511L|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	566					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGCAACAGAGAAGAAGGA	0.383																																						uc001eds.2		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(1696-1698)CTG>TTG		protein tyrosine phosphatase, non-receptor type							123.0	121.0	122.0					1																	114380326		2203	4300	6503	SO:0001819	synonymous_variant	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380326G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1696C>T	1.37:g.114380326G>A						PTPN22_uc009wgq.2_Silent_p.L511L|PTPN22_uc010owo.1_Silent_p.L322L|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Silent_p.L566L|PTPN22_uc009wgs.2_Silent_p.L439L|PTPN22_uc001edu.2_Silent_p.L566L	p.L566L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1826	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	566					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Silent	SNP	ENST00000359785.5	37	c.1696C>T	CCDS863.1																																																																																				0.383	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1		NM_015967		77	45	0	0	0	0.01441	0	77	45		
HSD3B1	3283	broad.mit.edu	37	1	120056930	120056930	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:120056930C>T	ENST00000369413.3	+	4	929	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	HSD3B1_ENST00000235547.6_Missense_Mutation_p.H264Y|HSD3B1_ENST00000528909.1_Missense_Mutation_p.H262Y			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	262					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TGACACGCCTCACCAAAGCTA	0.522																																						uc001ehv.1		NaN																	0				ovary(2)	2						c.(784-786)CAC>TAC		3 beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)|Trilostane(DB01108)						79.0	82.0	81.0					1																	120056930		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056930C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.784C>T	1.37:g.120056930C>T	ENSP00000358421:p.His262Tyr					HSD3B1_uc001ehw.2_Missense_Mutation_p.H264Y	p.H262Y	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	929	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	262					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.784C>T	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015749	0.54468	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.84442	-1.85;-1.85;-1.85	3.26	3.26	0.37387	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.146623	0.64402	D	0.000010	T	0.80259	0.4590	L	0.54863	1.705	0.49130	D	0.999753	P;D	0.53312	0.919;0.959	P;P	0.56088	0.703;0.791	T	0.78404	-0.2217	10	0.09843	T	0.71	-2.9573	12.346	0.55122	0.0:1.0:0.0:0.0	.	264;262	Q5TDG2;P14060	.;3BHS1_HUMAN	Y	262;264;262	ENSP00000358421:H262Y;ENSP00000235547:H264Y;ENSP00000432268:H262Y	ENSP00000235547:H264Y	H	+	1	0	HSD3B1	119858453	0.148000	0.22702	0.968000	0.41197	0.386000	0.30323	3.522000	0.53480	1.799000	0.52666	0.313000	0.20887	CAC		0.522	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3		NM_000862		136	64	0	0	0	0.01441	0	136	64		
TARS2	80222	broad.mit.edu	37	1	150479406	150479406	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:150479406G>A	ENST00000369064.3	+	18	2057	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	ECM1_ENST00000369049.4_5'Flank|ECM1_ENST00000346569.6_5'Flank|TARS2_ENST00000369054.2_Missense_Mutation_p.E545K|TARS2_ENST00000606933.1_Missense_Mutation_p.E593K|ECM1_ENST00000369047.4_5'Flank	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	675					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGGCCAGAAAGAGCAAAGTAA	0.507																																						uc001euq.2		NaN																	0				ovary(1)	1						c.(2023-2025)GAG>AAG		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						109.0	100.0	103.0					1																	150479406		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150479406G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.2023G>A	1.37:g.150479406G>A	ENSP00000358060:p.Glu675Lys					TARS2_uc001eur.2_Missense_Mutation_p.E593K|TARS2_uc009wlt.2_Missense_Mutation_p.E301K|TARS2_uc009wls.2_Missense_Mutation_p.E545K|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	p.E675K	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		18	2030	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		675					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.2023G>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450535	0.96205	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	D;D;D	0.85955	-2.05;-2.05;-2.05	5.26	5.26	0.73747	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.95143	0.8426	H	0.97758	4.07	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.999	D	0.96386	0.9285	10	0.87932	D	0	-19.3142	17.602	0.88028	0.0:0.0:1.0:0.0	.	545;400;675	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	K	545;675;400;400	ENSP00000358050:E545K;ENSP00000358060:E675K;ENSP00000358047:E400K	ENSP00000358047:E400K	E	+	1	0	TARS2	148746030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.158000	0.89649	2.731000	0.93534	0.655000	0.94253	GAG		0.507	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1		NM_025150		29	188	0	0	0	0.010818	0	29	188		
TARS2	80222	broad.mit.edu	37	1	150479442	150479442	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:150479442G>A	ENST00000369064.3	+	18	2093	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	ECM1_ENST00000369049.4_5'Flank|ECM1_ENST00000346569.6_5'Flank|TARS2_ENST00000369054.2_Missense_Mutation_p.D557N|TARS2_ENST00000606933.1_Missense_Mutation_p.D605N|ECM1_ENST00000369047.4_5'Flank	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	687					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCGGACTCGAGATAATCGTCG	0.522																																						uc001euq.2		NaN																	0				ovary(1)	1						c.(2059-2061)GAT>AAT		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						116.0	108.0	111.0					1																	150479442		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150479442G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.2059G>A	1.37:g.150479442G>A	ENSP00000358060:p.Asp687Asn					TARS2_uc001eur.2_Missense_Mutation_p.D605N|TARS2_uc009wlt.2_Missense_Mutation_p.D313N|TARS2_uc009wls.2_Missense_Mutation_p.D557N|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	p.D687N	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		18	2066	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		687					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.2059G>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054620	0.55218	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	D;D;D	0.84298	-1.83;-1.83;-1.83	5.26	3.35	0.38373	Anticodon-binding (3);	0.341614	0.30771	N	0.008920	T	0.76018	0.3929	M	0.79475	2.455	0.80722	D	1	P;B;B	0.35468	0.503;0.131;0.234	B;B;B	0.33196	0.159;0.038;0.072	T	0.77216	-0.2669	10	0.66056	D	0.02	-15.3468	9.5927	0.39557	0.0781:0.1429:0.779:0.0	.	557;412;687	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	N	557;687;412;412	ENSP00000358050:D557N;ENSP00000358060:D687N;ENSP00000358047:D412N	ENSP00000358047:D412N	D	+	1	0	TARS2	148746066	1.000000	0.71417	0.235000	0.24058	0.581000	0.36288	5.219000	0.65262	0.766000	0.33244	0.655000	0.94253	GAT		0.522	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1		NM_025150		35	186	0	0	0	0.012213	0	35	186		
CKS1B	1163	broad.mit.edu	37	1	154951211	154951211	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154951211C>T	ENST00000308987.5	+	3	245	c.198C>T	c.(196-198)atC>atT	p.I66I	CKS1B_ENST00000471245.1_3'UTR|MIR4258_ENST00000580920.1_RNA|CKS1B_ENST00000368439.1_Silent_p.I50I	NM_001826.2	NP_001817.1	P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	66					cell division (GO:0051301)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACCTCACATCTTGCTGTTCC	0.458																																						uc001fgb.2		NaN																	0					0						c.(196-198)ATC>ATT		CDC28 protein kinase 1B							105.0	98.0	100.0					1																	154951211		2203	4300	6503	SO:0001819	synonymous_variant	1163				cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding	g.chr1:154951211C>T	BC007751	CCDS1077.1	1q21.2	2011-04-28	2002-10-07		ENSG00000173207	ENSG00000173207			19083	protein-coding gene	gene with protein product		116900	"""CDC28 protein kinase 1B"""			2227411	Standard	NM_001826		Approved	ckshs1, CKS1	uc001fgb.3	P61024	OTTHUMG00000037413	ENST00000308987.5:c.198C>T	1.37:g.154951211C>T						CKS1B_uc001fga.2_RNA	p.I66I	NM_001826	NP_001817	P61024	CKS1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	302	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		66					P33551	Silent	SNP	ENST00000308987.5	37	c.198C>T	CCDS1077.1																																																																																				0.458	CKS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091078.1		NM_001826		48	3	0	0	0	0.01441	0	48	3		
DCST2	127579	broad.mit.edu	37	1	154995910	154995910	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154995910G>A	ENST00000368424.3	-	13	1952	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	632						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCAGGAGGCGGAAGCAAGTG	0.612																																						uc001fgm.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1894-1896)CGC>TGC		DC-STAMP domain containing 2							66.0	78.0	74.0					1																	154995910		2201	4298	6499	SO:0001583	missense	127579					integral to membrane		g.chr1:154995910G>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1894C>T	1.37:g.154995910G>A	ENSP00000357409:p.Arg632Cys					DCST2_uc009wpb.2_RNA	p.R632C	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		13	1974	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		632			Cytoplasmic (Potential).		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1894C>T	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106658	0.56291	.	.	ENSG00000163354	ENST00000368424	T	0.23950	1.88	4.06	2.06	0.26882	.	0.359284	0.21265	N	0.077413	T	0.11495	0.0280	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	P	0.47470	0.548	T	0.03315	-1.1049	10	0.56958	D	0.05	-14.2578	7.9251	0.29870	0.0:0.1773:0.6391:0.1836	.	632	Q5T1A1	DCST2_HUMAN	C	632	ENSP00000357409:R632C	ENSP00000357409:R632C	R	-	1	0	DCST2	153262534	0.774000	0.28592	0.999000	0.59377	0.997000	0.91878	0.488000	0.22371	0.407000	0.25591	0.655000	0.94253	CGC		0.612	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3		NM_144622		8	25	0	0	0	0.006214	0	8	25		
DCST2	127579	broad.mit.edu	37	1	154998788	154998788	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154998788G>A	ENST00000368424.3	-	10	1659	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	DCST2_ENST00000295536.5_Missense_Mutation_p.S534F	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	534						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGCTCCCGGGATGGGTAGTA	0.617																																						uc001fgm.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1600-1602)TCC>TTC		DC-STAMP domain containing 2							33.0	35.0	34.0					1																	154998788		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:154998788G>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1601C>T	1.37:g.154998788G>A	ENSP00000357409:p.Ser534Phe					DCST2_uc009wpb.2_RNA	p.S534F	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1681	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		534			Cytoplasmic (Potential).		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1601C>T	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	4.853	0.158530	0.09236	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.32023	1.47;1.47	5.48	1.28	0.21552	Dendritic cell-specific transmembrane protein-like (1);	0.553082	0.17167	N	0.184426	T	0.10551	0.0258	L	0.50919	1.6	0.20563	N	0.99989	B	0.10296	0.003	B	0.10450	0.005	T	0.27971	-1.0058	10	0.54805	T	0.06	-25.3486	6.4956	0.22140	0.1585:0.2784:0.5631:0.0	.	534	Q5T1A1	DCST2_HUMAN	F	534	ENSP00000357409:S534F;ENSP00000295536:S534F	ENSP00000295536:S534F	S	-	2	0	DCST2	153265412	0.057000	0.20700	0.562000	0.28370	0.951000	0.60555	0.426000	0.21363	0.283000	0.22279	0.655000	0.94253	TCC		0.617	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3		NM_144622		26	120	0	0	0	0.009535	0	26	120		
CD5L	922	broad.mit.edu	37	1	157803224	157803224	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:157803224C>G	ENST00000368174.4	-	5	893	c.797G>C	c.(796-798)gGc>gCc	p.G266A	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	266	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACAGACAGAGCCCCATACGCC	0.567																																						uc001frk.3		NaN																	0				ovary(1)	1						c.(796-798)GGC>GCC		CD5 molecule-like precursor							136.0	138.0	137.0					1																	157803224		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803224C>G	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.797G>C	1.37:g.157803224C>G	ENSP00000357156:p.Gly266Ala						p.G266A	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	940	-	all_hematologic(112;0.0378)		266			SRCR 3.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.797G>C	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810352	0.50421	.	.	ENSG00000073754	ENST00000368174	T	0.41758	0.99	4.88	3.97	0.46021	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000001	T	0.61800	0.2376	M	0.92738	3.34	0.35739	D	0.818539	D	0.89917	1.0	D	0.91635	0.999	T	0.72200	-0.4362	10	0.66056	D	0.02	.	10.5207	0.44918	0.0:0.9063:0.0:0.0937	.	266	O43866	CD5L_HUMAN	A	266	ENSP00000357156:G266A	ENSP00000357156:G266A	G	-	2	0	CD5L	156069848	1.000000	0.71417	0.998000	0.56505	0.318000	0.28184	4.528000	0.60580	1.261000	0.44149	0.655000	0.94253	GGC		0.567	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1		NM_005894		47	129	0	0	0	0.01441	0	47	129		
ATP1A2	477	broad.mit.edu	37	1	160094202	160094202	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:160094202C>G	ENST00000361216.3	+	6	701	c.612C>G	c.(610-612)atC>atG	p.I204M	ATP1A2_ENST00000392233.3_Missense_Mutation_p.I204M	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	204					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCGGATCATCTCTTCTCATG	0.567																																						uc001fvc.2		NaN																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(610-612)ATC>ATG		Na+/K+ -ATPase alpha 2 subunit proprotein							98.0	77.0	84.0					1																	160094202		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160094202C>G	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.612C>G	1.37:g.160094202C>G	ENSP00000354490:p.Ile204Met					ATP1A2_uc001fvb.2_Missense_Mutation_p.I204M|ATP1A2_uc010piz.1_Missense_Mutation_p.I49M	p.I204M	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		6	744	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		204			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.612C>G	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575057	0.65878	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.92397	-3.03;-3.03	5.27	5.27	0.74061	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.049667	0.85682	D	0.000000	D	0.95465	0.8527	M	0.88181	2.935	0.52501	D	0.999954	P;P	0.43857	0.679;0.819	P;P	0.62089	0.898;0.879	D	0.95934	0.8941	10	0.87932	D	0	.	11.1891	0.48675	0.0:0.9145:0.0:0.0855	.	49;204	B4DHD7;P50993	.;AT1A2_HUMAN	M	49;204;204	ENSP00000354490:I204M;ENSP00000376066:I204M	ENSP00000354490:I204M	I	+	3	3	ATP1A2	158360826	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.355000	0.34068	2.466000	0.83321	0.655000	0.94253	ATC		0.567	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2		NM_000702		9	38	0	0	0	0.004482	0	9	38		
XPR1	9213	broad.mit.edu	37	1	180804041	180804041	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:180804041T>G	ENST00000367590.4	+	10	1364	c.1166T>G	c.(1165-1167)gTa>gGa	p.V389G	XPR1_ENST00000367589.3_Missense_Mutation_p.V389G	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	389					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TTCCATAAGGTAGGCTTTGCT	0.403																																						uc001goi.2		NaN																	0					0						c.(1165-1167)GTA>GGA		xenotropic and polytropic retrovirus receptor							71.0	71.0	71.0					1																	180804041		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180804041T>G	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1166T>G	1.37:g.180804041T>G	ENSP00000356562:p.Val389Gly					XPR1_uc009wxm.2_Missense_Mutation_p.V389G|XPR1_uc009wxn.2_Missense_Mutation_p.V389G	p.V389G	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			10	1358	+			389			Helical; (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1166T>G	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852528	0.71719	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.54479	0.57;0.57	5.19	4.03	0.46877	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80977	-0.1141	10	0.87932	D	0	-6.4033	11.7556	0.51874	0.0:0.0:0.1477:0.8523	.	389;389	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	G	389	ENSP00000356562:V389G;ENSP00000356561:V389G	ENSP00000356561:V389G	V	+	2	0	XPR1	179070664	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.903000	0.87398	0.778000	0.33520	0.455000	0.32223	GTA		0.403	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2		NM_004736		17	98	0	0	0	0.00499	0	17	98		
PRG4	10216	broad.mit.edu	37	1	186270750	186270750	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:186270750G>A	ENST00000445192.2	+	4	271	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PRG4_ENST00000367484.3_Missense_Mutation_p.E35K|PRG4_ENST00000367485.4_Missense_Mutation_p.E76K|PRG4_ENST00000367483.4_Missense_Mutation_p.E35K|PRG4_ENST00000367486.3_Missense_Mutation_p.E76K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	76	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCGCTGCTTTGAGTCCTTCGA	0.483																																						uc001gru.3		NaN																	0				skin(1)	1						c.(226-228)GAG>AAG		proteoglycan 4 isoform A							141.0	130.0	134.0					1																	186270750		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186270750G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.226G>A	1.37:g.186270750G>A	ENSP00000399679:p.Glu76Lys					PRG4_uc001grt.3_Missense_Mutation_p.E35K|PRG4_uc009wyl.2_Missense_Mutation_p.E76K|PRG4_uc009wym.2_Missense_Mutation_p.E35K|PRG4_uc010poo.1_RNA	p.E76K	NM_005807	NP_005798	Q92954	PRG4_HUMAN			4	277	+			76			SMB 2.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.226G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680598	0.68042	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.62	5.62	0.85841	Somatomedin B domain (3);Somatomedin B, chordata (1);	0.000000	0.46145	D	0.000310	T	0.77075	0.4077	M	0.91300	3.195	0.37792	D	0.927404	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.993;0.993;0.996;0.993	D	0.83707	0.0185	10	0.87932	D	0	-15.1035	19.6699	0.95907	0.0:0.0:1.0:0.0	.	35;76;76;35	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	K	76;35;35;35;35;76;76	ENSP00000356456:E76K;ENSP00000356454:E35K;ENSP00000431330:E35K;ENSP00000356452:E35K;ENSP00000356453:E35K;ENSP00000356455:E76K;ENSP00000399679:E76K	ENSP00000356452:E35K	E	+	1	0	PRG4	184537373	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.714000	0.91412	2.639000	0.89480	0.585000	0.79938	GAG		0.483	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807		114	0	0	0	0	0.01441	0	114	0		
PRG4	10216	broad.mit.edu	37	1	186270756	186270756	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:186270756T>A	ENST00000445192.2	+	4	277	c.232T>A	c.(232-234)Ttc>Atc	p.F78I	PRG4_ENST00000367484.3_Missense_Mutation_p.F37I|PRG4_ENST00000367485.4_Missense_Mutation_p.F78I|PRG4_ENST00000367483.4_Missense_Mutation_p.F37I|PRG4_ENST00000367486.3_Missense_Mutation_p.F78I	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	78	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTTTGAGTCCTTCGAGAGAGG	0.483																																						uc001gru.3		NaN																	0				skin(1)	1						c.(232-234)TTC>ATC		proteoglycan 4 isoform A							144.0	132.0	136.0					1																	186270756		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186270756T>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.232T>A	1.37:g.186270756T>A	ENSP00000399679:p.Phe78Ile					PRG4_uc001grt.3_Missense_Mutation_p.F37I|PRG4_uc009wyl.2_Missense_Mutation_p.F78I|PRG4_uc009wym.2_Missense_Mutation_p.F37I|PRG4_uc010poo.1_RNA	p.F78I	NM_005807	NP_005798	Q92954	PRG4_HUMAN			4	283	+			78			SMB 2.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.232T>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225372	0.58668	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.62	5.62	0.85841	Somatomedin B domain (3);Somatomedin B, chordata (1);	0.000000	0.47093	D	0.000253	T	0.66327	0.2778	M	0.78916	2.43	0.33788	D	0.625145	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.995;0.997;0.998	T	0.78277	-0.2266	10	0.66056	D	0.02	-10.524	15.8331	0.78773	0.0:0.0:0.0:1.0	.	37;78;78;37	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	I	78;37;37;37;37;78;78	ENSP00000356456:F78I;ENSP00000356454:F37I;ENSP00000431330:F37I;ENSP00000356452:F37I;ENSP00000356453:F37I;ENSP00000356455:F78I;ENSP00000399679:F78I	ENSP00000356452:F37I	F	+	1	0	PRG4	184537379	1.000000	0.71417	0.993000	0.49108	0.903000	0.53119	7.092000	0.76930	2.133000	0.65898	0.477000	0.44152	TTC		0.483	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807		115	0	0	0	0	0.01441	0	115	0		
KCNT2	343450	broad.mit.edu	37	1	196250089	196250089	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:196250089G>A	ENST00000294725.9	-	25	3726	c.2811C>T	c.(2809-2811)atC>atT	p.I937I	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Silent_p.I863I|KCNT2_ENST00000367431.4_Silent_p.I863I|KCNT2_ENST00000367433.5_Silent_p.I913I|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	937					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						CATAAGTTCTGATCCATAAGT	0.348																																						uc001gtd.1		NaN																	0				ovary(5)|breast(1)|skin(1)	7						c.(2809-2811)ATC>ATT		potassium channel, subfamily T, member 2							92.0	91.0	91.0					1																	196250089		2202	4300	6502	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196250089G>A	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.2811C>T	1.37:g.196250089G>A						KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.I863I|KCNT2_uc001gtf.1_Silent_p.I913I|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.I913I|KCNT2_uc001gth.1_Silent_p.I434I	p.I937I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			25	2871	-			937			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.2811C>T	CCDS1384.1																																																																																				0.348	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2		NM_198503		91	2	0	0	0	0.01441	0	91	2		
ELF3	1999	broad.mit.edu	37	1	201984345	201984345	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:201984345A>G	ENST00000359651.3	+	8	4202	c.1010A>G	c.(1009-1011)tAc>tGc	p.Y337C	ELF3_ENST00000367283.3_Missense_Mutation_p.Y337C|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.Y337C					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AGGTACTACTACAAACGGGAG	0.597																																						uc001gxg.3		NaN																	0					0						c.(1009-1011)TAC>TGC		E74-like factor 3 (ets domain transcription							72.0	75.0	74.0					1																	201984345		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201984345A>G	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1010A>G	1.37:g.201984345A>G	ENSP00000352673:p.Tyr337Cys					ELF3_uc001gxi.3_Missense_Mutation_p.Y337C|ELF3_uc001gxh.3_Missense_Mutation_p.Y337C	p.Y337C	NM_004433	NP_004424	P78545	ELF3_HUMAN			8	4202	+			337	RYYY->AAAA: Partially abrogates repressive effect on the KRT4 promoter.		ETS.			Missense_Mutation	SNP	ENST00000359651.3	37	c.1010A>G	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254634	0.80135	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	T;T;T	0.18960	2.18;2.18;2.18	4.65	4.65	0.58169	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.64402	D	0.000001	T	0.49813	0.1579	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57929	-0.7726	10	0.87932	D	0	.	13.193	0.59722	1.0:0.0:0.0:0.0	.	337	P78545	ELF3_HUMAN	C	337;337;337;314	ENSP00000352673:Y337C;ENSP00000356253:Y337C;ENSP00000356252:Y337C	ENSP00000311348:Y314C	Y	+	2	0	ELF3	200250968	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.040000	0.93783	1.964000	0.57103	0.459000	0.35465	TAC		0.597	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		100	2	0	0	0	0.01441	0	100	2		
AVPR1B	553	broad.mit.edu	37	1	206225298	206225298	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:206225298C>T	ENST00000367126.4	+	1	1323	c.858C>T	c.(856-858)atC>atT	p.I286I	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	286					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTTTGTCATCGTGCTGGCCT	0.572																																						uc001hds.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(856-858)ATC>ATT		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						91.0	84.0	86.0					1																	206225298		2203	4300	6503	SO:0001819	synonymous_variant	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206225298C>T	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.858C>T	1.37:g.206225298C>T							p.I286I	NM_000707	NP_000698	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	1016	+			286			Helical; Name=6; (Potential).		B0M0J6|Q5TZ00	Silent	SNP	ENST00000367126.4	37	c.858C>T	CCDS30994.1																																																																																				0.572	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1		NM_000707		72	54	0	0	0	0.01441	0	72	54		
PCNXL2	80003	broad.mit.edu	37	1	233134081	233134081	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:233134081C>G	ENST00000258229.9	-	32	5941	c.5707G>C	c.(5707-5709)Ggc>Cgc	p.G1903R	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G555R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1903						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCTGGCTGCCACCACTCGGG	0.637																																						uc001hvl.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(5707-5709)GGC>CGC		pecanex-like 2							46.0	48.0	47.0					1																	233134081		2031	4201	6232	SO:0001583	missense	80003					integral to membrane		g.chr1:233134081C>G	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5707G>C	1.37:g.233134081C>G	ENSP00000258229:p.Gly1903Arg					PCNXL2_uc001hvk.1_Missense_Mutation_p.G555R|PCNXL2_uc001hvm.1_RNA	p.G1903R	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			32	5942	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1903					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.5707G>C	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	5.446	0.267480	0.10294	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.21932	1.98;3.17	5.34	0.914	0.19360	.	1.231740	0.05386	N	0.538169	T	0.08582	0.0213	N	0.08118	0	0.19575	N	0.999968	B;B	0.29432	0.242;0.244	B;B	0.20767	0.023;0.031	T	0.29058	-1.0024	10	0.25106	T	0.35	.	1.2046	0.01892	0.2603:0.4219:0.126:0.1918	.	1903;555	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	R	555;1903	ENSP00000340759:G555R;ENSP00000258229:G1903R	ENSP00000258229:G1903R	G	-	1	0	PCNXL2	231200704	0.052000	0.20516	0.390000	0.26220	0.192000	0.23643	0.893000	0.28336	0.619000	0.30197	0.563000	0.77884	GGC		0.637	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3		NM_014801		21	45	0	0	0	0.00333	0	21	45		
OR2T4	127074	broad.mit.edu	37	1	248525926	248525926	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:248525926G>A	ENST00000366475.1	+	1	1044	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	348						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(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGCTATGGAGTAGACCATTT	0.403																																						uc001ieh.1		NaN																	0				central_nervous_system(1)	1						c.(1042-1044)GAG>GAA		olfactory receptor, family 2, subfamily T,							75.0	79.0	78.0					1																	248525926		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525926G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.1044G>A	1.37:g.248525926G>A							p.E348E	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	1044	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		348			Cytoplasmic (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.1044G>A	CCDS31113.1																																																																																				0.403	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2		NM_001004696		158	6	0	0	0	0.01441	0	158	6		
ITGA8	8516	broad.mit.edu	37	10	15701026	15701026	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:15701026G>A	ENST00000378076.3	-	10	1273	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	307					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTGAATAAACGTCATATCCGT	0.318																																						uc001ioc.1		NaN																	0				ovary(3)|lung(3)	6						c.(919-921)ACG>ATG		integrin, alpha 8 precursor							53.0	56.0	55.0					10																	15701026		2202	4298	6500	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15701026G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.920C>T	10.37:g.15701026G>A	ENSP00000367316:p.Thr307Met					ITGA8_uc010qcb.1_Missense_Mutation_p.T292M	p.T307M	NM_003638	NP_003629	P53708	ITA8_HUMAN			10	920	-			307			Extracellular (Potential).|FG-GAP 4.		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.920C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379478	0.61845	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.23552	1.9	5.59	4.69	0.59074	.	0.248792	0.45867	N	0.000328	T	0.51143	0.1657	M	0.82193	2.58	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.52638	-0.8549	10	0.36615	T	0.2	.	11.7968	0.52104	0.082:0.0:0.918:0.0	.	292;307	F5H818;P53708	.;ITA8_HUMAN	M	307;292	ENSP00000367316:T307M	ENSP00000367316:T307M	T	-	2	0	ITGA8	15741032	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	5.153000	0.64888	1.377000	0.46286	-0.222000	0.12452	ACG		0.318	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1		NM_003638		12	31	0	0	0	0.001855	0	12	31		
WAC	51322	broad.mit.edu	37	10	28884845	28884845	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28884845C>G	ENST00000354911.4	+	7	955	c.794C>G	c.(793-795)tCt>tGt	p.S265C	WAC_ENST00000375664.4_Missense_Mutation_p.S220C|WAC_ENST00000375646.1_Intron|WAC_ENST00000428935.1_Missense_Mutation_p.S220C|WAC_ENST00000347934.4_Intron	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	265					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACTGTTCCTTCTAGTCCATTT	0.463																																						uc001iuf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(793-795)TCT>TGT		WW domain-containing adapter with a coiled-coil							170.0	150.0	157.0					10																	28884845		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28884845C>G	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.794C>G	10.37:g.28884845C>G	ENSP00000346986:p.Ser265Cys					WAC_uc001iud.2_Missense_Mutation_p.S220C|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Missense_Mutation_p.S220C|WAC_uc001iug.2_Intron|WAC_uc001iuh.2_Missense_Mutation_p.S220C	p.S265C	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			7	879	+			265					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.794C>G	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167863	0.57476	.	.	ENSG00000095787	ENST00000375664;ENST00000354911;ENST00000428935;ENST00000424454;ENST00000538000;ENST00000414108	T;T;T;T	0.50277	1.82;1.82;1.37;0.75	5.28	5.28	0.74379	.	0.268097	0.37136	N	0.002228	T	0.43919	0.1269	L	0.34521	1.04	0.52099	D	0.999944	P;P	0.49447	0.924;0.876	B;B	0.43360	0.417;0.237	T	0.42732	-0.9434	10	0.49607	T	0.09	-11.6104	18.895	0.92420	0.0:1.0:0.0:0.0	.	220;265	Q9BTA9-2;Q9BTA9	.;WAC_HUMAN	C	220;265;220;220;220;220	ENSP00000364816:S220C;ENSP00000346986:S265C;ENSP00000399706:S220C;ENSP00000415645:S220C	ENSP00000346986:S265C	S	+	2	0	WAC	28924851	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.246000	0.58740	2.464000	0.83262	0.455000	0.32223	TCT		0.463	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1		NM_100264		49	127	0	0	0	0.01441	0	49	127		
WAC	51322	broad.mit.edu	37	10	28906604	28906604	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28906604G>C	ENST00000354911.4	+	13	1926	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q	WAC_ENST00000375664.4_Missense_Mutation_p.E544Q|WAC_ENST00000375646.1_Missense_Mutation_p.E437Q|WAC_ENST00000347934.4_Missense_Mutation_p.E486Q	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	589					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ATTACGCGAAGAAGCGCATAA	0.289																																						uc001iuf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1765-1767)GAA>CAA		WW domain-containing adapter with a coiled-coil							35.0	37.0	36.0					10																	28906604		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28906604G>C	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1765G>C	10.37:g.28906604G>C	ENSP00000346986:p.Glu589Gln					WAC_uc001iud.2_Missense_Mutation_p.E544Q|WAC_uc001iue.2_Missense_Mutation_p.E279Q|WAC_uc001iug.2_Missense_Mutation_p.E486Q|WAC_uc001iuh.2_Missense_Mutation_p.E540Q	p.E589Q	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			13	1850	+			589					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.1765G>C	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823624	0.90873	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.42	5.42	0.78866	.	0.044830	0.85682	D	0.000000	T	0.60457	0.2270	L	0.48642	1.525	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.993	D;P;D	0.78314	0.991;0.851;0.979	T	0.62015	-0.6943	10	0.72032	D	0.01	-7.5691	19.2275	0.93822	0.0:0.0:1.0:0.0	.	544;486;589	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	Q	544;437;486;589	ENSP00000364816:E544Q;ENSP00000364797:E437Q;ENSP00000311106:E486Q;ENSP00000346986:E589Q	ENSP00000311106:E486Q	E	+	1	0	WAC	28946610	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.869000	0.99810	2.531000	0.85337	0.655000	0.94253	GAA		0.289	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1		NM_100264		14	29	0	0	0	0.001855	0	14	29		
WAC	51322	broad.mit.edu	37	10	28906611	28906611	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28906611A>G	ENST00000354911.4	+	13	1933	c.1772A>G	c.(1771-1773)cAt>cGt	p.H591R	WAC_ENST00000375664.4_Missense_Mutation_p.H546R|WAC_ENST00000375646.1_Missense_Mutation_p.H439R|WAC_ENST00000347934.4_Missense_Mutation_p.H488R	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	591					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GAAGAAGCGCATAACATGGGA	0.299																																						uc001iuf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1771-1773)CAT>CGT		WW domain-containing adapter with a coiled-coil							37.0	39.0	38.0					10																	28906611		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28906611A>G	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1772A>G	10.37:g.28906611A>G	ENSP00000346986:p.His591Arg					WAC_uc001iud.2_Missense_Mutation_p.H546R|WAC_uc001iue.2_Missense_Mutation_p.H281R|WAC_uc001iug.2_Missense_Mutation_p.H488R|WAC_uc001iuh.2_Missense_Mutation_p.H542R	p.H591R	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			13	1857	+			591					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.1772A>G	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544711	0.86022	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.69949	0.3168	M	0.62723	1.935	0.80722	D	1	D;D;D	0.67145	0.989;0.996;0.981	D;D;D	0.77557	0.985;0.99;0.966	T	0.73474	-0.3971	10	0.87932	D	0	-11.97	15.468	0.75419	1.0:0.0:0.0:0.0	.	546;488;591	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	R	546;439;488;591	ENSP00000364816:H546R;ENSP00000364797:H439R;ENSP00000311106:H488R;ENSP00000346986:H591R	ENSP00000311106:H488R	H	+	2	0	WAC	28946617	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.339000	0.96797	2.047000	0.60756	0.533000	0.62120	CAT		0.299	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1		NM_100264		17	29	0	0	0	0.006122	0	17	29		
A1CF	29974	broad.mit.edu	37	10	52601629	52601629	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:52601629C>T	ENST00000373993.1	-	3	402	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	A1CF_ENST00000374001.2_Missense_Mutation_p.E120K|A1CF_ENST00000395489.2_Missense_Mutation_p.E113K|A1CF_ENST00000282641.2_Missense_Mutation_p.E120K|A1CF_ENST00000395495.1_Missense_Mutation_p.E120K|A1CF_ENST00000373997.3_Missense_Mutation_p.E120K|A1CF_ENST00000373995.3_Missense_Mutation_p.E128K			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	120	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TACCTAATTTCATAATTATTA	0.318																																						uc001jjj.2		NaN																	0				central_nervous_system(1)	1						c.(358-360)GAA>AAA		apobec-1 complementation factor isoform 2							140.0	131.0	134.0					10																	52601629		2202	4299	6501	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52601629C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.358G>A	10.37:g.52601629C>T	ENSP00000363105:p.Glu120Lys					A1CF_uc010qhn.1_Missense_Mutation_p.E128K|A1CF_uc001jji.2_Missense_Mutation_p.E120K|A1CF_uc001jjh.2_Missense_Mutation_p.E128K|A1CF_uc010qho.1_Missense_Mutation_p.E128K|A1CF_uc009xov.2_Missense_Mutation_p.E120K|A1CF_uc001jjk.1_Missense_Mutation_p.E120K	p.E120K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			5	546	-			120			RRM 1.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.358G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118736	0.94385	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	L	0.48260	1.515	0.80722	D	1	B;B;D;B	0.71674	0.178;0.392;0.998;0.336	B;B;D;B	0.80764	0.234;0.345;0.994;0.155	T	0.02156	-1.1204	10	0.54805	T	0.06	-11.5837	16.7109	0.85385	0.0:1.0:0.0:0.0	.	113;120;120;128	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	K	120;120;120;128;120;120;103;113;120	ENSP00000363113:E120K;ENSP00000363105:E120K;ENSP00000363109:E120K;ENSP00000363107:E128K;ENSP00000282641:E120K;ENSP00000378873:E120K;ENSP00000378868:E113K;ENSP00000397953:E120K	ENSP00000282641:E120K	E	-	1	0	A1CF	52271635	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.741000	0.84997	2.611000	0.88343	0.467000	0.42956	GAA		0.318	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2		NM_014576		13	36	0	0	0	0.004007	0	13	36		
ANK3	288	broad.mit.edu	37	10	61830970	61830970	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:61830970C>T	ENST00000280772.2	-	37	9860	c.9669G>A	c.(9667-9669)gtG>gtA	p.V3223V	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3223					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGTTTCCTCCACTGTAGTCT	0.473																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(9667-9669)GTG>GTA		ankyrin 3 isoform 1							167.0	156.0	160.0					10																	61830970		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830970C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9669G>A	10.37:g.61830970C>T						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.V3223V	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	9861	-			3223					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.9669G>A	CCDS7258.1																																																																																				0.473	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		6	202	0	0	0	0.001168	0	6	202		
ANK3	288	broad.mit.edu	37	10	61836204	61836204	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:61836204C>T	ENST00000280772.2	-	37	4626	c.4435G>A	c.(4435-4437)Gaa>Aaa	p.E1479K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1479					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTACTCCGTTCAACTGTTTCT	0.378																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(4435-4437)GAA>AAA		ankyrin 3 isoform 1							61.0	61.0	61.0					10																	61836204		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61836204C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4435G>A	10.37:g.61836204C>T	ENSP00000280772:p.Glu1479Lys					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA	p.E1479K	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	4627	-			1479					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4435G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745216	0.69418	.	.	ENSG00000151150	ENST00000280772	T	0.66460	-0.21	5.69	5.69	0.88448	.	0.000000	0.43416	D	0.000568	T	0.63094	0.2482	L	0.44542	1.39	0.80722	D	1	P	0.46395	0.877	B	0.40741	0.339	T	0.64689	-0.6348	10	0.44086	T	0.13	.	19.7994	0.96500	0.0:1.0:0.0:0.0	.	1479	Q12955	ANK3_HUMAN	K	1479	ENSP00000280772:E1479K	ENSP00000280772:E1479K	E	-	1	0	ANK3	61506210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.684000	0.91462	0.585000	0.79938	GAA		0.378	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		30	10	0	0	0	0.007291	0	30	10		
JMJD1C	221037	broad.mit.edu	37	10	64960429	64960429	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:64960429G>A	ENST00000399262.2	-	11	5301	c.5083C>T	c.(5083-5085)Cct>Tct	p.P1695S	JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P1476S|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P1513S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1695					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACTGAACGAGGAATGCCAGCT	0.373																																						uc001jmn.2		NaN																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(5083-5085)CCT>TCT		jumonji domain containing 1C isoform a							70.0	60.0	63.0					10																	64960429		1838	4094	5932	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64960429G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5083C>T	10.37:g.64960429G>A	ENSP00000382204:p.Pro1695Ser					JMJD1C_uc001jml.2_Missense_Mutation_p.P1476S|JMJD1C_uc001jmm.2_Missense_Mutation_p.P1407S|JMJD1C_uc010qiq.1_Missense_Mutation_p.P1513S|JMJD1C_uc009xpi.2_Missense_Mutation_p.P1513S|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron	p.P1695S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			11	5383	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1695					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.5083C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459867	0.84317	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.56275	0.81;0.47;0.82	5.85	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	M	0.64997	1.995	0.80722	D	1	D;P	0.89917	1.0;0.869	D;P	0.91635	0.999;0.602	T	0.70189	-0.4940	10	0.45353	T	0.12	-15.9758	15.0774	0.72087	0.0679:0.0:0.9321:0.0	.	1695;1513	Q15652;A0T124	JHD2C_HUMAN;.	S	1695;1476;1513	ENSP00000382204:P1695S;ENSP00000384990:P1476S;ENSP00000444682:P1513S	ENSP00000382204:P1695S	P	-	1	0	JMJD1C	64630435	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	1.481000	0.48307	0.557000	0.71058	CCT		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241		8	29	0	0	0	0.00308	0	8	29		
PPRC1	23082	broad.mit.edu	37	10	103906993	103906993	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:103906993C>T	ENST00000278070.2	+	9	4283	c.4244C>T	c.(4243-4245)tCa>tTa	p.S1415L	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.S382L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1415	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCAGCCCCTCAAGCCAGGGC	0.612																																						uc001kum.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4243-4245)TCA>TTA		peroxisome proliferator-activated receptor							55.0	57.0	56.0					10																	103906993		2200	4299	6499	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906993C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4244C>T	10.37:g.103906993C>T	ENSP00000278070:p.Ser1415Leu					PPRC1_uc001kun.2_Missense_Mutation_p.S1295L|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	p.S1415L	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4283	+		Colorectal(252;0.122)	1415			Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4244C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312112	0.40895	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.34072	1.8;1.38	5.76	3.85	0.44370	.	0.974369	0.08507	N	0.935478	T	0.30696	0.0773	L	0.29908	0.895	0.29980	N	0.817811	B;B	0.23990	0.095;0.057	B;B	0.24155	0.051;0.014	T	0.27054	-1.0085	10	0.25751	T	0.34	.	14.0616	0.64804	0.5173:0.4827:0.0:0.0	.	1295;1415	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	L	1415;382	ENSP00000278070:S1415L;ENSP00000359029:S382L	ENSP00000278070:S1415L	S	+	2	0	PPRC1	103896983	0.012000	0.17670	0.996000	0.52242	0.874000	0.50279	0.726000	0.25984	0.716000	0.32124	0.462000	0.41574	TCA		0.612	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		68	35	0	0	0	0.01441	0	68	35		
PDCD11	22984	broad.mit.edu	37	10	105202183	105202183	+	Missense_Mutation	SNP	G	G	A	rs140495953		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:105202183G>A	ENST00000369797.3	+	32	5015	c.4921G>A	c.(4921-4923)Gtg>Atg	p.V1641M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1641					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGCCCGTGCCGTGGCTGAGAG	0.587																																						uc001kwy.1		NaN																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(4921-4923)GTG>ATG		programmed cell death 11		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	76.0	78.0	77.0		4921	5.7	1.0	10	dbSNP_134	77	0,8600		0,0,4300	no	missense	PDCD11	NM_014976.1	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1641/1872	105202183	1,13005	2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105202183G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4921G>A	10.37:g.105202183G>A	ENSP00000358812:p.Val1641Met						p.V1641M	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	32	5008	+		Colorectal(252;0.0747)|Breast(234;0.128)	1641					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.4921G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184236	0.94885	2.27E-4	0.0	ENSG00000148843	ENST00000369797	T	0.36878	1.23	5.67	5.67	0.87782	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64428	-0.6410	10	0.87932	D	0	-19.7146	19.7629	0.96329	0.0:0.0:1.0:0.0	.	1641	Q14690	RRP5_HUMAN	M	1641	ENSP00000358812:V1641M	ENSP00000358812:V1641M	V	+	1	0	PDCD11	105192173	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.642000	0.98461	2.666000	0.90696	0.561000	0.74099	GTG		0.587	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1				80	43	0	0	0	0.01441	0	80	43		
ACADSB	36	broad.mit.edu	37	10	124813245	124813245	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:124813245G>A	ENST00000358776.4	+	11	1277	c.1263G>A	c.(1261-1263)ttG>ttA	p.L421L	ACADSB_ENST00000368869.4_Silent_p.L319L	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	421					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	ACATCCAGTTGAACACCATTG	0.438																																						uc001lhb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1261-1263)TTG>TTA		acyl-Coenzyme A dehydrogenase, short/branched	L-Isoleucine(DB00167)						158.0	140.0	146.0					10																	124813245		2203	4300	6503	SO:0001819	synonymous_variant	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124813245G>A	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.1263G>A	10.37:g.124813245G>A						ACADSB_uc010qub.1_Silent_p.L319L	p.L421L	NM_001609	NP_001600	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	11	1380	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	421					B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	ENST00000358776.4	37	c.1263G>A	CCDS7634.1																																																																																				0.438	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1		NM_001609		23	93	0	0	0	0.005443	0	23	93		
CHST15	51363	broad.mit.edu	37	10	125801927	125801927	+	Missense_Mutation	SNP	T	T	G	rs201649749		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:125801927T>G	ENST00000346248.5	-	4	1565	c.923A>C	c.(922-924)tAt>tCt	p.Y308S	CHST15_ENST00000421115.1_Missense_Mutation_p.Y308S|CHST15_ENST00000435907.1_Missense_Mutation_p.Y308S	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	308					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTCCACGGGATAGCGGTCTCG	0.537																																						uc001lhl.2		NaN																	0				ovary(1)	1						c.(922-924)TAT>TCT		B cell RAG associated protein							112.0	97.0	102.0					10																	125801927		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125801927T>G	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.923A>C	10.37:g.125801927T>G	ENSP00000333947:p.Tyr308Ser					CHST15_uc001lhm.2_Missense_Mutation_p.Y308S|CHST15_uc001lhn.2_Missense_Mutation_p.Y308S|CHST15_uc010que.1_Missense_Mutation_p.Y308S|CHST15_uc001lho.2_Missense_Mutation_p.Y308S	p.Y308S	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN			3	1436	-			308			Lumenal (Potential).		O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.923A>C	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.899524	0.33535	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	5.72	4.53	0.55603	Sulfotransferase domain (1);	0.126503	0.56097	D	0.000040	T	0.37376	0.1001	N	0.12961	0.28	0.45676	D	0.998591	B;B	0.20052	0.041;0.007	B;B	0.19946	0.027;0.008	T	0.20907	-1.0261	9	0.30078	T	0.28	-41.9321	9.2953	0.37811	0.1143:0.0:0.1319:0.7538	.	308;308	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	S	308	.	ENSP00000333947:Y308S	Y	-	2	0	CHST15	125791917	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.952000	0.49097	2.194000	0.70268	0.533000	0.62120	TAT		0.537	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1		NM_015892		41	32	0	0	0	0.005524	0	41	32		
FANK1	92565	broad.mit.edu	37	10	127697960	127697960	+	Missense_Mutation	SNP	G	G	C	rs373107814		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:127697960G>C	ENST00000368693.1	+	11	1095	c.991G>C	c.(991-993)Gaa>Caa	p.E331Q	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Missense_Mutation_p.E325Q			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	331						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CTCCTTATTAGAAGAAAGGAA	0.413																																						uc001ljh.3		NaN																	0				ovary(1)	1						c.(991-993)GAA>CAA		fibronectin type III and ankyrin repeat domains							72.0	76.0	74.0					10																	127697960		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127697960G>C	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.991G>C	10.37:g.127697960G>C	ENSP00000357682:p.Glu331Gln					FANK1_uc009yan.2_Missense_Mutation_p.E357Q|FANK1_uc001lji.2_3'UTR	p.E331Q	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN			11	1095	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	331					Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.991G>C	CCDS31309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.02|16.02	3.004416|3.004416	0.54254|0.54254	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692|ENST00000456942	T;T;T|.	0.53206|.	0.63;0.63;1.27|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Ankyrin repeat-containing domain (2);|.	0.068835|.	0.56097|.	D|.	0.000034|.	T|.	0.58177|.	0.2104|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.80764|.	0.994;0.994|.	T|.	0.53373|.	-0.8448|.	10|.	0.66056|.	D|.	0.02|.	-37.9488|-37.9488	17.1918|17.1918	0.86881|0.86881	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	357;331|.	Q8TC84-3;Q8TC84|.	.;FANK1_HUMAN|.	Q|Y	325;331;268;357|184	ENSP00000357684:E325Q;ENSP00000357682:E331Q;ENSP00000357680:E268Q|.	ENSP00000357680:E268Q|.	E|X	+|+	1|3	0|2	FANK1|FANK1	127687950|127687950	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.121000|0.121000	0.20230|0.20230	6.413000|6.413000	0.73308|0.73308	2.588000|2.588000	0.87417|0.87417	0.563000|0.563000	0.77884|0.77884	GAA|TAG		0.413	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_145235		19	51	0	0	0	0.006122	0	19	51		
IGF2	3481	broad.mit.edu	37	11	2154863	2154863	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:2154863G>A	ENST00000416167.2	-	3	1356	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	IGF2_ENST00000418738.2_Missense_Mutation_p.R64C|IGF2_ENST00000381392.1_Missense_Mutation_p.R67C|IGF2_ENST00000434045.2_Missense_Mutation_p.R120C|IGF2_ENST00000381395.1_Missense_Mutation_p.R64C|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000300632.5_Missense_Mutation_p.R64C|IGF2_ENST00000381406.4_Missense_Mutation_p.R67C|IGF2_ENST00000381389.1_Missense_Mutation_p.R64C			P01344	IGF2_HUMAN	insulin-like growth factor 2	64	C.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACGATGCCACGGCTGCGACGG	0.662																																						uc009yde.2		NaN																	0				central_nervous_system(1)	1						c.(190-192)CGT>TGT		insulin-like growth factor 2 isoform 1							51.0	41.0	44.0					11																	2154863		2202	4298	6500	SO:0001583	missense	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154863G>A	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.190C>T	11.37:g.2154863G>A	ENSP00000414497:p.Arg64Cys					IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.R64C|IGF2_uc009ydf.2_Missense_Mutation_p.R120C|IGF2_uc001lvh.2_Missense_Mutation_p.R64C|INS-IGF2_uc001lvi.2_RNA	p.R64C	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	3	293	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	64			C.		B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000416167.2	37	c.190C>T	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140489	0.77775	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	2.55	2.55	0.30701	Insulin-like (4);	0.000000	0.64402	U	0.000001	D	0.94298	0.8168	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.939	D	0.94451	0.7667	10	0.87932	D	0	-11.7498	10.226	0.43225	0.0:0.0:1.0:0.0	.	120;64	C9JAF2;P01344	.;IGF2_HUMAN	C	64;67;64;64;67;120;67;64;64;64;67	ENSP00000370802:R64C;ENSP00000370813:R67C;ENSP00000414497:R64C;ENSP00000300632:R64C;ENSP00000391826:R120C;ENSP00000370799:R67C;ENSP00000370796:R64C;ENSP00000402047:R64C;ENSP00000338297:R64C	ENSP00000300632:R64C	R	-	1	0	IGF2	2111439	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.780000	0.55386	1.463000	0.47967	0.450000	0.29827	CGT		0.662	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2		NM_000612		11	35	0	0	0	0.010729	0	11	35		
DNHD1	144132	broad.mit.edu	37	11	6590023	6590023	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:6590023C>G	ENST00000527990.2	+	37	12790	c.12790C>G	c.(12790-12792)Ctg>Gtg	p.L4264V	DNHD1_ENST00000254579.6_Missense_Mutation_p.L4264V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4264					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCACTACCTCTGCTCCTCCT	0.602																																						uc001mdw.3		NaN																	0				ovary(2)	2						c.(12790-12792)CTG>GTG		dynein heavy chain domain 1 isoform 1							73.0	76.0	75.0					11																	6590023		2030	4177	6207	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6590023C>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12790C>G	11.37:g.6590023C>G	ENSP00000436180:p.Leu4264Val					DNHD1_uc001mea.3_Missense_Mutation_p.L533V|DNHD1_uc001meb.2_Missense_Mutation_p.L532V|DNHD1_uc001mec.2_Missense_Mutation_p.L532V|DNHD1_uc010rao.1_Missense_Mutation_p.L522V|DNHD1_uc009yfg.2_5'UTR	p.L4264V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	39	13354	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4264					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.12790C>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	8.142	0.785513	0.16189	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.09073	3.02;3.02	5.09	0.172	0.15031	Dynein heavy chain (1);	0.340665	0.23569	N	0.046780	T	0.08935	0.0221	L	0.53249	1.67	0.09310	N	1	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.44394	0.448;0.448;0.448;0.448	T	0.17868	-1.0355	10	0.45353	T	0.12	-7.942	6.0827	0.19950	0.0:0.4629:0.1392:0.3979	.	3352;532;317;4264	B0I1S4;D3DQT9;Q9NSW8;Q96M86	.;.;.;DNHD1_HUMAN	V	4264;4264;532;532	ENSP00000254579:L4264V;ENSP00000436180:L4264V	ENSP00000254579:L4264V	L	+	1	2	DNHD1	6546599	0.879000	0.30193	0.437000	0.26809	0.144000	0.21451	-0.085000	0.11250	0.163000	0.19507	-1.010000	0.02471	CTG		0.602	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2		NM_144666		17	14	0	0	0	0.00499	0	17	14		
RBMXL2	27288	broad.mit.edu	37	11	7111126	7111126	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:7111126G>A	ENST00000306904.5	+	1	962	c.775G>A	c.(775-777)Gac>Aac	p.D259N		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	259	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGCTACAGCGACCGAGACGG	0.662																																						uc001mfc.2		NaN																	0					0						c.(775-777)GAC>AAC		testes-specific heterogenous nuclear							25.0	28.0	27.0					11																	7111126		2194	4291	6485	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111126G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.775G>A	11.37:g.7111126G>A	ENSP00000304139:p.Asp259Asn						p.D259N	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	962	+			259			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.775G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791752	0.31685	.	.	ENSG00000170748	ENST00000306904	T	0.77877	-1.13	3.08	3.08	0.35506	.	0.059266	0.64402	U	0.000004	T	0.66954	0.2842	L	0.41573	1.285	0.47407	D	0.999414	D	0.63880	0.993	B	0.42245	0.381	T	0.65401	-0.6177	10	0.22706	T	0.39	.	12.3749	0.55275	0.0:0.0:1.0:0.0	.	259	O75526	HNRGT_HUMAN	N	259	ENSP00000304139:D259N	ENSP00000304139:D259N	D	+	1	0	RBMXL2	7067702	1.000000	0.71417	0.939000	0.37840	0.368000	0.29767	5.550000	0.67268	2.015000	0.59207	0.467000	0.42956	GAC		0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1		NM_014469		19	46	0	0	0	0.014323	0	19	46		
PIK3C2A	5286	broad.mit.edu	37	11	17113138	17113138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:17113138G>A	ENST00000265970.7	-	30	4707	c.4708C>T	c.(4708-4710)Cga>Tga	p.R1570*	PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.R1190*|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1570	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GTACCATTTCGGTAAGAGATG	0.388																																						uc001mmq.3		NaN																	0				lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(4708-4710)CGA>TGA		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						106.0	100.0	102.0					11																	17113138		2200	4294	6494	SO:0001587	stop_gained	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17113138G>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4708C>T	11.37:g.17113138G>A	ENSP00000265970:p.Arg1570*					PIK3C2A_uc009ygu.1_Nonsense_Mutation_p.R173*|PIK3C2A_uc010rcw.1_Nonsense_Mutation_p.R1190*|PIK3C2A_uc001mmr.3_Intron	p.R1570*	NM_002645	NP_002636	O00443	P3C2A_HUMAN			30	4774	-			1570			C2.		B0LPH2|B4E2G4|Q14CQ9	Nonsense_Mutation	SNP	ENST00000265970.7	37	c.4708C>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	41	9.132578	0.99077	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	.	.	.	5.31	3.39	0.38822	.	0.055932	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7146	8.7874	0.34830	0.0718:0.0:0.5095:0.4186	.	.	.	.	X	1570;1190	.	ENSP00000265970:R1570X	R	-	1	2	PIK3C2A	17069714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.464000	0.45067	0.591000	0.29711	0.655000	0.94253	CGA		0.388	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1		NM_002645		42	33	0	0	0	0.009718	0	42	33		
TCP11L1	55346	broad.mit.edu	37	11	33078731	33078731	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:33078731G>T	ENST00000334274.4	+	4	767	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	TCP11L1_ENST00000530171.1_Intron|TCP11L1_ENST00000531632.2_Missense_Mutation_p.D123Y|TCP11L1_ENST00000324357.9_5'Flank|TCP11L1_ENST00000432887.1_Missense_Mutation_p.D123Y	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	123						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						GCTAAGTGAAGATCCCCCAGC	0.433																																						uc001mud.2		NaN																	0					0						c.(367-369)GAT>TAT		t-complex 11 (mouse) like 1							217.0	202.0	207.0					11																	33078731		2202	4298	6500	SO:0001583	missense	55346							g.chr11:33078731G>T	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.367G>T	11.37:g.33078731G>T	ENSP00000335595:p.Asp123Tyr					TCP11L1_uc009yju.2_5'UTR|TCP11L1_uc010rei.1_Missense_Mutation_p.D123Y|TCP11L1_uc001mue.2_Missense_Mutation_p.D123Y|TCP11L1_uc001muf.1_5'Flank	p.D123Y	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN			4	767	+			123					D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	c.367G>T	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174939	0.78564	.	.	ENSG00000176148	ENST00000530419;ENST00000334274;ENST00000531632;ENST00000432887	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.73	3.86	0.44501	.	0.264374	0.47455	D	0.000224	T	0.28632	0.0709	M	0.79693	2.465	0.80722	D	1	P	0.51933	0.949	P	0.58013	0.831	T	0.05971	-1.0853	10	0.87932	D	0	-2.7061	11.6479	0.51271	0.142:0.0:0.858:0.0	.	123	Q9NUJ3	T11L1_HUMAN	Y	123	ENSP00000436428:D123Y;ENSP00000335595:D123Y;ENSP00000433067:D123Y;ENSP00000395070:D123Y	ENSP00000335595:D123Y	D	+	1	0	TCP11L1	33035307	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.694000	0.68272	1.428000	0.47296	0.561000	0.74099	GAT		0.433	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4		NM_018393		70	181	1	0	3.94896e-32	0.01441	4.44853e-32	70	181		
HIPK3	10114	broad.mit.edu	37	11	33369461	33369461	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:33369461G>A	ENST00000303296.4	+	11	2513	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	HIPK3_ENST00000456517.1_Silent_p.Q736Q|HIPK3_ENST00000525975.1_Silent_p.Q736Q|HIPK3_ENST00000379016.3_Silent_p.Q736Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	736					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGACCAATCAGATAACTTTAT	0.438																																						uc001mul.1		NaN																	0				large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(2206-2208)CAG>CAA		homeodomain interacting protein kinase 3 isoform							78.0	73.0	75.0					11																	33369461		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33369461G>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2208G>A	11.37:g.33369461G>A						HIPK3_uc001mum.1_Silent_p.Q736Q|HIPK3_uc009yjv.1_Silent_p.Q736Q	p.Q736Q	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			11	2478	+			736					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.2208G>A	CCDS7884.1																																																																																				0.438	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1		NM_005734		39	90	0	0	0	0.004878	0	39	90		
MTCH2	23788	broad.mit.edu	37	11	47653256	47653256	+	Missense_Mutation	SNP	C	C	G	rs144753500	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:47653256C>G	ENST00000302503.3	-	6	534	c.377G>C	c.(376-378)cGa>cCa	p.R126P	MTCH2_ENST00000542981.1_Intron|MTCH2_ENST00000534074.1_5'Flank	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	126					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GATCATCTCTCGAGTTGTCTA	0.423																																						uc010rho.1		NaN																	0					0						c.(376-378)CGA>CCA		mitochondrial carrier 2							158.0	128.0	138.0					11																	47653256		2201	4298	6499	SO:0001583	missense	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47653256C>G	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.377G>C	11.37:g.47653256C>G	ENSP00000303222:p.Arg126Pro					MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_Intron	p.R126P	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN			6	566	-			126			Solcar 2.		B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	c.377G>C	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961759	0.74016	.	.	ENSG00000109919	ENST00000302503;ENST00000530428;ENST00000530558	T;T	0.42513	0.97;0.97	5.71	5.71	0.89125	Mitochondrial carrier domain (2);	0.187006	0.47093	D	0.000254	T	0.54062	0.1835	M	0.78344	2.41	0.80722	D	1	P	0.50617	0.937	P	0.54210	0.745	T	0.54275	-0.8318	10	0.36615	T	0.2	.	8.8429	0.35153	0.0:0.8413:0.0:0.1587	.	126	Q9Y6C9	MTCH2_HUMAN	P	126;117;105	ENSP00000303222:R126P;ENSP00000432043:R117P	ENSP00000303222:R126P	R	-	2	0	MTCH2	47609832	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.663000	0.37429	2.709000	0.92574	0.655000	0.94253	CGA		0.423	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2		NM_014342		22	71	0	0	0	0.010504	0	22	71		
ARAP1	116985	broad.mit.edu	37	11	72423574	72423574	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:72423574C>A	ENST00000393609.3	-	6	989	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	ARAP1_ENST00000393605.3_Missense_Mutation_p.V23L|ARAP1_ENST00000429686.1_Missense_Mutation_p.V18L|ARAP1_ENST00000455638.2_Missense_Mutation_p.V263L|ARAP1_ENST00000426523.1_Missense_Mutation_p.V18L|ARAP1_ENST00000359373.5_Missense_Mutation_p.V263L|ARAP1_ENST00000334211.8_Missense_Mutation_p.V18L	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	263					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGACTGGCCACGCGCACGGCC	0.657																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NaN																	0				skin(1)	1						c.(787-789)GTG>TTG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							158.0	127.0	138.0					11																	72423574		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72423574C>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.787G>T	11.37:g.72423574C>A	ENSP00000377233:p.Val263Leu					ARAP1_uc001osv.2_Missense_Mutation_p.V263L|ARAP1_uc001osr.2_Missense_Mutation_p.V23L|ARAP1_uc001oss.2_Missense_Mutation_p.V18L|ARAP1_uc009yth.2_Missense_Mutation_p.V18L|ARAP1_uc010rre.1_Missense_Mutation_p.V18L	p.V263L	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			6	976	-			263					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.787G>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857636	0.51376	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.07114	3.28;3.28;3.26;3.31;3.28;3.31;3.22	4.34	4.34	0.51931	.	0.136422	0.32231	N	0.006399	T	0.16257	0.0391	L	0.29908	0.895	0.28713	N	0.903418	P;P;B;B;D	0.53312	0.931;0.931;0.025;0.015;0.959	P;P;B;B;D	0.65987	0.872;0.872;0.007;0.003;0.94	T	0.00837	-1.1546	10	0.87932	D	0	.	12.2025	0.54335	0.0:1.0:0.0:0.0	.	18;18;263;263;23	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	L	263;263;23;18;263;18;18;52	ENSP00000352332:V263L;ENSP00000390461:V263L;ENSP00000377230:V23L;ENSP00000335506:V18L;ENSP00000377233:V263L;ENSP00000392264:V18L;ENSP00000403127:V18L	ENSP00000335506:V18L	V	-	1	0	ARAP1	72101222	0.955000	0.32602	0.995000	0.50966	0.914000	0.54420	2.364000	0.44187	2.250000	0.74265	0.561000	0.74099	GTG		0.657	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		NM_001040118		138	80	1	0	3.73298e-82	0.01441	4.3766e-82	138	80		
XRRA1	143570	broad.mit.edu	37	11	74641373	74641373	+	Missense_Mutation	SNP	G	G	C	rs568647618	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:74641373G>C	ENST00000340360.6	-	6	703	c.372C>G	c.(370-372)atC>atG	p.I124M	XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000321448.8_De_novo_Start_InFrame|XRRA1_ENST00000527087.1_Missense_Mutation_p.I124M	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CTGAGGCATTGATATAAATCA	0.393																																						uc009yub.2		NaN																	0				central_nervous_system(1)	1						c.(370-372)ATC>ATG		X-ray radiation resistance associated 1							62.0	63.0	62.0					11																	74641373		1842	4061	5903	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74641373G>C	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.372C>G	11.37:g.74641373G>C	ENSP00000339918:p.Ile124Met					XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovo.2_Translation_Start_Site|XRRA1_uc001ovq.3_Missense_Mutation_p.I124M|XRRA1_uc001ovp.3_Translation_Start_Site|XRRA1_uc001ovr.2_Translation_Start_Site	p.I124M	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN			6	704	-			124			LRR 1.			Missense_Mutation	SNP	ENST00000340360.6	37	c.372C>G	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351338	0.61183	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.55588	1.69;0.53;0.51	5.81	3.92	0.45320	.	0.075893	0.51477	D	0.000086	T	0.68632	0.3022	M	0.78049	2.395	0.38308	D	0.943167	D;D	0.76494	0.999;0.999	D;D	0.87578	0.97;0.998	T	0.71441	-0.4592	10	0.72032	D	0.01	-19.3779	7.1392	0.25546	0.0857:0.0:0.7439:0.1704	.	124;124	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	M	124;124;124;124;132	ENSP00000339918:I124M;ENSP00000435838:I124M;ENSP00000437334:I132M	ENSP00000339918:I124M	I	-	3	3	XRRA1	74319021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.317000	0.33631	0.778000	0.33520	0.655000	0.94253	ATC		0.393	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1		NM_182969		2	5	0	0	0	0.004672	0	2	5		
MOGAT2	80168	broad.mit.edu	37	11	75439964	75439964	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:75439964C>G	ENST00000198801.5	+	5	850	c.780C>G	c.(778-780)ctC>ctG	p.L260L	MOGAT2_ENST00000526712.1_Silent_p.L178L	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	260					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CCCTCCCACTCTTTCATGGCC	0.537																																						uc010rru.1		NaN																	0				ovary(2)	2						c.(778-780)CTC>CTG		monoacylglycerol O-acyltransferase 2							181.0	154.0	163.0					11																	75439964		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439964C>G	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.780C>G	11.37:g.75439964C>G						MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Silent_p.L178L	p.L260L	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			5	780	+	Ovarian(111;0.103)		260					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.780C>G	CCDS8240.1																																																																																				0.537	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1		NM_025098		82	46	0	0	0	0.01441	0	82	46		
NOX4	50507	broad.mit.edu	37	11	89184974	89184974	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:89184974A>G	ENST00000263317.4	-	3	481	c.243T>C	c.(241-243)gcT>gcC	p.A81A	NOX4_ENST00000532825.1_Silent_p.A57A|NOX4_ENST00000542487.1_Silent_p.A57A|NOX4_ENST00000528341.1_Silent_p.A56A|NOX4_ENST00000424319.1_Silent_p.A57A|NOX4_ENST00000343727.5_Silent_p.A57A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Silent_p.A81A|NOX4_ENST00000527956.1_Silent_p.A57A|NOX4_ENST00000525196.1_Silent_p.A81A|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Silent_p.A102A|NOX4_ENST00000535633.1_Silent_p.A57A|NOX4_ENST00000527626.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	81	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTCGGAGGTAAGCCAAGAGTG	0.408																																						uc001pct.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(241-243)GCT>GCC		NADPH oxidase 4 isoform a							156.0	144.0	148.0					11																	89184974		2201	4299	6500	SO:0001819	synonymous_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89184974A>G	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.243T>C	11.37:g.89184974A>G						NOX4_uc009yvr.2_Silent_p.A56A|NOX4_uc001pcu.2_Silent_p.A7A|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Silent_p.A81A|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Silent_p.A81A|NOX4_uc010rtv.1_Silent_p.A57A|NOX4_uc009yvq.2_Silent_p.A57A|NOX4_uc009yvs.1_RNA	p.A81A	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			3	482	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	81			Ferric oxidoreductase.|Helical; (Potential).		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	c.243T>C	CCDS8285.1																																																																																				0.408	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1		NM_016931		13	90	0	0	0	0.013537	0	13	90		
CASP1	834	broad.mit.edu	37	11	104897665	104897665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:104897665C>T	ENST00000533400.1	-	8	1055	c.1020G>A	c.(1018-1020)tgG>tgA	p.W340*	CASP1_ENST00000531166.1_Nonsense_Mutation_p.W24*|CASP1_ENST00000353247.5_Nonsense_Mutation_p.W24*|CASP1_ENST00000527979.1_Nonsense_Mutation_p.W303*|CASP1_ENST00000436863.3_Nonsense_Mutation_p.W340*|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000525825.1_Nonsense_Mutation_p.W319*|CASP1_ENST00000526568.1_Nonsense_Mutation_p.W247*|CASP1_ENST00000593315.1_Nonsense_Mutation_p.W319*|CASP1_ENST00000594519.1_Nonsense_Mutation_p.W199*|CASP1_ENST00000534497.1_Nonsense_Mutation_p.W199*|CASP1_ENST00000446369.1_Nonsense_Mutation_p.W199*|CASP1_ENST00000598974.1_Nonsense_Mutation_p.W340*|CASP1_ENST00000393136.4_Nonsense_Mutation_p.W319*|CASP1_ENST00000415981.2_Nonsense_Mutation_p.W24*	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	340					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TGGGATGTCTCCAAGAAACAT	0.403																																					NSCLC(41;1246 1743 4934)	uc010rve.1		NaN																	0				ovary(2)	2						c.(1018-1020)TGG>TGA		caspase 1 isoform alpha precursor	Minocycline(DB01017)|Penicillamine(DB00859)						87.0	83.0	84.0					11																	104897665		2202	4298	6500	SO:0001587	stop_gained	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104897665C>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1020G>A	11.37:g.104897665C>T	ENSP00000433138:p.Trp340*					CASP1_uc001pig.2_Nonsense_Mutation_p.W247*|CASP1_uc001pik.2_Nonsense_Mutation_p.W303*|CASP1_uc010rvf.1_Nonsense_Mutation_p.W247*|CASP1_uc010rvg.1_Nonsense_Mutation_p.W319*|CASP1_uc010rvh.1_Nonsense_Mutation_p.W199*|CASP1_uc010rvi.1_Nonsense_Mutation_p.W24*|CASP1_uc001pim.3_Nonsense_Mutation_p.W340*|CASP1_uc009yxi.2_Nonsense_Mutation_p.W319*|CASP1_uc010rvj.1_Nonsense_Mutation_p.W340*|CASP1_uc009yxj.2_Nonsense_Mutation_p.W185*|CASP1_uc010rvk.1_3'UTR	p.W340*	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	8	1037	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	340					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Nonsense_Mutation	SNP	ENST00000533400.1	37	c.1020G>A	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	17.92	3.506481	0.64410	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	.	.	.	4.06	4.06	0.47325	.	0.203735	0.45867	D	0.000334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0967	0.65027	0.0:1.0:0.0:0.0	.	.	.	.	X	189;247;303;340;340;24;199;24;319;319;24;199	.	ENSP00000344132:W24X	W	-	3	0	CASP1	104402875	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	3.114000	0.50383	2.244000	0.73946	0.460000	0.39030	TGG		0.403	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1		NM_033292		46	29	0	0	0	0.013114	0	46	29		
BCO2	83875	broad.mit.edu	37	11	112050172	112050172	+	Missense_Mutation	SNP	T	T	C	rs112483486	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:112050172T>C	ENST00000357685.5	+	2	395	c.260T>C	c.(259-261)aTt>aCt	p.I87T	BCO2_ENST00000438022.1_Missense_Mutation_p.I53T|SDHD_ENST00000525468.1_Intron|BCO2_ENST00000393032.2_Missense_Mutation_p.I53T|AP002884.3_ENST00000532612.1_Missense_Mutation_p.I58T|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000532593.1_Intron|BCO2_ENST00000361053.4_Missense_Mutation_p.I87T|BCO2_ENST00000531169.1_Missense_Mutation_p.I53T|BCO2_ENST00000526088.1_Missense_Mutation_p.I53T			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	87					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CTACTTCGAATTGGACCTGGG	0.493													T|||	10	0.00199681	0.0	0.0043	5008	,	,		17914	0.001		0.002	False		,,,				2504	0.0041				GBM(177;1916 2099 21049 29541 39946)	uc001pnf.2		NaN																	0					0						c.(259-261)ATT>ACT		beta-carotene dioxygenase 2 isoform a		T	THR/ILE,THR/ILE	2,4400	4.2+/-10.8	0,2,2199	85.0	81.0	82.0		158,260	-0.8	0.1	11	dbSNP_132	82	6,8588	5.0+/-18.6	0,6,4291	yes	missense,missense	BCO2	NM_001037290.1,NM_031938.4	89,89	0,8,6490	CC,CT,TT		0.0698,0.0454,0.0616	benign,benign	53/546,87/580	112050172	8,12988	2201	4297	6498	SO:0001583	missense	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112050172T>C	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.260T>C	11.37:g.112050172T>C	ENSP00000350314:p.Ile87Thr					BCO2_uc001pne.1_Intron|BCO2_uc001png.2_Missense_Mutation_p.I87T|BCO2_uc001pnh.2_Missense_Mutation_p.I53T|BCO2_uc010rwt.1_Intron|BCO2_uc009yyn.2_Missense_Mutation_p.I53T|BCO2_uc001pni.2_Missense_Mutation_p.I53T	p.I87T	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN			2	377	+			87					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	c.260T>C	CCDS8358.2	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	T	3.469	-0.108298	0.06924	4.54E-4	6.98E-4	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000531169	D;D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43;-3.43	5.4	-0.782	0.10961	.	0.483741	0.23178	N	0.051058	D	0.85548	0.5722	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.008;0.008;0.004	T	0.72054	-0.4406	9	.	.	.	-3.4805	5.2827	0.15684	0.1423:0.3993:0.0:0.4584	.	64;87;87	C9JEZ9;E9PBI8;Q9BYV7	.;.;BCDO2_HUMAN	T	87;53;87;53;53;53	ENSP00000350314:I87T;ENSP00000376752:I53T;ENSP00000354338:I87T;ENSP00000414843:I53T;ENSP00000436615:I53T;ENSP00000437053:I53T	.	I	+	2	0	BCO2	111555382	0.424000	0.25490	0.111000	0.21465	0.284000	0.27059	0.317000	0.19487	0.052000	0.16007	-0.374000	0.07098	ATT		0.493	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3		NM_001037290		4	97	0	0	0	0.009096	0	4	97		
SPA17	53340	broad.mit.edu	37	11	124561605	124561605	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:124561605C>A	ENST00000532692.1	+	3	1660	c.239C>A	c.(238-240)cCt>cAt	p.P80H	SIAE_ENST00000525730.1_Intron|SPA17_ENST00000524614.1_3'UTR|SPA17_ENST00000227135.2_Missense_Mutation_p.P80H			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	80					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CAAGAACCACCTGAGAAAAGT	0.378																																						uc001qap.2		NaN																	0					0						c.(238-240)CCT>CAT		sperm autoantigenic protein 17							107.0	96.0	99.0					11																	124561605		2201	4299	6500	SO:0001583	missense	53340				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity	g.chr11:124561605C>A	AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.239C>A	11.37:g.124561605C>A	ENSP00000432305:p.Pro80His						p.P80H	NM_017425	NP_059121	Q15506	SP17_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)	4	375	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	80					B2R4F2|Q9BXF7	Missense_Mutation	SNP	ENST00000532692.1	37	c.239C>A	CCDS8450.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722606	0.30503	.	.	ENSG00000064199	ENST00000227135;ENST00000532692	.	.	.	4.65	0.323	0.15893	.	0.823922	0.10111	N	0.714634	T	0.34048	0.0884	L	0.50333	1.59	0.09310	N	1	P	0.51653	0.947	P	0.46796	0.527	T	0.18650	-1.0330	9	0.48119	T	0.1	1.2813	5.3755	0.16162	0.0:0.506:0.3119:0.1821	.	80	Q15506	SP17_HUMAN	H	80	.	ENSP00000227135:P80H	P	+	2	0	SPA17	124066815	0.047000	0.20315	0.009000	0.14445	0.284000	0.27059	0.102000	0.15272	-0.017000	0.14103	0.563000	0.77884	CCT		0.378	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387075.1		NM_017425		49	32	1	0	9.52127e-25	0.01441	1.06297e-24	49	32		
SRPR	6734	broad.mit.edu	37	11	126135303	126135303	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:126135303C>G	ENST00000332118.6	-	10	1325	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.E363Q	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	391					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ACCAGGGACTCCTGTAGGGCT	0.557																																						uc001qdh.2		NaN																	0					0						c.(1171-1173)GAG>CAG		signal recognition particle receptor							49.0	48.0	48.0					11																	126135303		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126135303C>G	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1171G>C	11.37:g.126135303C>G	ENSP00000328023:p.Glu391Gln					SRPR_uc010sbm.1_Missense_Mutation_p.E363Q	p.E391Q	NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	10	1222	-	all_hematologic(175;0.145)		391					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1171G>C	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648039	0.67358	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.0	5.0	0.66597	Signal recognition particle, SRP54 subunit, helical bundle (4);	0.094567	0.64402	D	0.000001	T	0.64735	0.2625	L	0.60455	1.87	0.80722	D	1	P;B	0.36837	0.571;0.218	B;B	0.42163	0.378;0.271	T	0.65459	-0.6163	9	0.42905	T	0.14	-28.1324	16.6507	0.85188	0.0:1.0:0.0:0.0	.	363;391	E9PJS4;P08240	.;SRPR_HUMAN	Q	391;363	.	ENSP00000328023:E391Q	E	-	1	0	SRPR	125640513	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.651000	0.83577	2.607000	0.88179	0.555000	0.69702	GAG		0.557	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2		NM_003139		49	31	0	0	0	0.01441	0	49	31		
PDE3A	5139	broad.mit.edu	37	12	20786637	20786637	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:20786637C>A	ENST00000359062.3	+	7	1811	c.1771C>A	c.(1771-1773)Cca>Aca	p.P591T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	591					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGTGGCAGACCATATTCCCA	0.418																																						uc001reh.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1771-1773)CCA>ACA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						73.0	69.0	71.0					12																	20786637		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20786637C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1771C>A	12.37:g.20786637C>A	ENSP00000351957:p.Pro591Thr						p.P591T	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			7	1793	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	591					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1771C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682567	0.47991	.	.	ENSG00000172572	ENST00000359062	T	0.53640	0.61	5.89	5.0	0.66597	.	0.537648	0.21087	N	0.080391	T	0.45875	0.1364	L	0.61218	1.895	0.45307	D	0.998304	B	0.29085	0.232	B	0.25614	0.062	T	0.35895	-0.9770	10	0.28530	T	0.3	.	15.2347	0.73419	0.0:0.8602:0.1398:0.0	.	591	Q14432	PDE3A_HUMAN	T	591	ENSP00000351957:P591T	ENSP00000351957:P591T	P	+	1	0	PDE3A	20677904	1.000000	0.71417	0.994000	0.49952	0.907000	0.53573	3.690000	0.54713	1.491000	0.48482	0.650000	0.86243	CCA		0.418	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2				18	27	1	0	2.48551e-13	0.00499	2.66355e-13	18	27		
ASUN	55726	broad.mit.edu	37	12	27068949	27068949	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:27068949C>T	ENST00000261191.7	-	11	1770	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	ASUN_ENST00000539625.1_Missense_Mutation_p.D311N	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	412					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATCCGGTAGTCTGTAACTCTT	0.383																																						uc001rhk.3		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1234-1236)GAC>AAC		hypothetical protein LOC55726							68.0	64.0	65.0					12																	27068949		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27068949C>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1234G>A	12.37:g.27068949C>T	ENSP00000261191:p.Asp412Asn					C12orf11_uc001rhj.3_Missense_Mutation_p.D37N|C12orf11_uc010sjk.1_Missense_Mutation_p.D311N	p.D412N	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			11	1771	-	Colorectal(261;0.0847)		412					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1234G>A	CCDS8708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.752695|4.752695	0.89753|0.89753	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745|ENST00000542392	T;T;T|.	0.66280|.	-0.2;-0.2;-0.2|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81635|0.81635	0.4864|0.4864	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;P|.	0.69078|.	0.997;0.884|.	D;P|.	0.83275|.	0.996;0.71|.	T|T	0.79804|0.79804	-0.1649|-0.1649	10|5	0.49607|.	T|.	0.09|.	-24.7173|-24.7173	20.5471|20.5471	0.99284|0.99284	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	412;311|.	Q9NVM9;B4DNK1|.	M89BB_HUMAN;.|.	N|K	116;412;311;56|125	ENSP00000445645:D116N;ENSP00000261191:D412N;ENSP00000443724:D311N|.	ENSP00000261191:D412N|.	D|R	-|-	1|2	0|0	C12orf11|C12orf11	26960216|26960216	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	7.758000|7.758000	0.85224|0.85224	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.383	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1		NM_018164		32	29	0	0	0	0.012213	0	32	29		
PTHLH	5744	broad.mit.edu	37	12	28116576	28116576	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:28116576C>G	ENST00000545234.1	-	5	769	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	PTHLH_ENST00000395868.3_Missense_Mutation_p.E77Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.E77Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.E77Q|PTHLH_ENST00000201015.4_Missense_Mutation_p.E77Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.E77Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000535992.1_Missense_Mutation_p.E77Q|PTHLH_ENST00000538310.1_Missense_Mutation_p.E77Q			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	77					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GGGGACACCTCCGAGGTAGCT	0.507																																						uc001rik.2		NaN																	0				breast(1)	1						c.(229-231)GAG>CAG		parathyroid hormone-like hormone isoform 1							185.0	187.0	186.0					12																	28116576		2203	4300	6503	SO:0001583	missense	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28116576C>G		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.229G>C	12.37:g.28116576C>G	ENSP00000441765:p.Glu77Gln					PTHLH_uc001ril.2_Missense_Mutation_p.E77Q|PTHLH_uc001rim.2_Missense_Mutation_p.E77Q|PTHLH_uc001rin.2_Missense_Mutation_p.E77Q	p.E77Q	NM_198966	NP_945317	P12272	PTHR_HUMAN			3	532	-	Lung SC(9;0.184)		77					Q15251|Q6FH74	Missense_Mutation	SNP	ENST00000545234.1	37	c.229G>C	CCDS44853.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383333	0.82792	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963;ENST00000534890	D;D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.83	4.94	0.65067	.	0.225081	0.46758	D	0.000278	D	0.86443	0.5934	L	0.44542	1.39	0.41214	D	0.986466	D	0.71674	0.998	D	0.71870	0.975	D	0.84864	0.0821	10	0.30078	T	0.28	-37.4405	13.7489	0.62894	0.0:0.9264:0.0:0.0736	.	77	P12272	PTHR_HUMAN	Q	77;77;77;77;77;77;77;77;77;85	ENSP00000379213:E77Q;ENSP00000441571:E77Q;ENSP00000441765:E77Q;ENSP00000441890:E77Q;ENSP00000346398:E77Q;ENSP00000201015:E77Q;ENSP00000440613:E77Q;ENSP00000379209:E77Q;ENSP00000444519:E77Q;ENSP00000445157:E85Q	ENSP00000201015:E77Q	E	-	1	0	PTHLH	28007843	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	6.051000	0.71072	1.465000	0.48006	0.585000	0.79938	GAG		0.507	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1		NM_198965		34	299	0	0	0	0.004289	0	34	299		
DENND5B	160518	broad.mit.edu	37	12	31568364	31568364	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:31568364C>T	ENST00000389082.5	-	12	2753	c.2489G>A	c.(2488-2490)aGa>aAa	p.R830K	DENND5B_ENST00000536562.1_Missense_Mutation_p.R865K|DENND5B_ENST00000306833.6_Missense_Mutation_p.R865K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	830	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				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						AGATTTTCTTCTTTCTGGTCC	0.333																																						uc001rki.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2488-2490)AGA>AAA		DENN/MADD domain containing 5B							57.0	49.0	51.0					12																	31568364		1826	4085	5911	SO:0001583	missense	160518					integral to membrane		g.chr12:31568364C>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.2489G>A	12.37:g.31568364C>T	ENSP00000373734:p.Arg830Lys					DENND5B_uc001rkh.1_Missense_Mutation_p.R865K|DENND5B_uc009zjq.1_Intron	p.R830K	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			12	2675	-			830			RUN 1.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.2489G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064553	0.76187	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.04015	3.73;3.84;3.84	4.05	4.05	0.47172	RUN (2);	0.066677	0.64402	D	0.000018	T	0.07999	0.0200	L	0.58101	1.795	0.58432	D	0.999999	P;P	0.38250	0.624;0.544	B;B	0.36922	0.223;0.236	T	0.25984	-1.0116	10	0.42905	T	0.14	-8.5786	16.7436	0.85466	0.0:1.0:0.0:0.0	.	830;865	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	K	830;865;865	ENSP00000373734:R830K;ENSP00000306482:R865K;ENSP00000444889:R865K	ENSP00000306482:R865K	R	-	2	0	DENND5B	31459631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.148000	0.77389	2.227000	0.72691	0.585000	0.79938	AGA		0.333	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		4	23	0	0	0	0.000602	0	4	23		
KIAA1551	55196	broad.mit.edu	37	12	32140179	32140179	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:32140179G>C	ENST00000312561.4	+	5	5423	c.5009G>C	c.(5008-5010)gGa>gCa	p.G1670A	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1670																	ATAGTTTCAGGAATAAAAAGT	0.289																																						uc001rks.2		NaN																	0				ovary(1)|skin(1)	2						c.(5008-5010)GGA>GCA		hypothetical protein LOC55196							47.0	50.0	49.0					12																	32140179		2203	4294	6497	SO:0001583	missense	55196							g.chr12:32140179G>C	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5009G>C	12.37:g.32140179G>C	ENSP00000310338:p.Gly1670Ala					C12orf35_uc001rkt.2_RNA	p.G1670A	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		5	5423	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1670					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.5009G>C	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364337	0.61513	.	.	ENSG00000174718	ENST00000312561	T	0.55760	0.5	4.86	4.86	0.63082	.	0.115670	0.38217	N	0.001762	T	0.68007	0.2954	M	0.65975	2.015	0.39721	D	0.971463	D	0.60160	0.987	D	0.66196	0.942	T	0.73011	-0.4117	10	0.87932	D	0	.	13.1881	0.59693	0.0:0.1598:0.8402:0.0	.	1670	Q9HCM1	CL035_HUMAN	A	1670	ENSP00000310338:G1670A	ENSP00000310338:G1670A	G	+	2	0	C12orf35	32031446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.660000	0.54496	2.383000	0.81215	0.462000	0.41574	GGA		0.289	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2		NM_018169		10	35	0	0	0	0.006214	0	10	35		
PDZRN4	29951	broad.mit.edu	37	12	41966494	41966494	+	Missense_Mutation	SNP	G	G	A	rs138042494		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:41966494G>A	ENST00000402685.2	+	10	1921	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R380Q|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R378Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	638							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGCAAGATTCGAAATCATGGA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23470	0.0		0.0	False		,,,				2504	0.0					uc010skn.1		NaN																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1315-1317)CGA>CAA		PDZ domain containing RING finger 4 isoform 2		G	GLN/ARG,GLN/ARG	8,4398	14.3+/-33.2	0,8,2195	102.0	97.0	99.0		1913,1139	1.7	0.0	12	dbSNP_134	99	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	PDZRN4	NM_001164595.1,NM_013377.3	43,43	0,11,6492	AA,AG,GG		0.0349,0.1816,0.0846	benign,benign	638/1037,380/779	41966494	11,12995	2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966494G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1913G>A	12.37:g.41966494G>A	ENSP00000384197:p.Arg638Gln					PDZRN4_uc001rmq.3_Missense_Mutation_p.R380Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.R378Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.R265Q	p.R439Q	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1384	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	638					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1316G>A	CCDS53777.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.972	0.749390	0.15778	0.001816	3.49E-4	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72505	-0.66;3.83;3.82	4.49	1.66	0.24008	.	0.491340	0.18803	N	0.130726	T	0.42832	0.1220	N	0.20483	0.58	0.09310	N	0.999997	P;B;B	0.46578	0.88;0.157;0.076	B;B;B	0.26864	0.074;0.052;0.031	T	0.30621	-0.9972	10	0.28530	T	0.3	-10.5756	8.4815	0.33045	0.3112:0.0:0.6888:0.0	.	638;378;380	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	638;380;378	ENSP00000384197:R638Q;ENSP00000439990:R380Q;ENSP00000298919:R378Q	ENSP00000298919:R378Q	R	+	2	0	PDZRN4	40252761	0.124000	0.22315	0.003000	0.11579	0.969000	0.65631	1.779000	0.38624	0.237000	0.21200	-0.143000	0.13931	CGA		0.453	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1		NM_013377		64	32	0	0	0	0.01441	0	64	32		
TUBA1C	84790	broad.mit.edu	37	12	49666750	49666750	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:49666750C>A	ENST00000301072.6	+	4	1365	c.1090C>A	c.(1090-1092)Cct>Act	p.P364T	TUBA1C_ENST00000541364.1_Missense_Mutation_p.P434T|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	364					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CACTGTGGTGCCTGGCGGAGA	0.562																																						uc001rtt.1		NaN																	0					0						c.(1090-1092)CCT>ACT		tubulin alpha 6							64.0	55.0	58.0					12																	49666750		2203	4300	6503	SO:0001583	missense	84790				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr12:49666750C>A	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.1090C>A	12.37:g.49666750C>A	ENSP00000301072:p.Pro364Thr					TUBA1C_uc001rts.2_Missense_Mutation_p.P329T|TUBA1C_uc010smh.1_Missense_Mutation_p.P434T|uc010smi.1_5'UTR	p.P364T	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN			4	1190	+			364						Missense_Mutation	SNP	ENST00000301072.6	37	c.1090C>A	CCDS8782.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878799	0.51801	.	.	ENSG00000167553	ENST00000541364;ENST00000301072;ENST00000321665	D;D	0.84370	-1.84;-1.84	4.89	4.89	0.63831	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94208	0.8141	M	0.93106	3.38	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.87578	0.969;0.998	D	0.95317	0.8417	10	0.87932	D	0	.	17.7706	0.88491	0.0:1.0:0.0:0.0	.	434;364	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	T	434;364;234	ENSP00000443475:P434T;ENSP00000301072:P364T	ENSP00000301072:P364T	P	+	1	0	TUBA1C	47953017	1.000000	0.71417	0.823000	0.32752	0.990000	0.78478	5.751000	0.68720	2.666000	0.90696	0.556000	0.70494	CCT		0.562	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1		NM_032704		74	48	1	0	1.15062e-32	0.01441	1.30009e-32	74	48		
PRPH	5630	broad.mit.edu	37	12	49691240	49691240	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:49691240G>C	ENST00000257860.4	+	6	2596	c.1097G>C	c.(1096-1098)cGa>cCa	p.R366P	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GAGGAGCTGCGACAGCTAAAA	0.652											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rtu.2		NaN																	0					0						c.(1096-1098)CGA>CCA		peripherin							18.0	20.0	20.0					12																	49691240		2201	4296	6497	SO:0001583	missense	5630						structural molecule activity	g.chr12:49691240G>C		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1097G>C	12.37:g.49691240G>C	ENSP00000257860:p.Arg366Pro		OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964		p.R366P	NM_006262	NP_006253	P41219	PERI_HUMAN			6	1172	+			366			Coil 2.|Rod.		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	c.1097G>C	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664200	0.67700	.	.	ENSG00000135406	ENST00000257860	D	0.89415	-2.51	5.48	4.6	0.57074	Filament (1);	0.000000	0.34580	N	0.003854	D	0.92681	0.7674	M	0.87269	2.87	0.09310	N	1	P	0.49961	0.93	P	0.56163	0.793	D	0.86967	0.2095	10	0.87932	D	0	.	7.6478	0.28331	0.2488:0.0:0.7512:0.0	.	366	P41219	PERI_HUMAN	P	366	ENSP00000257860:R366P	ENSP00000257860:R366P	R	+	2	0	PRPH	47977507	0.996000	0.38824	0.408000	0.26446	0.977000	0.68977	1.890000	0.39728	1.304000	0.44892	0.655000	0.94253	CGA		0.652	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1		NM_006262		10	16	0	0	0	0.010729	0	10	16		
AQP2	359	broad.mit.edu	37	12	50344837	50344837	+	Missense_Mutation	SNP	G	G	T	rs144443773		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:50344837G>T	ENST00000199280.3	+	1	309	c.224G>T	c.(223-225)tGc>tTc	p.C75F	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	75					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						ACTGTGGCCTGCCTGGTGGGC	0.647																																						uc001rvn.2		NaN																	0				ovary(2)	2						c.(223-225)TGC>TTC		aquaporin 2							34.0	34.0	34.0					12																	50344837		2202	4295	6497	SO:0001583	missense	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50344837G>T		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.224G>T	12.37:g.50344837G>T	ENSP00000199280:p.Cys75Phe						p.C75F	NM_000486	NP_000477	P41181	AQP2_HUMAN			1	314	+			75			Cytoplasmic (Potential).		Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	c.224G>T	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	G	1.488	-0.555426	0.03967	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;T	0.92048	-2.96;1.14	4.46	2.55	0.30701	Aquaporin-like (2);	0.320947	0.26183	N	0.025858	T	0.63954	0.2555	N	0.00071	-2.275	0.35675	D	0.813608	B	0.06786	0.001	B	0.06405	0.002	T	0.64114	-0.6483	10	0.07175	T	0.84	-13.6832	10.4911	0.44752	0.0:0.0:0.4873:0.5127	.	75	P41181	AQP2_HUMAN	F	75	ENSP00000199280:C75F;ENSP00000450022:C75F	ENSP00000199280:C75F	C	+	2	0	AQP2	48631104	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.308000	0.33528	0.403000	0.25479	0.655000	0.94253	TGC		0.647	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1		NM_000486		11	40	1	0	3.07112e-06	0.010729	3.18171e-06	11	40		
KRT83	3889	broad.mit.edu	37	12	52713085	52713085	+	Missense_Mutation	SNP	C	C	G	rs200073682|rs546502993		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52713085C>G	ENST00000293670.3	-	2	510	c.448G>C	c.(448-450)Gag>Cag	p.E150Q		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	150	Linker 1.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCAGCACTCGCGGTTTTGG	0.607																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	uc001saf.2		NaN																	0				skin(1)	1						c.(448-450)GAG>CAG		keratin 83							79.0	85.0	83.0					12																	52713085		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52713085C>G	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.448G>C	12.37:g.52713085C>G	ENSP00000293670:p.Glu150Gln						p.E150Q	NM_002282	NP_002273	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	511	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		150			Rod.|Linker 1.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.448G>C	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701102	0.48307	.	.	ENSG00000170523	ENST00000293670	T	0.75477	-0.94	4.39	-6.22	0.02058	Filament (1);	1.149250	0.07008	N	0.824607	T	0.53222	0.1783	N	0.16567	0.415	0.22468	N	0.999076	B	0.10296	0.003	B	0.16722	0.016	T	0.43814	-0.9368	10	0.56958	D	0.05	.	5.9423	0.19199	0.0:0.2328:0.3711:0.3962	.	150	P78385	KRT83_HUMAN	Q	150	ENSP00000293670:E150Q	ENSP00000293670:E150Q	E	-	1	0	KRT83	50999352	0.003000	0.15002	0.477000	0.27303	0.938000	0.57974	0.041000	0.13927	-1.435000	0.01972	-0.302000	0.09304	GAG		0.607	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1		NM_002282		111	62	0	0	0	0.01441	0	111	62		
KRT85	3891	broad.mit.edu	37	12	52758102	52758102	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52758102G>A	ENST00000257901.3	-	3	753	c.678C>T	c.(676-678)gtC>gtT	p.V226V	KRT85_ENST00000544265.1_Intron	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	226	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTTAGAACGACAAACTCAT	0.572																																						uc001sag.2		NaN																	0				ovary(1)	1						c.(676-678)GTC>GTT		keratin 85							100.0	99.0	100.0					12																	52758102		2203	4300	6503	SO:0001819	synonymous_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758102G>A	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.678C>T	12.37:g.52758102G>A							p.V226V	NM_002283	NP_002274	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	3	798	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		226			Rod.|Coil 1B.		Q9NSB1	Silent	SNP	ENST00000257901.3	37	c.678C>T	CCDS8824.1																																																																																				0.572	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1		NM_002283		55	42	0	0	0	0.01441	0	55	42		
KRT82	3888	broad.mit.edu	37	12	52788848	52788848	+	Missense_Mutation	SNP	C	C	T	rs140708995		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52788848C>T	ENST00000257974.2	-	9	1530	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	485	Tail.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCCTGGGGCTCGCAGGGGACA	0.642																																						uc001sai.1		NaN																	0				ovary(1)|skin(1)	2						c.(1453-1455)GAG>AAG		keratin 82		C	LYS/GLU	0,4406		0,0,2203	51.0	50.0	50.0		1453	2.9	0.9	12	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT82	NM_033033.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	485/514	52788848	1,13005	2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52788848C>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1453G>A	12.37:g.52788848C>T	ENSP00000257974:p.Glu485Lys						p.E485K	NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	9	1568	-			485			Tail.			Missense_Mutation	SNP	ENST00000257974.2	37	c.1453G>A	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	4.344	0.063345	0.08388	0.0	1.16E-4	ENSG00000161850	ENST00000257974	D	0.81821	-1.54	4.73	2.88	0.33553	.	0.426202	0.19617	N	0.109982	T	0.53238	0.1784	N	0.08118	0	0.23120	N	0.998264	B	0.31837	0.342	B	0.22753	0.041	T	0.38394	-0.9663	10	0.16896	T	0.51	.	4.7795	0.13195	0.0:0.6266:0.1789:0.1945	.	485	Q9NSB4	KRT82_HUMAN	K	485	ENSP00000257974:E485K	ENSP00000257974:E485K	E	-	1	0	KRT82	51075115	0.000000	0.05858	0.930000	0.37139	0.086000	0.17979	0.022000	0.13511	1.133000	0.42147	-0.224000	0.12420	GAG		0.642	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1		NM_033033		29	73	0	0	0	0.009535	0	29	73		
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56478854G>T	ENST00000267101.3	+	3	750	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104L|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																						uc001sjh.2		NaN																	9	Substitution - Missense(9)	p.V104M(1)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(310-312)GTG>TTG		erbB-3 isoform 1 precursor							186.0	159.0	168.0					12																	56478854		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56478854G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>T	12.37:g.56478854G>T	ENSP00000267101:p.Val104Leu					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45L|ERBB3_uc001sjg.2_Missense_Mutation_p.V104L	p.V104L	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		3	503	+			104		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).	Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.310G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.745072	0.30865	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	N	0.000573	T	0.67050	0.2852	N	0.25825	0.765	0.80722	D	1	B;P	0.42483	0.282;0.781	B;B	0.35859	0.149;0.212	T	0.69003	-0.5260	10	0.49607	T	0.09	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	L	104;45;104;104;104;45;45	ENSP00000448636:V104L;ENSP00000449138:V45L;ENSP00000267101:V104L;ENSP00000415753:V104L;ENSP00000449713:V45L;ENSP00000408340:V45L	ENSP00000267101:V104L	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				94	70	1	0	1.00155e-58	0.01441	1.16692e-58	94	70		
ZC3H10	84872	broad.mit.edu	37	12	56515127	56515127	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56515127C>T	ENST00000257940.2	+	3	1057	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	261							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GGTCAGCAACCTGCTGGCCAC	0.552																																						uc001sjp.1		NaN																	0					0						c.(781-783)CTG>TTG		zinc finger CCCH-type containing 10							78.0	74.0	76.0					12																	56515127		2203	4300	6503	SO:0001819	synonymous_variant	84872						nucleic acid binding|zinc ion binding	g.chr12:56515127C>T	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.781C>T	12.37:g.56515127C>T							p.L261L	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	970	+			261			Potential.			Silent	SNP	ENST00000257940.2	37	c.781C>T	CCDS8903.1																																																																																				0.552	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1		NM_032786		36	78	0	0	0	0.004878	0	36	78		
TIMELESS	8914	broad.mit.edu	37	12	56818910	56818910	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56818910C>T	ENST00000553532.1	-	14	1755	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	TIMELESS_ENST00000229201.4_Silent_p.K534K|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						Ccttcttcttcttcttccttc	0.468																																						uc001slf.2		NaN																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(1603-1605)AAG>AAA		timeless homolog							54.0	56.0	55.0					12																	56818910		2203	4300	6503	SO:0001819	synonymous_variant	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56818910C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1605G>A	12.37:g.56818910C>T							p.K535K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			14	1773	-			535						Silent	SNP	ENST00000553532.1	37	c.1605G>A	CCDS8918.1																																																																																				0.468	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		67	36	0	0	0	0.01441	0	67	36		
GLI1	2735	broad.mit.edu	37	12	57864227	57864227	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:57864227C>T	ENST00000228682.2	+	12	1795	c.1704C>T	c.(1702-1704)ggC>ggT	p.G568G	GLI1_ENST00000546141.1_Silent_p.G527G|GLI1_ENST00000543426.1_Silent_p.G440G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	568					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCCCCCCTGGCTCCCCACCAG	0.622																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NaN																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(1702-1704)GGC>GGT		GLI family zinc finger 1 isoform 1							59.0	59.0	59.0					12																	57864227		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864227C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1704C>T	12.37:g.57864227C>T						GLI1_uc009zpq.2_Silent_p.G440G	p.G568G	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	1782	+			568					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.1704C>T	CCDS8940.1																																																																																				0.622	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1		NM_005269		23	100	0	0	0	0.003954	0	23	100		
CDK4	1019	broad.mit.edu	37	12	58143281	58143281	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:58143281G>A	ENST00000257904.6	-	6	1004	c.639C>T	c.(637-639)ctC>ctT	p.L213L	CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000540325.1_Silent_p.L93L|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.S96F|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTCCACAGAAGAGAGGCCTAA	0.408			Mis			melanoma			Hereditary Melanoma																													uc001spv.2		NaN	yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma 			0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(637-639)CTC>CTT		cyclin-dependent kinase 4							78.0	79.0	79.0					12																	58143281		2203	4300	6503	SO:0001819	synonymous_variant	1019	Hereditary_Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58143281G>A	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.639C>T	12.37:g.58143281G>A						CDK4_uc010ssb.1_Silent_p.L93L|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank	p.L213L	NM_000075	NP_000066	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		6	866	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		213			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Silent	SNP	ENST00000257904.6	37	c.639C>T	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399158	0.62177	.	.	ENSG00000135446	ENST00000312990	T	0.34472	1.36	4.57	2.75	0.32379	.	.	.	.	.	T	0.39009	0.1062	.	.	.	0.25706	N	0.985531	.	.	.	.	.	.	T	0.28776	-1.0033	6	0.72032	D	0.01	.	8.3806	0.32468	0.0826:0.296:0.6214:0.0	.	.	.	.	F	96	ENSP00000316889:S96F	ENSP00000316889:S96F	S	-	2	0	CDK4	56429548	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.816000	0.27267	0.858000	0.35431	-0.136000	0.14681	TCT		0.408	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2		NM_000075		13	39	0	0	0	0.00245	0	13	39		
C12orf66	144577	broad.mit.edu	37	12	64588164	64588164	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:64588164G>A	ENST00000398055.3	-	3	849	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	C12orf66_ENST00000544871.1_Missense_Mutation_p.L213F|C12orf66_ENST00000311915.8_Missense_Mutation_p.L266F	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	266										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AACTTGGCAAGAAGCATGTTT	0.463																																						uc001srw.3		NaN																	0				ovary(1)	1						c.(796-798)CTT>TTT		hypothetical protein LOC144577							89.0	84.0	86.0					12																	64588164		1907	4111	6018	SO:0001583	missense	144577							g.chr12:64588164G>A		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.796C>T	12.37:g.64588164G>A	ENSP00000381132:p.Leu266Phe					C12orf66_uc009zql.2_Missense_Mutation_p.L213F	p.L266F	NM_152440	NP_689653	Q96MD2	CL066_HUMAN			3	855	-			266					C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	c.796C>T	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772206	0.69992	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.44881	0.91;0.91;0.91	5.94	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.80764	0.994;0.929	T	0.62338	-0.6875	9	.	.	.	-16.923	12.4464	0.55653	0.1013:0.0:0.8987:0.0	.	213;266	F5H2Q3;Q96MD2	.;CL066_HUMAN	F	266;213;266	ENSP00000311486:L266F;ENSP00000445481:L213F;ENSP00000381132:L266F	.	L	-	1	0	C12orf66	62874431	1.000000	0.71417	0.988000	0.46212	0.890000	0.51754	5.614000	0.67695	1.172000	0.42781	0.561000	0.74099	CTT		0.463	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1		NM_152440		43	109	0	0	0	0.01441	0	43	109		
C12orf56	115749	broad.mit.edu	37	12	64679744	64679744	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:64679744C>T	ENST00000543942.2	-	7	1836	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Missense_Mutation_p.D244N	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	404										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ACCAGCTCATCAACCCTTTGG	0.363																																						uc001ssa.3		NaN																	0					0						c.(730-732)GAT>AAT		hypothetical protein LOC115749							83.0	82.0	83.0					12																	64679744		2089	4255	6344	SO:0001583	missense	115749							g.chr12:64679744C>T		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1210G>A	12.37:g.64679744C>T	ENSP00000446101:p.Asp404Asn					uc001srx.2_Intron|C12orf56_uc001sry.2_5'UTR|C12orf56_uc001srz.2_5'UTR	p.D244N	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	5	730	-			407						Missense_Mutation	SNP	ENST00000543942.2	37	c.730G>A		.	.	.	.	.	.	.	.	.	.	C	11.45	1.641684	0.29157	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	4.41	4.41	0.53225	.	0.246720	0.32884	N	0.005526	T	0.54806	0.1881	M	0.77103	2.36	0.33577	D	0.599395	P	0.39250	0.665	B	0.39904	0.313	T	0.69884	-0.5024	8	.	.	.	-6.9259	12.7297	0.57191	0.0:1.0:0.0:0.0	.	244	Q8IXR9-2	.	N	244;405;407	.	.	D	-	1	0	C12orf56	62966011	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	1.058000	0.30504	2.454000	0.82982	0.655000	0.94253	GAT		0.363	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2		NM_001099676		8	13	0	0	0	0.00308	0	8	13		
PRKAB1	5564	broad.mit.edu	37	12	120106160	120106160	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:120106160G>A	ENST00000229328.5	+	1	603	c.111G>A	c.(109-111)ctG>ctA	p.L37L	PRKAB1_ENST00000540121.1_5'Flank|PRKAB1_ENST00000541640.1_Silent_p.L37L	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	37					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)	p.L37L(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	CCAAGATCCTGATGGACAGCC	0.647																																						uc009zwu.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)CTG>CTA		AMP-activated protein kinase beta 1	Adenosine monophosphate(DB00131)|Metformin(DB00331)						45.0	39.0	41.0					12																	120106160		2203	4300	6503	SO:0001819	synonymous_variant	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120106160G>A	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.111G>A	12.37:g.120106160G>A						PRKAB1_uc001txg.2_Silent_p.L37L	p.L37L	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	2	214	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		37					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Silent	SNP	ENST00000229328.5	37	c.111G>A	CCDS9191.1																																																																																				0.647	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2		NM_006253		27	15	0	0	0	0.007291	0	27	15		
CIT	11113	broad.mit.edu	37	12	120214582	120214582	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:120214582G>A	ENST00000261833.7	-	14	1782	c.1730C>T	c.(1729-1731)tCa>tTa	p.S577L	CIT_ENST00000392521.2_Missense_Mutation_p.S577L|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	577					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTCTTGCTGAGACAAGATC	0.448																																						uc001txi.1		NaN																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(1729-1731)TCA>TTA		citron							145.0	142.0	143.0					12																	120214582		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120214582G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1730C>T	12.37:g.120214582G>A	ENSP00000261833:p.Ser577Leu					CIT_uc001txh.1_Missense_Mutation_p.S111L|CIT_uc001txj.1_Missense_Mutation_p.S577L	p.S577L	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	14	1783	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	577			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.1730C>T	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.54|19.54	3.846733|3.846733	0.71603|0.71603	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.63580	.|-0.05;-0.04	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.079827	.|0.50627	.|D	.|0.000113	.|T	.|0.45756	.|0.1358	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.999982|0.999982	.|B;B;B	.|0.27229	.|0.105;0.172;0.015	.|B;B;B	.|0.22386	.|0.023;0.039;0.025	.|T	.|0.38499	.|-0.9658	.|10	.|0.39692	.|T	.|0.17	.|.	19.8377|19.8377	0.96663|0.96663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|577;577;110	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	X|L	205|577	.|ENSP00000376306:S577L;ENSP00000261833:S577L	.|ENSP00000261833:S577L	Q|S	-|-	1|2	0|0	CIT|CIT	118698965|118698965	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.989000|0.989000	0.77384|0.77384	8.062000|8.062000	0.89475|0.89475	2.711000|2.711000	0.92665|0.92665	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.448	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174		118	54	0	0	0	0.01441	0	118	54		
TMEM132B	114795	broad.mit.edu	37	12	126138414	126138414	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:126138414G>A	ENST00000299308.3	+	9	2403	c.2395G>A	c.(2395-2397)Ggc>Agc	p.G799S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G311S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	799						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCACCAAGGAGGCAGCAATGA	0.458																																						uc001uhe.1		NaN																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2395-2397)GGC>AGC		transmembrane protein 132B							81.0	82.0	81.0					12																	126138414		2075	4211	6286	SO:0001583	missense	114795					integral to membrane		g.chr12:126138414G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2395G>A	12.37:g.126138414G>A	ENSP00000299308:p.Gly799Ser					TMEM132B_uc001uhf.1_Missense_Mutation_p.G311S	p.G799S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2403	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		799			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2395G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	1.917	-0.449349	0.04572	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.09817	3.72;2.94	5.53	2.27	0.28462	.	2.644260	0.01113	N	0.005635	T	0.07863	0.0197	N	0.21324	0.655	0.41902	D	0.99042	B	0.23377	0.084	B	0.16289	0.015	T	0.49532	-0.8930	10	0.02654	T	1	.	9.068	0.36475	0.3856:0.0:0.6144:0.0	.	799	Q14DG7	T132B_HUMAN	S	799;311	ENSP00000299308:G799S;ENSP00000440436:G311S	ENSP00000299308:G799S	G	+	1	0	TMEM132B	124704367	1.000000	0.71417	0.908000	0.35775	0.120000	0.20174	2.775000	0.47702	0.705000	0.31890	0.650000	0.86243	GGC		0.458	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1		NM_052907		31	73	0	0	0	0.010818	0	31	73		
RIMBP2	23504	broad.mit.edu	37	12	130923033	130923033	+	Silent	SNP	G	G	A	rs551946345		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:130923033G>A	ENST00000261655.4	-	9	1645	c.1482C>T	c.(1480-1482)acC>acT	p.T494T	RIMBP2_ENST00000535703.1_Silent_p.T402T|RIMBP2_ENST00000536002.1_Silent_p.T402T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	494	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAGCCTGGACGGTAACATCTT	0.672													g|||	1	0.000199681	0.0	0.0	5008	,	,		11389	0.0		0.0	False		,,,				2504	0.001					uc001uil.2		NaN																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1480-1482)ACC>ACT		RIM-binding protein 2							23.0	23.0	23.0					12																	130923033		2203	4299	6502	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130923033G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1482C>T	12.37:g.130923033G>A						RIMBP2_uc001uim.2_Silent_p.T402T|RIMBP2_uc001uin.1_Silent_p.T153T	p.T494T	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	9	1646	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	494			Fibronectin type-III 3.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1482C>T	CCDS31925.1																																																																																				0.672	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1		NM_015347		15	9	0	0	0	0.00245	0	15	9		
SACS	26278	broad.mit.edu	37	13	23929191	23929191	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:23929191C>G	ENST00000382292.3	-	7	1833	c.1560G>C	c.(1558-1560)aaG>aaC	p.K520N	SACS_ENST00000476776.1_5'Flank|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.K520N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	520					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATCAGAGCTCTTTTCCATCT	0.453																																						uc001uon.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1558-1560)AAG>AAC		sacsin							77.0	84.0	82.0					13																	23929191		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929191C>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1560G>C	13.37:g.23929191C>G	ENSP00000371729:p.Lys520Asn					SACS_uc001uoo.2_Missense_Mutation_p.K373N|SACS_uc001uop.1_Missense_Mutation_p.K307N|SACS_uc001uoq.1_Missense_Mutation_p.K373N	p.K520N	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	2149	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	520					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.1560G>C	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.51|11.51	1.660173|1.660173	0.29515|0.29515	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000455470|ENST00000382292;ENST00000382298;ENST00000423156	.|T;T;T	.|0.17054	.|2.3;2.3;2.3	5.48|5.48	-0.444|-0.444	0.12245|0.12245	.|.	.|0.681690	.|0.15288	.|N	.|0.270329	T|T	0.16342|0.16342	0.0393|0.0393	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|P;P;B	.|0.36315	.|0.547;0.546;0.012	.|B;B;B	.|0.41946	.|0.371;0.222;0.01	T|T	0.25572|0.25572	-1.0128|-1.0128	5|10	.|0.19590	.|T	.|0.45	.|.	6.9545|6.9545	0.24563|0.24563	0.0:0.5129:0.1942:0.2929|0.0:0.5129:0.1942:0.2929	.|.	.|419;307;520	.|B2REB1;E9PAL4;Q9NZJ4	.|.;.;SACS_HUMAN	Q|N	420|520;520;144	.|ENSP00000371729:K520N;ENSP00000371735:K520N;ENSP00000390925:K144N	.|ENSP00000371729:K520N	E|K	-|-	1|3	0|2	SACS|SACS	22827191|22827191	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.944000|0.944000	0.59088|0.59088	-0.556000|-0.556000	0.05992|0.05992	-0.158000|-0.158000	0.11040|0.11040	0.561000|0.561000	0.74099|0.74099	GAG|AAG		0.453	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		63	112	0	0	0	0.01441	0	63	112		
LAMP1	3916	broad.mit.edu	37	13	113975875	113975875	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:113975875C>T	ENST00000332556.4	+	8	1141	c.947C>T	c.(946-948)cCt>cTt	p.P316L	LAMP1_ENST00000397181.3_Missense_Mutation_p.P263L	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	316	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GTTGCAGACCCTGCCTTTAAA	0.637																																						uc001vtm.1		NaN																	0				central_nervous_system(2)	2						c.(946-948)CCT>CTT		lysosomal-associated membrane protein 1							78.0	85.0	83.0					13																	113975875		1978	4151	6129	SO:0001583	missense	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113975875C>T	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.947C>T	13.37:g.113975875C>T	ENSP00000333298:p.Pro316Leu					LAMP1_uc010tka.1_Missense_Mutation_p.P263L	p.P316L	NM_005561	NP_005552	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		8	1228	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	316			Lumenal (Potential).|Second lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	37	c.947C>T	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360130	0.41801	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.32988	1.43;1.43	5.27	3.51	0.40186	.	0.607124	0.17242	N	0.181503	T	0.29321	0.0730	M	0.71036	2.16	0.20489	N	0.999898	P;B	0.35468	0.503;0.08	B;B	0.30029	0.11;0.091	T	0.28202	-1.0051	10	0.66056	D	0.02	-21.1356	8.0574	0.30612	0.0:0.7542:0.1612:0.0846	.	263;316	B4DWL3;P11279	.;LAMP1_HUMAN	L	316;263	ENSP00000333298:P316L;ENSP00000415354:P263L	ENSP00000333298:P316L	P	+	2	0	LAMP1	113023876	0.001000	0.12720	0.021000	0.16686	0.034000	0.12701	0.948000	0.29096	1.211000	0.43351	0.549000	0.68633	CCT		0.637	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2				90	50	0	0	0	0.01441	0	90	50		
OSGEP	55644	broad.mit.edu	37	14	20916071	20916071	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:20916071C>A	ENST00000206542.4	-	8	1206	c.785G>T	c.(784-786)gGa>gTa	p.G262V	OSGEP_ENST00000554249.1_Missense_Mutation_p.G80V|OSGEP_ENST00000555656.1_Missense_Mutation_p.G63V	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase											endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		ACACCCCACTCCTCCCACAAT	0.473																																						uc001vxf.2		NaN																	0					0						c.(784-786)GGA>GTA		O-sialoglycoprotein endopeptidase							94.0	97.0	96.0					14																	20916071		2203	4300	6503	SO:0001583	missense	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20916071C>A	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.785G>T	14.37:g.20916071C>A	ENSP00000206542:p.Gly262Val						p.G262V	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	8	1141	-	all_cancers(95;0.00123)	all_lung(585;0.235)	262						Missense_Mutation	SNP	ENST00000206542.4	37	c.785G>T	CCDS9549.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810501	0.70797	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785	T;T;T;T;T	0.62639	0.51;0.51;0.51;0.01;0.01	4.71	4.71	0.59529	Peptidase M22, glycoprotease (1);	0.049592	0.85682	N	0.000000	D	0.88786	0.6531	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94103	0.7364	10	0.87932	D	0	-7.7896	16.4221	0.83766	0.0:1.0:0.0:0.0	.	262	Q9NPF4	OSGEP_HUMAN	V	63;262;80;80;63	ENSP00000451784:G63V;ENSP00000206542:G262V;ENSP00000451548:G80V;ENSP00000450464:G80V;ENSP00000451787:G63V	ENSP00000206542:G262V	G	-	2	0	OSGEP	19985911	1.000000	0.71417	0.998000	0.56505	0.585000	0.36419	7.292000	0.78731	2.141000	0.66446	0.455000	0.32223	GGA		0.473	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3		NM_017807		103	59	1	0	5.07675e-46	0.01441	5.84216e-46	103	59		
ACIN1	22985	broad.mit.edu	37	14	23548812	23548812	+	Missense_Mutation	SNP	C	C	G	rs540245781		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:23548812C>G	ENST00000262710.1	-	6	2233	c.1906G>C	c.(1906-1908)Gag>Cag	p.E636Q	ACIN1_ENST00000555053.1_Missense_Mutation_p.E636Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.E578Q|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Missense_Mutation_p.E596Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	636	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GATCTGGACTCTGATGTTGAT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		21030	0.0		0.0	False		,,,				2504	0.001					uc001wit.3		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1906-1908)GAG>CAG		apoptotic chromatin condensation inducer 1							249.0	218.0	228.0					14																	23548812		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23548812C>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1906G>C	14.37:g.23548812C>G	ENSP00000262710:p.Glu636Gln					ACIN1_uc001wis.3_Missense_Mutation_p.E318Q|ACIN1_uc010akg.2_Missense_Mutation_p.E636Q|ACIN1_uc010tnj.1_Missense_Mutation_p.E596Q	p.E636Q	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	2234	-	all_cancers(95;1.36e-05)		636			Ser-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.1906G>C	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871033	0.72065	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.29655	2.39;1.56;2.39	5.89	5.89	0.94794	.	0.000000	0.41605	D	0.000851	T	0.43166	0.1235	L	0.27053	0.805	0.41529	D	0.988447	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.75484	0.986;0.968;0.968	T	0.22173	-1.0224	10	0.46703	T	0.11	-15.1568	15.7577	0.78046	0.0:1.0:0.0:0.0	.	636;636;596	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	Q	636;596;636	ENSP00000262710:E636Q;ENSP00000405677:E596Q;ENSP00000451328:E636Q	ENSP00000262710:E636Q	E	-	1	0	ACIN1	22618652	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.549000	0.53681	2.783000	0.95769	0.655000	0.94253	GAG		0.488	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977		95	106	0	0	0	0.01441	0	95	106		
IRF9	10379	broad.mit.edu	37	14	24631433	24631433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:24631433G>A	ENST00000396864.3	+	2	367	c.80G>A	c.(79-81)gGa>gAa	p.G27E	IRF9_ENST00000557894.1_Intron|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	27					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CAGTTTCCCGGAGTGTGCTGG	0.577																																						uc001wmq.2		NaN																	0				ovary(1)	1						c.(79-81)GGA>GAA		interferon-stimulated transcription factor 3,							133.0	119.0	124.0					14																	24631433		2203	4300	6503	SO:0001583	missense	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24631433G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.80G>A	14.37:g.24631433G>A	ENSP00000380073:p.Gly27Glu					RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'Flank	p.G27E	NM_006084	NP_006075	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	2	207	+			27			IRF tryptophan pentad repeat.		D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	c.80G>A	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	35	5.463579	0.96257	.	.	ENSG00000213928	ENST00000396864	D	0.99582	-6.22	5.64	5.64	0.86602	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.64402	U	0.000003	D	0.99771	0.9906	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97298	0.9929	10	0.87932	D	0	-10.7988	18.4869	0.90833	0.0:0.0:1.0:0.0	.	27	Q00978	IRF9_HUMAN	E	27	ENSP00000380073:G27E	ENSP00000380073:G27E	G	+	2	0	IRF9	23701273	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	9.077000	0.94016	2.664000	0.90586	0.655000	0.94253	GGA		0.577	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2				63	76	0	0	0	0.01441	0	63	76		
AKAP6	9472	broad.mit.edu	37	14	33291368	33291368	+	Missense_Mutation	SNP	C	C	T	rs367910480		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:33291368C>T	ENST00000280979.4	+	13	4519	c.4349C>T	c.(4348-4350)aCc>aTc	p.T1450I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1450					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACCAAACATACCCCTGACTGT	0.373																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NaN																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4348-4350)ACC>ATC		A-kinase anchor protein 6		C	ILE/THR	0,4406		0,0,2203	64.0	63.0	64.0		4349	5.6	1.0	14		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	AKAP6	NM_004274.4	89	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1450/2320	33291368	1,13005	2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291368C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4349C>T	14.37:g.33291368C>T	ENSP00000280979:p.Thr1450Ile						p.T1450I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4519	+	Breast(36;0.0388)|Prostate(35;0.15)		1450					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4349C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341997	0.41498	0.0	1.16E-4	ENSG00000151320	ENST00000280979	T	0.05513	3.43	5.55	5.55	0.83447	.	0.467007	0.24298	N	0.039757	T	0.09512	0.0234	L	0.57536	1.79	0.80722	D	1	P	0.49961	0.93	B	0.41571	0.36	T	0.01222	-1.1414	10	0.87932	D	0	-4.2108	12.344	0.55109	0.2125:0.7875:0.0:0.0	.	1450	Q13023	AKAP6_HUMAN	I	1450	ENSP00000280979:T1450I	ENSP00000280979:T1450I	T	+	2	0	AKAP6	32361119	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.932000	0.28884	2.606000	0.88127	0.563000	0.77884	ACC		0.373	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2		NM_004274		30	28	0	0	0	0.007291	0	30	28		
MAP4K5	11183	broad.mit.edu	37	14	50910669	50910669	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:50910669T>G	ENST00000013125.4	-	19	1743	c.1425A>C	c.(1423-1425)aaA>aaC	p.K475N		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	475					activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GGAAGTCTCGTTTGTCCTTTT	0.353																																						uc001wya.2		NaN																	0				large_intestine(1)	1						c.(1423-1425)AAA>AAC		mitogen-activated protein kinase kinase kinase							204.0	186.0	191.0					14																	50910669		1900	4110	6010	SO:0001583	missense	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50910669T>G	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1425A>C	14.37:g.50910669T>G	ENSP00000013125:p.Lys475Asn					MAP4K5_uc001wyb.2_Missense_Mutation_p.K475N|MAP4K5_uc010anv.1_Missense_Mutation_p.K475N|MAP4K5_uc001wyc.1_Missense_Mutation_p.K149N	p.K475N	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN			19	1745	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		475					Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37	c.1425A>C		.	.	.	.	.	.	.	.	.	.	T	17.08	3.296473	0.60086	.	.	ENSG00000012983	ENST00000013125	T	0.73897	-0.79	5.14	1.21	0.21127	.	0.046797	0.85682	D	0.000000	T	0.73628	0.3611	M	0.62723	1.935	0.46701	D	0.99916	D;B;D	0.53619	0.961;0.415;0.961	P;B;P	0.49637	0.617;0.196;0.617	T	0.71856	-0.4466	10	0.52906	T	0.07	.	9.2512	0.37555	0.0:0.6056:0.0:0.3944	.	149;475;475	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	N	475	ENSP00000013125:K475N	ENSP00000013125:K475N	K	-	3	2	MAP4K5	49980419	0.630000	0.27155	1.000000	0.80357	0.995000	0.86356	-0.467000	0.06664	0.267000	0.21916	-0.248000	0.11899	AAA		0.353	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1		NM_006575		6	7	0	0	0	0.001168	0	6	7		
TRIP11	9321	broad.mit.edu	37	14	92506013	92506013	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:92506013C>G	ENST00000267622.4	-	1	390	c.17G>C	c.(16-18)gGg>gCg	p.G6A	TRIP11_ENST00000555105.1_5'UTR	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	6					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G6E(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GCCGAGGCCCCCAAGCCAGGA	0.577			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NaN		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(16-18)GGG>GCG		thyroid hormone receptor interactor 11							22.0	21.0	21.0					14																	92506013		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92506013C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.17G>C	14.37:g.92506013C>G	ENSP00000267622:p.Gly6Ala					TRIP11_uc001xzz.3_RNA	p.G6A	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	1	805	-			6					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.17G>C	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791414	0.90367	.	.	ENSG00000100815	ENST00000267622	T	0.17691	2.26	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.33177	0.0854	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01312	-1.1388	10	0.31617	T	0.26	.	19.6367	0.95736	0.0:1.0:0.0:0.0	.	6	Q15643	TRIPB_HUMAN	A	6	ENSP00000267622:G6A	ENSP00000267622:G6A	G	-	2	0	TRIP11	91575766	1.000000	0.71417	0.975000	0.42487	0.977000	0.68977	5.572000	0.67411	2.635000	0.89317	0.549000	0.68633	GGG		0.577	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1				4	9	0	0	0	0.009096	0	4	9		
ATP10A	57194	broad.mit.edu	37	15	25958905	25958905	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:25958905G>A	ENST00000356865.6	-	10	2371	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	754					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGCGGGTGCCGGATCACCACT	0.607																																						uc010ayu.2		NaN																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2260-2262)CGG>TGG		ATPase, class V, type 10A							78.0	72.0	74.0					15																	25958905		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25958905G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2260C>T	15.37:g.25958905G>A	ENSP00000349325:p.Arg754Trp						p.R754W	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2366	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	754			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2260C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340940	0.60963	.	.	ENSG00000206190	ENST00000356865	D	0.83506	-1.73	4.49	2.42	0.29668	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.053759	0.64402	D	0.000002	D	0.93265	0.7854	H	0.96916	3.905	0.46028	D	0.998824	D	0.89917	1.0	D	0.91635	0.999	D	0.94277	0.7516	10	0.87932	D	0	-30.6145	12.122	0.53897	0.0:0.0:0.513:0.487	.	754	O60312	AT10A_HUMAN	W	754	ENSP00000349325:R754W	ENSP00000349325:R754W	R	-	1	2	ATP10A	23509998	0.994000	0.37717	0.994000	0.49952	0.849000	0.48306	1.009000	0.29886	1.007000	0.39238	0.555000	0.69702	CGG		0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1		NM_024490		31	65	0	0	0	0.007291	0	31	65		
HERC2	8924	broad.mit.edu	37	15	28375401	28375401	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:28375401A>G	ENST00000261609.7	-	83	12818	c.12710T>C	c.(12709-12711)gTt>gCt	p.V4237A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGGCCTTCGAACATGGTCATC	0.552																																						uc001zbj.2		NaN																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(12709-12711)GTT>GCT		hect domain and RLD 2							255.0	225.0	235.0					15																	28375401		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28375401A>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12710T>C	15.37:g.28375401A>G	ENSP00000261609:p.Val4237Ala						p.V4237A	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	83	12816	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4237			RCC1 18.			Missense_Mutation	SNP	ENST00000261609.7	37	c.12710T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.879885	0.91740	.	.	ENSG00000128731	ENST00000261609	D	0.85411	-1.98	5.03	5.03	0.67393	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.91321	0.7263	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91742	0.5405	10	0.52906	T	0.07	.	14.7546	0.69554	1.0:0.0:0.0:0.0	.	4237	O95714	HERC2_HUMAN	A	4237	ENSP00000261609:V4237A	ENSP00000261609:V4237A	V	-	2	0	HERC2	26048996	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	9.327000	0.96396	1.873000	0.54277	0.459000	0.35465	GTT		0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667		80	187	0	0	0	0.01441	0	80	187		
CASC5	57082	broad.mit.edu	37	15	40939188	40939188	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:40939188G>A	ENST00000346991.5	+	18	6478	c.6088G>A	c.(6088-6090)Gag>Aag	p.E2030K	CASC5_ENST00000399668.2_Missense_Mutation_p.E2004K|CTD-2339L15.3_ENST00000559841.1_RNA			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2030	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TATTTAGAATGAGAGGGAGAA	0.303																																						uc010bbs.1		NaN																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(6088-6090)GAG>AAG		cancer susceptibility candidate 5 isoform 1							70.0	71.0	70.0					15																	40939188		1797	4055	5852	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40939188G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6088G>A	15.37:g.40939188G>A	ENSP00000335463:p.Glu2030Lys					CASC5_uc010bbt.1_Missense_Mutation_p.E2004K	p.E2030K	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	18	6249	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	2030			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.|Potential.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.6088G>A	CCDS42023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.24|17.24	3.338388|3.338388	0.60963|0.60963	.|.	.|.	ENSG00000137812|ENSG00000137812	ENST00000346991;ENST00000399668|ENST00000532406	T;T|.	0.07800|.	3.16;3.16|.	4.68|4.68	3.75|3.75	0.43078|0.43078	.|.	0.195011|.	0.42294|.	D|.	0.000740|.	T|T	0.50394|0.50394	0.1613|0.1613	L|L	0.54323|0.54323	1.7|1.7	0.30201|0.30201	N|N	0.798579|0.798579	P;P|.	0.45957|.	0.869;0.869|.	P;P|.	0.54270|.	0.747;0.747|.	T|T	0.51092|0.51092	-0.8749|-0.8749	10|5	0.42905|.	T|.	0.14|.	.|.	11.0849|11.0849	0.48080|0.48080	0.0:0.1866:0.8134:0.0|0.0:0.1866:0.8134:0.0	.|.	2004;2030|.	Q8NG31-2;Q8NG31|.	.;CASC5_HUMAN|.	K|I	2030;2004|177	ENSP00000335463:E2030K;ENSP00000382576:E2004K|.	ENSP00000335463:E2030K|.	E|M	+|+	1|3	0|0	CASC5|CASC5	38726480|38726480	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.688000|0.688000	0.40055|0.40055	2.006000|2.006000	0.40874|0.40874	1.286000|1.286000	0.44565|0.44565	0.650000|0.650000	0.86243|0.86243	GAG|ATG		0.303	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2		NM_144508		22	27	0	0	0	0.012319	0	22	27		
MAP1A	4130	broad.mit.edu	37	15	43815124	43815124	+	Missense_Mutation	SNP	A	A	C	rs2584715		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815124A>C	ENST00000300231.5	+	4	1903	c.1453A>C	c.(1453-1455)Aaa>Caa	p.K485Q	MAP1A_ENST00000382031.1_Missense_Mutation_p.K723Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.K485Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	485	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).		K -> Q (in dbSNP:rs2584715).		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)	TGGAAGAGTCAAAATAGACAG	0.527																																						uc001zrt.2		NaN																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(1453-1455)AAA>CAA		microtubule-associated protein 1A	Estramustine(DB01196)						31.0	31.0	31.0					15																	43815124		1904	4109	6013	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815124A>C	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.1453A>C	15.37:g.43815124A>C	ENSP00000300231:p.Lys485Gln						p.K485Q	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	1920	+		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)	485			Lys-rich (basic).|9 X 3 AA repeats of K-K-[DE].		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.1453A>C	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.646424	0.47258	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.49432	0.78;0.78;0.78	5.39	5.39	0.77823	.	0.000000	0.33670	N	0.004672	T	0.68952	0.3057	M	0.78637	2.42	0.53005	D	0.999968	D	0.76494	0.999	D	0.71656	0.974	T	0.73119	-0.4083	10	0.66056	D	0.02	-21.4983	15.5825	0.76455	1.0:0.0:0.0:0.0	rs2584715;rs2584715	485	P78559	MAP1A_HUMAN	Q	723;485;485;485	ENSP00000371462:K723Q;ENSP00000382380:K485Q;ENSP00000300231:K485Q	ENSP00000300231:K485Q	K	+	1	0	MAP1A	41602416	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	9.139000	0.94554	2.263000	0.75096	0.533000	0.62120	AAA		0.527	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		8	33	0	0	0	0.00308	0	8	33		
MAP1A	4130	broad.mit.edu	37	15	43815610	43815610	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815610G>A	ENST00000300231.5	+	4	2389	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	MAP1A_ENST00000382031.1_Missense_Mutation_p.E885K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E647K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	647					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)	AAGTGAACCTGAAGTAAAGGA	0.488																																						uc001zrt.2		NaN																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(1939-1941)GAA>AAA		microtubule-associated protein 1A	Estramustine(DB01196)						39.0	39.0	39.0					15																	43815610		1927	4124	6051	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815610G>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.1939G>A	15.37:g.43815610G>A	ENSP00000300231:p.Glu647Lys						p.E647K	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	2406	+		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)	647					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.1939G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579740	0.28180	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.49139	0.79;0.79;0.79	5.26	5.26	0.73747	.	0.000000	0.32719	N	0.005738	T	0.67135	0.2861	M	0.79475	2.455	0.20873	N	0.999831	D	0.71674	0.998	D	0.78314	0.991	T	0.60250	-0.7300	10	0.36615	T	0.2	-20.031	13.3551	0.60623	0.0776:0.0:0.9224:0.0	.	647	P78559	MAP1A_HUMAN	K	885;647;647	ENSP00000371462:E885K;ENSP00000382380:E647K;ENSP00000300231:E647K	ENSP00000300231:E647K	E	+	1	0	MAP1A	41602902	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	6.627000	0.74258	2.735000	0.93741	0.563000	0.77884	GAA		0.488	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		15	27	0	0	0	0.004007	0	15	27		
MAP1A	4130	broad.mit.edu	37	15	43815622	43815622	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815622G>A	ENST00000300231.5	+	4	2401	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	MAP1A_ENST00000382031.1_Missense_Mutation_p.D889N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D651N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	651					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)	AGTAAAGGAGGATGTGATAGA	0.473																																						uc001zrt.2		NaN																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(1951-1953)GAT>AAT		microtubule-associated protein 1A	Estramustine(DB01196)						42.0	43.0	42.0					15																	43815622		1938	4128	6066	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815622G>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.1951G>A	15.37:g.43815622G>A	ENSP00000300231:p.Asp651Asn						p.D651N	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	2418	+		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)	651					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.1951G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451568	0.63290	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.62105	0.05;0.05;0.05	5.26	5.26	0.73747	.	0.000000	0.33253	N	0.005111	T	0.79557	0.4466	M	0.79475	2.455	0.52501	D	0.999959	D	0.71674	0.998	D	0.66351	0.943	T	0.81346	-0.0974	10	0.66056	D	0.02	-16.6705	19.0716	0.93140	0.0:0.0:1.0:0.0	.	651	P78559	MAP1A_HUMAN	N	889;651;651	ENSP00000371462:D889N;ENSP00000382380:D651N;ENSP00000300231:D651N	ENSP00000300231:D651N	D	+	1	0	MAP1A	41602914	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.543000	0.82106	2.735000	0.93741	0.563000	0.77884	GAT		0.473	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		15	26	0	0	0	0.004007	0	15	26		
MAP1A	4130	broad.mit.edu	37	15	43816951	43816951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43816951C>T	ENST00000300231.5	+	4	3730	c.3280C>T	c.(3280-3282)Cag>Tag	p.Q1094*	MAP1A_ENST00000382031.1_Nonsense_Mutation_p.Q1332*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.Q1094*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1094					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)	GTTGCCAGCACAGGATAAAGC	0.542																																						uc001zrt.2		NaN																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(3280-3282)CAG>TAG		microtubule-associated protein 1A	Estramustine(DB01196)						85.0	87.0	87.0					15																	43816951		1942	4129	6071	SO:0001587	stop_gained	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816951C>T	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.3280C>T	15.37:g.43816951C>T	ENSP00000300231:p.Gln1094*						p.Q1094*	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	3747	+		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)	1094					O95643|Q12973|Q15882|Q9UJT4	Nonsense_Mutation	SNP	ENST00000300231.5	37	c.3280C>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	39	7.738855	0.98462	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	.	.	.	5.55	4.63	0.57726	.	0.000000	0.32273	N	0.006333	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.4762	14.9567	0.71120	0.0:0.7316:0.2684:0.0	.	.	.	.	X	1332;1094;1094	.	ENSP00000300231:Q1094X	Q	+	1	0	MAP1A	41604243	0.623000	0.27094	0.998000	0.56505	0.025000	0.11179	0.976000	0.29462	1.583000	0.49898	0.655000	0.94253	CAG		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		6	161	0	0	0	0.001168	0	6	161		
DUOXA2	405753	broad.mit.edu	37	15	45408927	45408927	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:45408927G>A	ENST00000323030.5	+	4	839	c.554G>A	c.(553-555)tGg>tAg	p.W185*	DUOX2_ENST00000603300.1_5'Flank|DUOX2_ENST00000389039.6_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	185					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GCCACGCTATGGTAAGTGCTG	0.642																																						uc001zuo.2		NaN																	0					0						c.(553-555)TGG>TAG		dual oxidase activator 2							26.0	29.0	28.0					15																	45408927		2184	4274	6458	SO:0001630	splice_region_variant	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45408927G>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.554+1G>A	15.37:g.45408927G>A						DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	p.W185*	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	4	834	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	185			Helical; (Potential).		B2RPI9|H0YNQ6	Nonsense_Mutation	SNP	ENST00000323030.5	37	c.554G>A	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	37	6.600649	0.97697	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2248	17.947	0.89042	0.0:0.0:1.0:0.0	.	.	.	.	X	185;140	.	ENSP00000319705:W185X	W	+	2	0	DUOXA2	43196219	1.000000	0.71417	0.999000	0.59377	0.583000	0.36354	9.793000	0.99091	2.494000	0.84150	0.655000	0.94253	TGG		0.642	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1		NM_207581	Nonsense_Mutation	19	25	0	0	0	0.010504	0	19	25		
LACTB	114294	broad.mit.edu	37	15	63433729	63433729	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:63433729G>A	ENST00000261893.4	+	6	1441	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	457						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TTGGGATAAAGAGGGTAAATA	0.433																																					Melanoma(85;443 1381 6215 27308 35583)	uc002alw.2		NaN																	0					0						c.(1369-1371)GAG>AAG		lactamase, beta isoform a							76.0	68.0	71.0					15																	63433729		2203	4300	6503	SO:0001583	missense	114294					mitochondrion	hydrolase activity	g.chr15:63433729G>A	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1369G>A	15.37:g.63433729G>A	ENSP00000261893:p.Glu457Lys						p.E457K	NM_032857	NP_116246	P83111	LACTB_HUMAN			6	1408	+			457					P83096	Missense_Mutation	SNP	ENST00000261893.4	37	c.1369G>A	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464480	0.63513	.	.	ENSG00000103642	ENST00000261893	T	0.42900	0.96	5.64	5.64	0.86602	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.043905	0.85682	D	0.000000	T	0.32133	0.0819	L	0.27053	0.805	0.80722	D	1	B	0.20550	0.046	B	0.23716	0.048	T	0.12041	-1.0563	10	0.08179	T	0.78	-17.1008	19.0467	0.93022	0.0:0.0:1.0:0.0	.	457	P83111	LACTB_HUMAN	K	457	ENSP00000261893:E457K	ENSP00000261893:E457K	E	+	1	0	LACTB	61220782	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.498000	0.97972	2.817000	0.96982	0.563000	0.77884	GAG		0.433	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1		NM_032857		30	70	0	0	0	0.007291	0	30	70		
SCAPER	49855	broad.mit.edu	37	15	76958034	76958034	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:76958034T>A	ENST00000563290.1	-	21	2700	c.2605A>T	c.(2605-2607)Aaa>Taa	p.K869*	SCAPER_ENST00000324767.7_Nonsense_Mutation_p.K869*|SCAPER_ENST00000538941.2_Nonsense_Mutation_p.K623*			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	869						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCTTTTTTTTTATTTTTTTGC	0.348																																						uc002bby.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2605-2607)AAA>TAA		S-phase cyclin A-associated protein in the ER							57.0	51.0	53.0					15																	76958034		1777	4048	5825	SO:0001587	stop_gained	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76958034T>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2605A>T	15.37:g.76958034T>A	ENSP00000454973:p.Lys869*					SCAPER_uc010bkr.2_Nonsense_Mutation_p.K177*|SCAPER_uc002bbx.2_Nonsense_Mutation_p.K623*|SCAPER_uc002bbz.1_Nonsense_Mutation_p.K740*|SCAPER_uc002bca.1_Nonsense_Mutation_p.K734*	p.K869*	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			20	2664	-			868					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Nonsense_Mutation	SNP	ENST00000563290.1	37	c.2605A>T	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	T	42	9.472615	0.99181	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	.	.	.	5.93	4.78	0.61160	.	0.107147	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2329	0.59953	0.0:0.0:0.1327:0.8673	.	.	.	.	X	869;623;891	.	ENSP00000303560:K891X	K	-	1	0	SCAPER	74745089	0.999000	0.42202	0.984000	0.44739	0.969000	0.65631	2.872000	0.48467	1.035000	0.39972	0.482000	0.46254	AAA		0.348	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		3	2	0	0	0	0.009096	0	3	2		
ZNF710	374655	broad.mit.edu	37	15	90617419	90617419	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:90617419C>T	ENST00000268154.4	+	4	1973	c.1722C>T	c.(1720-1722)ccC>ccT	p.P574P	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	574					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(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCAGCAAGCCCTTCAAGTGCC	0.587																																						uc002bov.1		NaN																	0				central_nervous_system(1)	1						c.(1720-1722)CCC>CCT		zinc finger protein 710							63.0	56.0	58.0					15																	90617419		2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90617419C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1722C>T	15.37:g.90617419C>T							p.P574P	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		4	1845	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		574					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1722C>T	CCDS10358.1																																																																																				0.587	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1		NM_198526		49	29	0	0	0	0.01441	0	49	29		
FES	2242	broad.mit.edu	37	15	91428341	91428341	+	Silent	SNP	C	C	T	rs369727348	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:91428341C>T	ENST00000328850.3	+	2	208	c.66C>T	c.(64-66)gcC>gcT	p.A22A	FES_ENST00000444422.2_Silent_p.A22A|FES_ENST00000394300.3_Silent_p.A22A|FES_ENST00000450438.2_Silent_p.A22A|FES_ENST00000414248.2_Silent_p.A22A|FES_ENST00000394302.1_Silent_p.A22A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	22	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)	p.A22A(1)		lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGGAGGCCGAGCTTCGTC	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		20475	0.002		0.0	False		,,,				2504	0.0					uc002bpv.2		NaN																	1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(64-66)GCC>GCT		feline sarcoma oncogene isoform 1							111.0	120.0	117.0					15																	91428341		2198	4298	6496	SO:0001819	synonymous_variant	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91428341C>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.66C>T	15.37:g.91428341C>T						FES_uc010uqj.1_Silent_p.A22A|FES_uc010uqk.1_Silent_p.A22A|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.A22A|FES_uc002bpx.2_Silent_p.A22A|FES_uc002bpy.2_Silent_p.A22A	p.A22A	NM_002005	NP_001996	P07332	FES_HUMAN	Lung(145;0.229)		2	162	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		22			FCH.|Important for interaction with membranes containing phosphoinositides.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	c.66C>T	CCDS10365.1																																																																																				0.602	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1		NM_002005		78	125	0	0	0	0.01441	0	78	125		
TTC23	64927	broad.mit.edu	37	15	99696485	99696485	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:99696485C>T	ENST00000394132.2	-	12	1828	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	TTC23_ENST00000394130.1_Silent_p.L337L|TTC23_ENST00000394136.1_Silent_p.L337L|TTC23_ENST00000394135.3_Silent_p.L337L|TTC23_ENST00000394129.2_Silent_p.L337L|AC022819.3_ENST00000563495.1_RNA|TTC23_ENST00000558613.1_Silent_p.L337L|TTC23_ENST00000262074.4_Silent_p.L337L|TTC23_ENST00000558663.1_Silent_p.L337L			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	337										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GGGACTCTCTCAGGATCGAGG	0.502																																						uc002bur.2		NaN																	0					0						c.(1009-1011)CTG>CTA		tetratricopeptide repeat domain 23							80.0	80.0	80.0					15																	99696485		2197	4297	6494	SO:0001819	synonymous_variant	64927						binding	g.chr15:99696485C>T		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.1011G>A	15.37:g.99696485C>T						TTC23_uc002bus.2_Silent_p.L337L|TTC23_uc002but.2_Silent_p.L337L|TTC23_uc002buu.2_Silent_p.L337L|TTC23_uc002buv.2_Silent_p.L337L|TTC23_uc002bux.2_Silent_p.L337L|TTC23_uc002buw.2_Silent_p.L337L|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Silent_p.L337L|TTC23_uc010bor.2_Silent_p.L337L|TTC23_uc002buz.2_Silent_p.L337L	p.L337L	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		11	1542	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		337					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Silent	SNP	ENST00000394132.2	37	c.1011G>A	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343379	0.41498	.	.	ENSG00000103852	ENST00000434594	.	.	.	6.07	3.16	0.36331	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49409	-0.8943	4	.	.	.	-1.4419	6.6816	0.23123	0.0:0.6949:0.146:0.159	.	.	.	.	K	73	.	.	E	-	1	0	TTC23	97514008	0.996000	0.38824	0.683000	0.30040	0.931000	0.56810	0.322000	0.19576	0.894000	0.36317	0.655000	0.94253	GAG		0.502	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2		NM_022905		58	36	0	0	0	0.01441	0	58	36		
PCSK6	5046	broad.mit.edu	37	15	101938609	101938609	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:101938609C>T	ENST00000348070.1	-	8	992	c.993G>A	c.(991-993)aaG>aaA	p.K331K	PCSK6_ENST00000331826.7_Splice_Site_p.K166K|PCSK6_ENST00000398181.2_Splice_Site_p.K331K|PCSK6_ENST00000358417.3_Splice_Site_p.K331K|PCSK6_ENST00000344273.2_Splice_Site_p.K331K|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	332	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTACTCACACCTTTTTAATGC	0.557																																						uc002bwy.2		NaN																	0				pancreas(2)	2						c.(994-996)AAG>AAA		paired basic amino acid cleaving system 4							124.0	131.0	129.0					15																	101938609		1958	4182	6140	SO:0001630	splice_region_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101938609C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.993+1G>A	15.37:g.101938609C>T						PCSK6_uc010bpd.2_Silent_p.K202K|PCSK6_uc010bpe.2_Silent_p.K332K|PCSK6_uc002bxa.2_Silent_p.K332K|PCSK6_uc002bxb.2_Silent_p.K332K|PCSK6_uc002bxc.1_Silent_p.K332K|PCSK6_uc002bxd.1_Silent_p.K332K|PCSK6_uc002bxe.2_Silent_p.K332K|PCSK6_uc002bxg.1_Silent_p.K332K	p.K332K	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	1310	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		332			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.996G>A																																																																																					0.557	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_002570	Silent	57	147	0	0	0	0.01441	0	57	147		
SMG1	23049	broad.mit.edu	37	16	18856889	18856889	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:18856889G>A	ENST00000446231.2	-	39	6493	c.6081C>T	c.(6079-6081)atC>atT	p.I2027I	SMG1_ENST00000389467.3_Silent_p.I2027I			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2027					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GAGCCGCTGTGATACTCCTCA	0.433																																						uc002dfm.2		NaN																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(6079-6081)ATC>ATT		PI-3-kinase-related kinase SMG-1							123.0	114.0	117.0					16																	18856889		1891	4125	6016	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18856889G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6081C>T	16.37:g.18856889G>A						SMG1_uc010bwb.2_Silent_p.I1887I|SMG1_uc010bwa.2_Silent_p.I758I|SMG1_uc002dfo.3_Silent_p.I325I	p.I2027I	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			39	6444	-			2027					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.6081C>T	CCDS45430.1																																																																																				0.433	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1		NM_015092		85	54	0	0	0	0.01441	0	85	54		
TNRC6A	27327	broad.mit.edu	37	16	24803020	24803020	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:24803020G>A	ENST00000395799.3	+	6	3186	c.3057G>A	c.(3055-3057)gtG>gtA	p.V1019V	TNRC6A_ENST00000315183.7_Silent_p.V1019V	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1019	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACAAAAATGTGAACATGTGGA	0.468																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(3055-3057)GTG>GTA		trinucleotide repeat containing 6A							59.0	51.0	54.0					16																	24803020		2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24803020G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3057G>A	16.37:g.24803020G>A						TNRC6A_uc010bxs.2_Silent_p.V766V|TNRC6A_uc010vcc.1_Silent_p.V766V|TNRC6A_uc002dmn.2_Silent_p.V766V|TNRC6A_uc002dmo.2_Silent_p.V766V	p.V1019V	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	3171	+			1019			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.3057G>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	9.586	1.124783	0.20959	.	.	ENSG00000090905	ENST00000450465	.	.	.	5.44	4.47	0.54385	.	.	.	.	.	T	0.72606	0.3481	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72839	-0.4171	4	.	.	.	-6.3036	16.568	0.84603	0.0:0.1306:0.8694:0.0	.	.	.	.	K	18	.	.	E	+	1	0	TNRC6A	24710521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.946000	0.49050	1.397000	0.46682	0.655000	0.94253	GAA		0.468	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		11	93	0	0	0	0.010729	0	11	93		
TGFB1I1	7041	broad.mit.edu	37	16	31485480	31485480	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:31485480C>A	ENST00000394863.3	+	5	463	c.333C>A	c.(331-333)atC>atA	p.I111I	TGFB1I1_ENST00000567607.1_Silent_p.I94I|TGFB1I1_ENST00000361773.3_Silent_p.I94I|TGFB1I1_ENST00000394858.2_Silent_p.I94I	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	111	Interaction with PTK2/FAK1. {ECO:0000250}.|Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CAGATGAAATCATGTCTCAGT	0.512																																						uc002ecd.1		NaN																	0					0						c.(331-333)ATC>ATA		transforming growth factor beta 1 induced							87.0	76.0	80.0					16																	31485480		2197	4300	6497	SO:0001819	synonymous_variant	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485480C>A	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.333C>A	16.37:g.31485480C>A						TGFB1I1_uc002ece.1_Silent_p.I94I|TGFB1I1_uc010caq.1_Intron	p.I111I	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN			5	359	+			111			Transcription activation (By similarity).|Interaction with PTK2 (By similarity).|Interaction with PTK2B.		B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	ENST00000394863.3	37	c.333C>A	CCDS42156.1																																																																																				0.512	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3				29	24	1	0	4.74835e-14	0.010818	5.11782e-14	29	24		
AMFR	267	broad.mit.edu	37	16	56436917	56436917	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:56436917C>T	ENST00000290649.5	-	7	1164	c.954G>A	c.(952-954)gtG>gtA	p.V318V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	318					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGTTTCCAACCACACGTAGAT	0.443																																					Pancreas(2;144 323 39528)	uc002eiy.2		NaN																	0				breast(2)	2						c.(952-954)GTG>GTA		autocrine motility factor receptor							178.0	155.0	163.0					16																	56436917		2198	4300	6498	SO:0001819	synonymous_variant	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56436917C>T	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.954G>A	16.37:g.56436917C>T						AMFR_uc002eix.2_Nonsense_Mutation_p.W16*	p.V318V	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN			7	1159	-			318					P26442|Q8IZ70	Silent	SNP	ENST00000290649.5	37	c.954G>A	CCDS10758.1																																																																																				0.443	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2				69	99	0	0	0	0.01441	0	69	99		
CDH8	1006	broad.mit.edu	37	16	61747750	61747750	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:61747750T>C	ENST00000577390.1	-	10	2603	c.1649A>G	c.(1648-1650)aAt>aGt	p.N550S	CDH8_ENST00000299345.6_Missense_Mutation_p.N550S|CDH8_ENST00000577730.1_Missense_Mutation_p.N550S|CDH8_ENST00000580044.1_5'UTR	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	550	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTACCTTCATTTTTCTTGAT	0.308																																						uc002eog.1		NaN																	0				ovary(6)|skin(2)|breast(1)	9						c.(1648-1650)AAT>AGT		cadherin 8, type 2 preproprotein							105.0	105.0	105.0					16																	61747750		2202	4299	6501	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61747750T>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1649A>G	16.37:g.61747750T>C	ENSP00000462701:p.Asn550Ser						p.N550S	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	10	1901	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	550			Extracellular (Potential).|Cadherin 5.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1649A>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348085	0.61183	.	.	ENSG00000150394	ENST00000299345	T	0.58506	0.33	6.07	6.07	0.98685	Cadherin (4);Cadherin-like (1);	0.041547	0.85682	D	0.000000	T	0.71333	0.3327	M	0.62209	1.925	0.80722	D	1	P	0.50272	0.933	P	0.58391	0.838	T	0.73238	-0.4046	10	0.66056	D	0.02	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	550	P55286	CADH8_HUMAN	S	550	ENSP00000299345:N550S	ENSP00000299345:N550S	N	-	2	0	CDH8	60305251	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	7.291000	0.78721	2.326000	0.78906	0.533000	0.62120	AAT		0.308	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3		NM_001796		8	18	0	0	0	0.00308	0	8	18		
ZCCHC14	23174	broad.mit.edu	37	16	87493735	87493735	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:87493735G>A	ENST00000268616.4	-	2	379	c.162C>T	c.(160-162)atC>atT	p.I54I		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	54			I -> V (in dbSNP:rs11648852).				nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTCTTGGAGTGATCTGAGGGA	0.443																																						uc002fjz.1		NaN																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(160-162)ATC>ATT		zinc finger, CCHC domain containing 14							113.0	109.0	111.0					16																	87493735		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87493735G>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.162C>T	16.37:g.87493735G>A						ZCCHC14_uc002fka.1_RNA	p.I54I	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	2	189	-			54					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.162C>T	CCDS10961.1																																																																																				0.443	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1		NM_015144		8	153	0	0	0	0.004482	0	8	153		
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000420246.2_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000574684.1_5'Flank	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	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> 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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	TTCTCTTCCTCTGTGCGCCGG	0.562		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		165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM995136	TP53	M	rs112431538	c.(853-855)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							91.0	78.0	82.0					17																	7577085		2203	4300	6503	SO:0001583	missense	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.chr17:7577085C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K	p.E285K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1047	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	285		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|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	Missense_Mutation	SNP	ENST00000269305.4	37	c.853G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		73	2	0	0	0	0.01441	0	73	2		
KIAA0100	9703	broad.mit.edu	37	17	26958634	26958634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:26958634G>A	ENST00000528896.2	-	23	4236	c.4162C>T	c.(4162-4164)Cag>Tag	p.Q1388*	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q1245*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q1245*|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1388						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACGGTCACCTGACTTAGGTCA	0.527																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(4162-4164)CAG>TAG		hypothetical protein LOC9703 precursor							91.0	65.0	74.0					17																	26958634		2203	4300	6503	SO:0001587	stop_gained	9703					extracellular region		g.chr17:26958634G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4162C>T	17.37:g.26958634G>A	ENSP00000436773:p.Gln1388*						p.Q1388*	NM_014680	NP_055495	Q14667	K0100_HUMAN			23	4261	-	Lung NSC(42;0.00431)		1388					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	ENST00000528896.2	37	c.4162C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	44	10.956898	0.99494	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.81	3.75	0.43078	.	0.171995	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.9117	0.41411	0.0687:0.2653:0.6661:0.0	.	.	.	.	X	1388;1358;1388;1245	.	ENSP00000005905:Q1388X	Q	-	1	0	KIAA0100	23982761	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.495000	0.45337	0.735000	0.32537	0.650000	0.86243	CAG		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		25	83	0	0	0	0.00333	0	25	83		
ATAD5	79915	broad.mit.edu	37	17	29161248	29161248	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:29161248G>C	ENST00000321990.4	+	2	527	c.149G>C	c.(148-150)aGa>aCa	p.R50T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	50					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GGGAAGACTAGAGACAGGGTT	0.368																																						uc002hfs.1		NaN																	0				ovary(3)	3						c.(148-150)AGA>ACA		ATPase family, AAA domain containing 5							84.0	90.0	88.0					17																	29161248		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29161248G>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.149G>C	17.37:g.29161248G>C	ENSP00000313171:p.Arg50Thr					ATAD5_uc002hft.1_5'UTR	p.R50T	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			2	495	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	50					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.149G>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	3.542	-0.093456	0.07053	.	.	ENSG00000176208	ENST00000321990	T	0.07688	3.17	5.76	2.51	0.30379	.	0.291132	0.33180	N	0.005182	T	0.03263	0.0095	N	0.08118	0	0.20563	N	0.999886	B	0.12013	0.005	B	0.15052	0.012	T	0.41910	-0.9482	10	0.20046	T	0.44	.	3.2175	0.06704	0.1291:0.2092:0.4755:0.1862	.	50	Q96QE3	ATAD5_HUMAN	T	50	ENSP00000313171:R50T	ENSP00000313171:R50T	R	+	2	0	ATAD5	26185374	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	0.809000	0.27168	0.751000	0.32900	0.655000	0.94253	AGA		0.368	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2		NM_024857		31	89	0	0	0	0.009535	0	31	89		
MYO1D	4642	broad.mit.edu	37	17	31203816	31203816	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:31203816G>A	ENST00000318217.5	-	1	379	c.75C>T	c.(73-75)ttC>ttT	p.F25F	AC084809.2_ENST00000435733.1_RNA|MYO1D_ENST00000579584.1_Silent_p.F25F|MYO1D_ENST00000583621.1_Silent_p.F25F	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	25	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GGTTGGCCATGAACTCGGGCA	0.721																																						uc002hho.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(73-75)TTC>TTT		myosin ID							26.0	18.0	21.0					17																	31203816		2170	4259	6429	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31203816G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.75C>T	17.37:g.31203816G>A						MYO1D_uc002hhp.1_Silent_p.F25F|MYO1D_uc010wcb.1_Silent_p.F25F	p.F25F	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		1	87	-			25			Myosin head-like.		A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.75C>T	CCDS32615.1																																																																																				0.721	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1				3	3	0	0	0	0.004672	0	3	3		
MPP2	4355	broad.mit.edu	37	17	41957217	41957217	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:41957217G>A	ENST00000461854.1	-	12	1443	c.1358C>T	c.(1357-1359)aCa>aTa	p.T453I	MPP2_ENST00000520305.1_Missense_Mutation_p.T290I|MPP2_ENST00000377184.3_Missense_Mutation_p.T446I|MPP2_ENST00000536246.1_Missense_Mutation_p.T418I|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.T474I|MPP2_ENST00000269095.4_Missense_Mutation_p.T429I|MPP2_ENST00000523501.1_Missense_Mutation_p.T418I			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	453	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GTCAATACGTGTGCCATACAG	0.627											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010wip.1		NaN																	0					0						c.(1420-1422)ACA>ATA		palmitoylated membrane protein 2							177.0	112.0	134.0					17																	41957217		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41957217G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1358C>T	17.37:g.41957217G>A	ENSP00000428286:p.Thr453Ile		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_uc002ien.1_Missense_Mutation_p.T446I|MPP2_uc010wim.1_Missense_Mutation_p.T418I|MPP2_uc002ieo.1_Missense_Mutation_p.T429I|MPP2_uc010win.1_Missense_Mutation_p.T290I|MPP2_uc010wio.1_Missense_Mutation_p.T418I	p.T474I	NM_005374	NP_005365	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	11	1478	-		Breast(137;0.00314)	453			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1421C>T		.	.	.	.	.	.	.	.	.	.	g	16.13	3.036081	0.54896	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	4.83	3.86	0.44501	.	.	.	.	.	T	0.54271	0.1848	M	0.78049	2.395	0.80722	D	1	D;D	0.59767	0.986;0.982	P;P	0.59012	0.85;0.767	T	0.59742	-0.7397	9	0.72032	D	0.01	.	11.4235	0.49996	0.0901:0.0:0.9099:0.0	.	474;446	E7EV80;Q14168-3	.;.	I	446;429;453;290;418;418;474	ENSP00000366389:T446I;ENSP00000269095:T429I;ENSP00000428286:T453I;ENSP00000428136:T290I;ENSP00000430540:T418I;ENSP00000438012:T418I;ENSP00000428182:T474I	ENSP00000269095:T429I	T	-	2	0	MPP2	39312743	1.000000	0.71417	0.760000	0.31359	0.023000	0.10783	9.822000	0.99363	1.159000	0.42565	0.579000	0.79373	ACA		0.627	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2		NM_005374		37	78	0	0	0	0.004289	0	37	78		
COIL	8161	broad.mit.edu	37	17	55027348	55027348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:55027348G>A	ENST00000240316.4	-	2	1289	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	419	2 X 4 AA repeats of S-L-P-A.|4 X 2 AA tandem repeats of R-G.|Required for interaction with SMN.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GGATGCCCTCGTCCTCGACCT	0.478																																						uc002iuu.2		NaN																	0				ovary(1)	1						c.(1255-1257)CGA>TGA		coilin							85.0	89.0	87.0					17																	55027348		2203	4300	6503	SO:0001587	stop_gained	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027348G>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1255C>T	17.37:g.55027348G>A	ENSP00000240316:p.Arg419*						p.R419*	NM_004645	NP_004636	P38432	COIL_HUMAN			2	1286	-	Breast(9;6.15e-08)		419			3-4.|4 X 2 AA tandem repeats of R-G.|2 X 4 AA repeats of S-L-P-A.		B2R931	Nonsense_Mutation	SNP	ENST00000240316.4	37	c.1255C>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814068	0.70912	.	.	ENSG00000121058	ENST00000240316	.	.	.	5.95	3.73	0.42828	.	0.242908	0.39759	N	0.001266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3764	7.7918	0.29125	0.0:0.216:0.4891:0.2949	.	.	.	.	X	419	.	ENSP00000240316:R419X	R	-	1	2	COIL	52382347	0.949000	0.32298	0.995000	0.50966	0.195000	0.23768	2.932000	0.48940	2.817000	0.96982	0.563000	0.77884	CGA		0.478	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1				54	111	0	0	0	0.01441	0	54	111		
ABCA6	23460	broad.mit.edu	37	17	67075206	67075206	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:67075206C>G	ENST00000284425.2	-	39	4936	c.4762G>C	c.(4762-4764)Gag>Cag	p.E1588Q	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1588					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTAGAAAGCTCTAAGAATACC	0.353																																						uc002jhw.1		NaN																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(4762-4764)GAG>CAG		ATP-binding cassette, sub-family A, member 6							86.0	88.0	87.0					17																	67075206		2202	4300	6502	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67075206C>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4762G>C	17.37:g.67075206C>G	ENSP00000284425:p.Glu1588Gln						p.E1588Q	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			39	4937	-	Breast(10;5.65e-12)		1588					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4762G>C	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977360	0.74360	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.82893	-1.66	4.51	4.51	0.55191	.	0.000000	0.43110	D	0.000606	D	0.91740	0.7388	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93042	0.6458	10	0.87932	D	0	.	15.084	0.72135	0.0:1.0:0.0:0.0	.	1588	Q8N139	ABCA6_HUMAN	Q	1588;448	ENSP00000284425:E1588Q	ENSP00000284425:E1588Q	E	-	1	0	ABCA6	64586801	0.977000	0.34250	0.605000	0.28930	0.925000	0.55904	3.564000	0.53791	2.511000	0.84671	0.591000	0.81541	GAG		0.353	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1		NM_080284		22	26	0	0	0	0.010504	0	22	26		
TBC1D16	125058	broad.mit.edu	37	17	77922709	77922709	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:77922709G>T	ENST00000310924.2	-	8	1618	c.1503C>A	c.(1501-1503)ttC>ttA	p.F501L	TBC1D16_ENST00000570373.1_Missense_Mutation_p.F140L|TBC1D16_ENST00000572862.1_Missense_Mutation_p.F139L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.F139L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.F126L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	501	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCCCCCGGAAGAACTGGTTGT	0.572																																					Ovarian(14;397 562 4850 31922 49378)	uc002jxj.2		NaN																	0					0						c.(1501-1503)TTC>TTA		TBC1 domain family, member 16							228.0	181.0	197.0					17																	77922709		2203	4300	6503	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77922709G>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1503C>A	17.37:g.77922709G>T	ENSP00000309794:p.Phe501Leu					TBC1D16_uc002jxh.2_Missense_Mutation_p.F139L|TBC1D16_uc002jxi.2_Missense_Mutation_p.F126L|TBC1D16_uc002jxk.1_Missense_Mutation_p.F139L	p.F501L	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		8	1619	-	all_neural(118;0.167)		501			Rab-GAP TBC.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.1503C>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020154	0.75275	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.04194	3.68;3.68	5.18	5.18	0.71444	Rab-GAP/TBC domain (4);	0.101080	0.64402	D	0.000002	T	0.07683	0.0193	L	0.35793	1.09	0.80722	D	1	B;B;B;B	0.17465	0.022;0.003;0.003;0.016	B;B;B;B	0.28784	0.046;0.03;0.03;0.094	T	0.25779	-1.0122	10	0.72032	D	0.01	-37.6483	18.692	0.91586	0.0:0.0:1.0:0.0	.	161;501;501;139	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	L	139;501	ENSP00000341517:F139L;ENSP00000309794:F501L	ENSP00000309794:F501L	F	-	3	2	TBC1D16	75537304	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.295000	0.65692	2.392000	0.81423	0.655000	0.94253	TTC		0.572	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1		NM_019020		102	148	1	0	4.24508e-63	0.01441	4.96144e-63	102	148		
PPP4R1	9989	broad.mit.edu	37	18	9553378	9553378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:9553378G>A	ENST00000400556.3	-	16	2306	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.Q728*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	745					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						AAAAACTCCTGAAGTTGATAA	0.328																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1		NaN																	0				skin(1)	1						c.(2233-2235)CAG>TAG		protein phosphatase 4, regulatory subunit 1							74.0	68.0	70.0					18																	9553378		1802	4073	5875	SO:0001587	stop_gained	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9553378G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2233C>T	18.37:g.9553378G>A	ENSP00000383402:p.Gln745*					PPP4R1_uc002kof.2_Nonsense_Mutation_p.Q162*|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.Q591*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.Q728*	p.Q745*	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			16	2351	-			745					Q99774|Q9UNQ7	Nonsense_Mutation	SNP	ENST00000400556.3	37	c.2233C>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	42	9.282313	0.99123	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	.	.	.	5.38	5.38	0.77491	.	0.067033	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.6335	19.1356	0.93426	0.0:0.0:1.0:0.0	.	.	.	.	X	745;728	.	.	Q	-	1	0	PPP4R1	9543378	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.121000	0.94375	2.527000	0.85204	0.655000	0.94253	CAG		0.328	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1		NM_005134		30	37	0	0	0	0.012213	0	30	37		
PSMA8	143471	broad.mit.edu	37	18	23731808	23731808	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:23731808G>C	ENST00000308268.6	+	3	323	c.234G>C	c.(232-234)ttG>ttC	p.L78F	PSMA8_ENST00000343848.6_Intron|PSMA8_ENST00000415576.2_Intron	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	78					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)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GTGAAGTTTTGACAATTTTTA	0.358																																						uc002kvq.2		NaN																	0				skin(1)	1						c.(232-234)TTG>TTC		proteasome alpha 8 subunit isoform 1							86.0	86.0	86.0					18																	23731808		2203	4300	6503	SO:0001583	missense	143471				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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23731808G>C	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.234G>C	18.37:g.23731808G>C	ENSP00000311121:p.Leu78Phe					PSMA8_uc002kvo.2_Intron|PSMA8_uc002kvp.2_Intron|PSMA8_uc002kvr.2_Intron	p.L78F	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		3	348	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		78					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	ENST00000308268.6	37	c.234G>C	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	G	7.447	0.641883	0.14451	.	.	ENSG00000154611	ENST00000308268	T	0.33438	1.41	5.04	-2.53	0.06326	.	0.724083	0.12016	N	0.507454	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.20184	0.028	T	0.20338	-1.0278	10	0.46703	T	0.11	2.4893	6.8545	0.24032	0.1158:0.0:0.622:0.2622	.	78	Q8TAA3	PSA7L_HUMAN	F	78	ENSP00000311121:L78F	ENSP00000311121:L78F	L	+	3	2	PSMA8	21985806	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.788000	0.04614	-0.626000	0.05596	-0.181000	0.13052	TTG		0.358	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1		NM_144662		77	28	0	0	0	0.01441	0	77	28		
ELP2	55250	broad.mit.edu	37	18	33744590	33744590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:33744590G>A	ENST00000358232.6	+	18	1977	c.1914G>A	c.(1912-1914)tgG>tgA	p.W638*	ELP2_ENST00000351393.6_Nonsense_Mutation_p.W612*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.W568*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.W703*|ELP2_ENST00000350494.6_Nonsense_Mutation_p.W633*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.W568*|ELP2_ENST00000542050.1_3'UTR	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	638					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ATCGAACCTGGTCATTGTGGA	0.398																																						uc002kzk.1		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(1912-1914)TGG>TGA		elongator protein 2							80.0	73.0	76.0					18																	33744590		2203	4300	6503	SO:0001587	stop_gained	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33744590G>A	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1914G>A	18.37:g.33744590G>A	ENSP00000350967:p.Trp638*					ELP2_uc010xcg.1_Nonsense_Mutation_p.W703*|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Nonsense_Mutation_p.W612*|ELP2_uc010xch.1_Nonsense_Mutation_p.W633*|ELP2_uc002kzn.1_Nonsense_Mutation_p.W568*|ELP2_uc002kzo.1_Nonsense_Mutation_p.W568*	p.W638*	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			18	1924	+			638			WD 11.		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Nonsense_Mutation	SNP	ENST00000358232.6	37	c.1914G>A	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	37	6.432167	0.97564	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	5.79	5.79	0.91817	.	0.109632	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-7.1843	17.5309	0.87814	0.0:0.0:1.0:0.0	.	.	.	.	X	638;612;703;568;633;568	.	ENSP00000316051:W633X	W	+	3	0	ELP2	31998588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.750000	0.98875	2.734000	0.93682	0.655000	0.94253	TGG		0.398	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2		NM_018255		29	32	0	0	0	0.008361	0	29	32		
POLI	11201	broad.mit.edu	37	18	51804150	51804150	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:51804150G>C	ENST00000579534.1	+	4	627	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	POLI_ENST00000406285.3_Missense_Mutation_p.E162Q|POLI_ENST00000217800.5_Missense_Mutation_p.E36Q|POLI_ENST00000579434.1_Missense_Mutation_p.E59Q	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	162	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGAAATGGTTGAGAAGAGACT	0.373								DNA polymerases (catalytic subunits)																														uc002lfj.3		NaN																	0				ovary(2)|kidney(1)	3						c.(484-486)GAG>CAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase iota							103.0	102.0	102.0					18																	51804150		2203	4300	6503	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51804150G>C		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.484G>C	18.37:g.51804150G>C	ENSP00000462664:p.Glu162Gln					POLI_uc010xds.1_Missense_Mutation_p.E162Q|POLI_uc002lfk.3_Missense_Mutation_p.E59Q|POLI_uc002lfl.1_Missense_Mutation_p.E94Q	p.E162Q	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	4	552	+			162			UmuC.		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.484G>C	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863725	0.51482	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.78126	-1.15	5.51	5.51	0.81932	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.053155	0.64402	D	0.000001	T	0.79724	0.4495	N	0.21508	0.67	0.52501	D	0.999959	P;D	0.53462	0.925;0.96	P;P	0.60682	0.878;0.68	T	0.79308	-0.1857	10	0.39692	T	0.17	-8.8226	18.1896	0.89803	0.0:0.0:1.0:0.0	.	161;162	B7Z780;Q9UNA4	.;POLI_HUMAN	Q	162	ENSP00000385196:E162Q	ENSP00000217800:E162Q	E	+	1	0	POLI	50058148	1.000000	0.71417	0.964000	0.40570	0.973000	0.67179	5.538000	0.67193	2.615000	0.88500	0.591000	0.81541	GAG		0.373	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3		NM_007195		14	17	0	0	0	0.00245	0	14	17		
ZNF532	55205	broad.mit.edu	37	18	56601746	56601746	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:56601746C>A	ENST00000336078.4	+	5	3204	c.2428C>A	c.(2428-2430)Ccc>Acc	p.P810T	ZNF532_ENST00000591083.1_Missense_Mutation_p.P810T|ZNF532_ENST00000591230.1_Missense_Mutation_p.P810T|ZNF532_ENST00000589288.1_Missense_Mutation_p.P810T|ZNF532_ENST00000591808.1_Missense_Mutation_p.P810T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	810					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCACAAATCTCCCTACACCTG	0.522																																						uc002lho.2		NaN																	0				breast(1)|skin(1)	2						c.(2428-2430)CCC>ACC		zinc finger protein 532							163.0	138.0	146.0					18																	56601746		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56601746C>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2428C>A	18.37:g.56601746C>A	ENSP00000338217:p.Pro810Thr					ZNF532_uc002lhp.2_Missense_Mutation_p.P808T|ZNF532_uc010xeg.1_Missense_Mutation_p.P808T|ZNF532_uc002lhr.2_Missense_Mutation_p.P808T|ZNF532_uc002lhs.2_Missense_Mutation_p.P808T	p.P810T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			5	2975	+			810					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.2428C>A	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712876	0.68730	.	.	ENSG00000074657	ENST00000336078	T	0.34859	1.34	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.90252	3.1	0.58432	D	0.999997	P	0.52577	0.954	P	0.46452	0.517	T	0.69091	-0.5237	10	0.87932	D	0	0.1447	18.9741	0.92728	0.0:1.0:0.0:0.0	.	810	Q9HCE3	ZN532_HUMAN	T	810	ENSP00000338217:P810T	ENSP00000338217:P810T	P	+	1	0	ZNF532	54752726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.644000	0.89710	0.561000	0.74099	CCC		0.522	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1		NM_018181		59	91	1	0	1.4709e-25	0.01441	1.64706e-25	59	91		
ZNF516	9658	broad.mit.edu	37	18	74154543	74154543	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:74154543G>T	ENST00000443185.2	-	3	785	c.468C>A	c.(466-468)agC>agA	p.S156R	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCCCTTCTTGCTGCTCCGCA	0.701																																						uc010dqx.1		NaN																	0				ovary(1)	1						c.(466-468)AGC>AGA		zinc finger protein 516							9.0	11.0	10.0					18																	74154543		1871	4032	5903	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154543G>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.468C>A	18.37:g.74154543G>T	ENSP00000394757:p.Ser156Arg					ZNF516_uc002lme.2_RNA	p.S156R	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	703	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	156						Missense_Mutation	SNP	ENST00000443185.2	37	c.468C>A		.	.	.	.	.	.	.	.	.	.	G	12.17	1.857501	0.32791	.	.	ENSG00000101493	ENST00000443185	T	0.11495	2.77	4.06	0.186	0.15105	.	2.378200	0.02065	N	0.051044	T	0.16342	0.0393	.	.	.	0.31932	N	0.612116	D	0.57899	0.981	P	0.52758	0.708	T	0.13710	-1.0499	9	0.39692	T	0.17	-7.7287	3.6818	0.08313	0.1503:0.131:0.5833:0.1354	.	156	Q92618	ZN516_HUMAN	R	156	ENSP00000394757:S156R	ENSP00000394757:S156R	S	-	3	2	ZNF516	72283531	1.000000	0.71417	0.801000	0.32222	0.728000	0.41692	1.704000	0.37857	-0.084000	0.12595	-0.373000	0.07131	AGC		0.701	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding			NM_014643		4	4	1	0	0.00024832	0.009096	0.000255142	4	4		
NFATC1	4772	broad.mit.edu	37	18	77171093	77171093	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:77171093G>T	ENST00000427363.2	+	2	818	c.818G>T	c.(817-819)cGg>cTg	p.R273L	NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.R273L|NFATC1_ENST00000542384.1_Missense_Mutation_p.R273L|NFATC1_ENST00000318065.5_Missense_Mutation_p.R260L|NFATC1_ENST00000586434.1_Missense_Mutation_p.R260L|NFATC1_ENST00000587635.1_Missense_Mutation_p.R273L|NFATC1_ENST00000592223.1_Missense_Mutation_p.R260L|NFATC1_ENST00000591814.1_Missense_Mutation_p.R273L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.R260L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	273	3 X SP repeats.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CTCAACGGCCGGCAGCCGCCC	0.706																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(817-819)CGG>CTG		nuclear factor of activated T-cells, cytosolic							18.0	19.0	18.0					18																	77171093		2155	4227	6382	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77171093G>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.818G>T	18.37:g.77171093G>T	ENSP00000389377:p.Arg273Leu					NFATC1_uc002lnc.1_Missense_Mutation_p.R273L|NFATC1_uc010xff.1_Missense_Mutation_p.R273L|NFATC1_uc002lnd.2_Missense_Mutation_p.R273L|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.R273L|NFATC1_uc010xfi.1_Missense_Mutation_p.R260L|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.R260L|NFATC1_uc002lng.2_Missense_Mutation_p.R260L|NFATC1_uc010xfk.1_Missense_Mutation_p.R260L	p.R273L	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1271	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	273			3 X SP repeats.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.818G>T		.	.	.	.	.	.	.	.	.	.	G	17.28	3.349482	0.61183	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.75821	-0.97;-0.97;-0.97	5.05	5.05	0.67936	.	0.442389	0.23452	N	0.048024	T	0.79851	0.4517	L	0.50919	1.6	0.80722	D	1	D;D;D;D;D;P;D	0.61080	0.989;0.989;0.989;0.977;0.977;0.889;0.989	P;P;P;B;B;B;P	0.55824	0.785;0.785;0.785;0.44;0.44;0.407;0.785	T	0.77720	-0.2482	10	0.34782	T	0.22	-45.1811	18.6037	0.91259	0.0:0.0:1.0:0.0	.	260;260;273;273;273;260;273	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	L	273;273;273;260;260;237	ENSP00000253506:R273L;ENSP00000442435:R273L;ENSP00000327850:R260L	ENSP00000253506:R273L	R	+	2	0	NFATC1	75272081	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.489000	0.60309	2.626000	0.88956	0.655000	0.94253	CGG		0.706	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1		NM_172390		13	40	1	0	2.27111e-07	0.013537	2.37926e-07	13	40		
SEMA6B	10501	broad.mit.edu	37	19	4550226	4550226	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:4550226C>T	ENST00000586582.1	-	12	1490	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N	SEMA6B_ENST00000586965.1_Missense_Mutation_p.D394N|SEMA6B_ENST00000301293.3_Missense_Mutation_p.D394N	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	394	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAGGATGTCATCCGGCAAG	0.642																																						uc010duc.1		NaN																	0				skin(1)	1						c.(1180-1182)GAC>AAC		semaphorin 6B precursor							81.0	65.0	71.0					19																	4550226		2203	4300	6503	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4550226C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1180G>A	19.37:g.4550226C>T	ENSP00000467290:p.Asp394Asn					SEMA6B_uc010dud.2_Missense_Mutation_p.D394N|SEMA6B_uc010xih.1_Missense_Mutation_p.D394N	p.D394N	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1218	-		Hepatocellular(1079;0.137)	394			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1180G>A	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	17.27	3.346678	0.61073	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.23147	1.92	2.6	2.6	0.31112	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.187067	0.44688	U	0.000433	T	0.33527	0.0866	L	0.43598	1.365	0.41888	D	0.990357	B;B	0.31893	0.345;0.212	P;B	0.46685	0.524;0.312	T	0.43475	-0.9389	10	0.87932	D	0	.	12.9003	0.58121	0.0:1.0:0.0:0.0	.	394;394	B4DT36;Q9H3T3	.;SEM6B_HUMAN	N	394	ENSP00000301293:D394N	ENSP00000301292:D394N	D	-	1	0	SEMA6B	4501226	1.000000	0.71417	0.788000	0.31933	0.722000	0.41435	7.337000	0.79256	1.795000	0.52594	0.478000	0.44815	GAC		0.642	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2		NM_032108		37	31	0	0	0	0.007835	0	37	31		
ZNF560	147741	broad.mit.edu	37	19	9578205	9578205	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:9578205G>A	ENST00000301480.4	-	10	1631	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	473					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)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AATAACACCTGAGGATGTACC	0.393																																						uc002mlp.1		NaN																	0				skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1417-1419)TCA>TTA		zinc finger protein 560							216.0	233.0	227.0					19																	9578205		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578205G>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1418C>T	19.37:g.9578205G>A	ENSP00000301480:p.Ser473Leu					ZNF560_uc010dwr.1_Missense_Mutation_p.S367L	p.S473L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	1628	-			473					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1418C>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735369	0.30774	.	.	ENSG00000198028	ENST00000301480	T	0.48836	0.8	1.73	1.73	0.24493	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51432	0.1674	M	0.75264	2.295	0.09310	N	1	D	0.56968	0.978	P	0.47346	0.544	T	0.45411	-0.9263	9	0.56958	D	0.05	.	9.4204	0.38548	0.0:0.0:1.0:0.0	.	473	Q96MR9	ZN560_HUMAN	L	473	ENSP00000301480:S473L	ENSP00000301480:S473L	S	-	2	0	ZNF560	9439205	0.007000	0.16637	0.004000	0.12327	0.003000	0.03518	0.333000	0.19768	1.266000	0.44231	0.467000	0.42956	TCA		0.393	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1		NM_152476		45	181	0	0	0	0.013114	0	45	181		
ICAM5	7087	broad.mit.edu	37	19	10405105	10405105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:10405105C>A	ENST00000221980.4	+	9	2082	c.2019C>A	c.(2017-2019)tgC>tgA	p.C673*		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	673	Ig-like C2-type 8.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AATCTACCTGCCCAAGTCACC	0.692																																						uc002mnu.3		NaN																	0				breast(3)	3						c.(2017-2019)TGC>TGA		intercellular adhesion molecule 5 precursor							35.0	40.0	39.0					19																	10405105		2203	4300	6503	SO:0001587	stop_gained	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10405105C>A	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2019C>A	19.37:g.10405105C>A	ENSP00000221980:p.Cys673*					ICAM5_uc002mnv.3_Nonsense_Mutation_p.C548*	p.C673*	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		9	2084	+			673			Extracellular (Potential).|Ig-like C2-type 8.		Q9Y6F3	Nonsense_Mutation	SNP	ENST00000221980.4	37	c.2019C>A	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014229	0.93404	.	.	ENSG00000105376	ENST00000221980	.	.	.	5.15	0.314	0.15847	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-21.5062	4.1876	0.10405	0.0:0.5409:0.1714:0.2877	.	.	.	.	X	673	.	ENSP00000221980:C673X	C	+	3	2	ICAM5	10266105	0.146000	0.22672	0.991000	0.47740	0.247000	0.25773	-0.401000	0.07232	0.290000	0.22444	0.542000	0.68232	TGC		0.692	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1		NM_003259		61	34	1	0	2.14255e-21	0.01441	2.37075e-21	61	34		
SMARCA4	6597	broad.mit.edu	37	19	11152120	11152120	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:11152120G>C	ENST00000429416.3	+	31	4589	c.4308G>C	c.(4306-4308)gaG>gaC	p.E1436D	SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1406D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1406D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1406D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1406D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1403D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1403D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1436D|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E1468D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1436					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGGACGACGAGAGCAAGAAGC	0.617			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)		lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(4306-4308)GAG>GAC		SWI/SNF-related matrix-associated							46.0	49.0	48.0					19																	11152120		2202	4300	6502	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11152120G>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4308G>C	19.37:g.11152120G>C	ENSP00000395654:p.Glu1436Asp					SMARCA4_uc010dxp.2_Missense_Mutation_p.E1436D|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1468D|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1403D|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1403D|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1406D|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1406D|SMARCA4_uc002mqh.3_Missense_Mutation_p.E526D	p.E1436D	NM_003072	NP_003063	P51532	SMCA4_HUMAN			30	4592	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1436					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.4308G>C	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.525|9.525	1.109412|1.109412	0.20714|0.20714	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806|ENST00000538456	T;T;T;T;T;T|D	0.30448|0.82893	1.53;1.53;1.53;1.53;1.53;1.53|-1.66	4.44|4.44	0.675|0.675	0.17952|0.17952	Bromodomain (1);|.	0.256840|0.256840	0.37178|0.37178	N|N	0.002215|0.002215	T|T	0.65512|0.65512	0.2698|0.2698	N|N	0.04508|0.04508	-0.205|-0.205	0.31711|0.31711	N|N	0.639473|0.639473	B;B;B;B;B;B|.	0.20780|.	0.0;0.0;0.0;0.048;0.0;0.0|.	B;B;B;B;B;B|.	0.18263|.	0.001;0.001;0.001;0.021;0.001;0.001|.	T|T	0.67425|0.67425	-0.5674|-0.5674	10|8	0.14656|0.46703	T|T	0.56|0.11	-30.3871|-30.3871	9.5208|9.5208	0.39133|0.39133	0.0:0.3801:0.477:0.1429|0.0:0.3801:0.477:0.1429	.|.	1406;1403;1403;1468;1406;1436|.	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;P51532|.	.;.;.;.;.;SMCA4_HUMAN|.	D|Q	1436;1468;1470;1436;1403;1403;1406;1406|208	ENSP00000395654:E1436D;ENSP00000350720:E1468D;ENSP00000343896:E1436D;ENSP00000392837:E1403D;ENSP00000397783:E1406D;ENSP00000414727:E1406D|ENSP00000443848:E208Q	ENSP00000343896:E1436D|ENSP00000443848:E208Q	E|E	+|+	3|1	2|0	SMARCA4|SMARCA4	11013120|11013120	0.068000|0.068000	0.21057|0.21057	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	-0.820000|-0.820000	0.04457|0.04457	0.458000|0.458000	0.26988|0.26988	0.467000|0.467000	0.42956|0.42956	GAG|GAG		0.617	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		22	11	0	0	0	0.014323	0	22	11		
ZNF653	115950	broad.mit.edu	37	19	11597944	11597944	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:11597944C>T	ENST00000293771.5	-	5	1337	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	401					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(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TCCTTCTCCTCCTTCTTTAGC	0.647																																					Pancreas(83;980 1446 4542 6441 43352)	uc002mrz.1		NaN																	0					0						c.(1201-1203)GAG>AAG		zinc finger protein 653							67.0	76.0	73.0					19																	11597944		2203	4300	6503	SO:0001583	missense	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11597944C>T	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1201G>A	19.37:g.11597944C>T	ENSP00000293771:p.Glu401Lys						p.E401K	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN			5	1254	-			401					Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	c.1201G>A	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452026	0.43531	.	.	ENSG00000161914	ENST00000293771	T	0.10573	2.86	3.95	3.95	0.45737	.	0.394630	0.25388	N	0.031028	T	0.06781	0.0173	N	0.08118	0	0.36640	D	0.876792	P	0.47409	0.895	B	0.41236	0.351	T	0.39542	-0.9609	10	0.62326	D	0.03	-26.1672	13.8971	0.63778	0.0:1.0:0.0:0.0	.	401	Q96CK0	ZN653_HUMAN	K	401	ENSP00000293771:E401K	ENSP00000293771:E401K	E	-	1	0	ZNF653	11458944	0.999000	0.42202	1.000000	0.80357	0.688000	0.40055	3.376000	0.52417	1.936000	0.56123	0.561000	0.74099	GAG		0.647	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2		NM_138783		51	84	0	0	0	0.01441	0	51	84		
ZNF878	729747	broad.mit.edu	37	19	12154731	12154731	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:12154731G>A	ENST00000547628.1	-	4	1622	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Silent_p.L542L|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	495					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)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTTCATGGTAGAGAAAAGAGT	0.393																																						uc002mta.1		NaN																	0					0						c.(1624-1626)CTC>CTT		zinc finger protein 878							63.0	72.0	69.0					19																	12154731		2192	4295	6487	SO:0001819	synonymous_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12154731G>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1485C>T	19.37:g.12154731G>A							p.L542L	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN			5	1626	-			495			C2H2-type 14.			Silent	SNP	ENST00000547628.1	37	c.1626C>T	CCDS45984.2																																																																																				0.393	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1		NM_001080404		21	39	0	0	0	0.010504	0	21	39		
JUNB	3726	broad.mit.edu	37	19	12902839	12902839	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:12902839C>T	ENST00000302754.4	+	1	530	c.254C>T	c.(253-255)tCg>tTg	p.S85L		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	85					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CTCGCCTCTTCGGAGCTGGAA	0.687																																						uc002mvc.2		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(253-255)TCG>TTG		jun B proto-oncogene							12.0	13.0	12.0					19																	12902839		2184	4258	6442	SO:0001583	missense	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12902839C>T	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.254C>T	19.37:g.12902839C>T	ENSP00000303315:p.Ser85Leu					JUNB_uc002mvb.2_RNA	p.S85L	NM_002229	NP_002220	P17275	JUNB_HUMAN			1	530	+			85					Q96GH3	Missense_Mutation	SNP	ENST00000302754.4	37	c.254C>T	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967268	0.53507	.	.	ENSG00000171223	ENST00000302754	T	0.30448	1.53	4.97	4.97	0.65823	Jun-like transcription factor (1);	0.135055	0.49305	U	0.000144	T	0.19725	0.0474	N	0.08118	0	0.39746	D	0.971821	B	0.21821	0.061	B	0.17433	0.018	T	0.09662	-1.0664	10	0.87932	D	0	-4.2011	17.0206	0.86432	0.0:1.0:0.0:0.0	.	85	P17275	JUNB_HUMAN	L	85	ENSP00000303315:S85L	ENSP00000303315:S85L	S	+	2	0	JUNB	12763839	0.992000	0.36948	0.331000	0.25455	0.287000	0.27160	5.864000	0.69575	2.300000	0.77407	0.549000	0.68633	TCG		0.687	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1		NM_002229		4	21	0	0	0	0.000602	0	4	21		
SYCE2	256126	broad.mit.edu	37	19	13015434	13015434	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:13015434A>C	ENST00000293695.7	-	3	196	c.178T>G	c.(178-180)Ttc>Gtc	p.F60V	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	60					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						AGAGAGGAGAAGTAGAGTCCC	0.542																																						uc002mvr.2		NaN																	0					0						c.(178-180)TTC>GTC		synaptonemal complex central element protein 2							171.0	175.0	174.0					19																	13015434		2148	4272	6420	SO:0001583	missense	256126				cell division	central element		g.chr19:13015434A>C	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.178T>G	19.37:g.13015434A>C	ENSP00000293695:p.Phe60Val						p.F60V	NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN			3	193	-			60					B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	c.178T>G	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546670	0.65198	.	.	ENSG00000161860	ENST00000293695	.	.	.	4.45	3.43	0.39272	.	0.330465	0.28312	N	0.015814	T	0.53786	0.1818	L	0.50333	1.59	0.37031	D	0.896709	D	0.59767	0.986	P	0.53593	0.73	T	0.60172	-0.7315	9	0.72032	D	0.01	0.0664	6.4005	0.21636	0.8887:0.0:0.1113:0.0	.	60	Q6PIF2	SYCE2_HUMAN	V	60	.	ENSP00000293695:F60V	F	-	1	0	SYCE2	12876434	1.000000	0.71417	0.923000	0.36655	0.871000	0.50021	2.868000	0.48436	0.747000	0.32809	0.379000	0.24179	TTC		0.542	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1		XM_497609		8	196	0	0	0	0.00308	0	8	196		
TMEM38A	79041	broad.mit.edu	37	19	16790904	16790904	+	Silent	SNP	C	C	T	rs144587502		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:16790904C>T	ENST00000187762.2	+	2	325	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	78						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AGCCACTGATCGATTACTTCA	0.602																																						uc002nes.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(232-234)ATC>ATT		transmembrane protein 38A		C		0,4406		0,0,2203	62.0	50.0	54.0		234	-2.2	0.6	19	dbSNP_134	54	1,8599		0,1,4299	no	coding-synonymous	TMEM38A	NM_024074.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		78/300	16790904	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16790904C>T	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.234C>T	19.37:g.16790904C>T							p.I78I	NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN			2	325	+			78			Cytoplasmic (Potential).		A8K9P9	Silent	SNP	ENST00000187762.2	37	c.234C>T	CCDS12349.1																																																																																				0.602	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1		NM_024074		45	74	0	0	0	0.013114	0	45	74		
PLVAP	83483	broad.mit.edu	37	19	17487748	17487748	+	Missense_Mutation	SNP	C	C	T	rs199706929		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17487748C>T	ENST00000252590.4	-	1	411	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	117					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGCACTGGCGGAAGCTGGC	0.617																																						uc002ngk.1		NaN																	0					0						c.(349-351)CGC>CAC		plasmalemma vesicle associated protein							65.0	59.0	61.0					19																	17487748		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17487748C>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.350G>A	19.37:g.17487748C>T	ENSP00000252590:p.Arg117His						p.R117H	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			1	400	-			117			Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.350G>A	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150121	0.37923	.	.	ENSG00000130300	ENST00000252590	.	.	.	4.66	2.51	0.30379	.	1.002650	0.08039	N	0.994866	T	0.46464	0.1394	L	0.27053	0.805	0.28456	N	0.916113	D	0.76494	0.999	D	0.64687	0.928	T	0.35574	-0.9783	9	0.48119	T	0.1	-22.7295	6.6572	0.22994	0.0:0.7848:0.0:0.2152	.	117	Q9BX97	PLVAP_HUMAN	H	117	.	ENSP00000252590:R117H	R	-	2	0	PLVAP	17348748	0.971000	0.33674	1.000000	0.80357	0.006000	0.05464	0.258000	0.18387	1.099000	0.41499	-0.258000	0.10820	CGC		0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1		NM_031310		19	37	0	0	0	0.010504	0	19	37		
SLC27A1	376497	broad.mit.edu	37	19	17611152	17611152	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17611152C>A	ENST00000252595.7	+	8	1369	c.1272C>A	c.(1270-1272)gtC>gtA	p.V424V	SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.V424V|SLC27A1_ENST00000598424.1_Silent_p.V245V	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	424	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGTGAAGGTCAATGAGGACA	0.662																																						uc002ngu.1		NaN																	0					0						c.(1270-1272)GTC>GTA		solute carrier family 27, member 1							56.0	54.0	55.0					19																	17611152		2203	4300	6503	SO:0001819	synonymous_variant	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17611152C>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1272C>A	19.37:g.17611152C>A						SLC27A1_uc010xpp.1_Silent_p.V245V|SLC27A1_uc002ngv.1_Silent_p.V26V	p.V424V	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN			8	1322	+			424			Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).		A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	c.1272C>A	CCDS32953.1																																																																																				0.662	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1		NM_198580		29	127	1	0	4.22769e-11	0.00632	4.4792e-11	29	127		
SLC27A1	376497	broad.mit.edu	37	19	17611371	17611371	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17611371C>G	ENST00000252595.7	+	9	1498	c.1401C>G	c.(1399-1401)gtC>gtG	p.V467V	SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.V467V|SLC27A1_ENST00000598424.1_Silent_p.V288V	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	467	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ATGGCTATGTCAGCGAGAGCG	0.642																																						uc002ngu.1		NaN																	0					0						c.(1399-1401)GTC>GTG		solute carrier family 27, member 1							37.0	36.0	36.0					19																	17611371		2203	4300	6503	SO:0001819	synonymous_variant	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17611371C>G	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1401C>G	19.37:g.17611371C>G						SLC27A1_uc010xpp.1_Silent_p.V288V|SLC27A1_uc002ngv.1_Silent_p.V69V	p.V467V	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN			9	1451	+			467			Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).		A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	c.1401C>G	CCDS32953.1																																																																																				0.642	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1		NM_198580		16	37	0	0	0	0.003163	0	16	37		
TSHZ3	57616	broad.mit.edu	37	19	31768032	31768032	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:31768032C>T	ENST00000240587.4	-	2	2994	c.2667G>A	c.(2665-2667)caG>caA	p.Q889Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	889					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCTTCCTCTTCTGGGCGGGCG	0.612																																						uc002nsy.3		NaN																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2665-2667)CAG>CAA		zinc finger protein 537							31.0	31.0	31.0					19																	31768032		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768032C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2667G>A	19.37:g.31768032C>T							p.Q889Q	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2732	-	Esophageal squamous(110;0.226)		889					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2667G>A	CCDS12421.2																																																																																				0.612	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856		51	50	0	0	0	0.01441	0	51	50		
GPI	2821	broad.mit.edu	37	19	34884660	34884660	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:34884660C>T	ENST00000356487.5	+	11	1134	c.893C>T	c.(892-894)tCg>tTg	p.S298L	GPI_ENST00000415930.3_Missense_Mutation_p.S309L|GPI_ENST00000586425.1_Missense_Mutation_p.S298L	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	298					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CAGCTGCTCTCGGGGGCTCAC	0.602																																						uc002nvg.1		NaN																	0				ovary(1)|kidney(1)	2						c.(892-894)TCG>TTG		glucose phosphate isomerase							121.0	115.0	117.0					19																	34884660		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884660C>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.893C>T	19.37:g.34884660C>T	ENSP00000348877:p.Ser298Leu					GPI_uc002nvf.2_Missense_Mutation_p.S337L|GPI_uc010xrv.1_Missense_Mutation_p.S309L|GPI_uc010xrw.1_Missense_Mutation_p.S270L|GPI_uc010edl.1_Missense_Mutation_p.S298L|GPI_uc002nvi.1_5'UTR	p.S298L	NM_000175	NP_000166	P06744	G6PI_HUMAN			11	996	+	Esophageal squamous(110;0.162)		298					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.893C>T	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767361	0.49574	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.93859	-3.3;-3.3	5.25	5.25	0.73442	.	0.124627	0.56097	D	0.000035	D	0.92211	0.7530	L	0.56769	1.78	0.54753	D	0.99998	B;B;B;B	0.30021	0.029;0.123;0.029;0.265	B;B;B;B	0.28916	0.035;0.059;0.035;0.096	D	0.91300	0.5066	10	0.72032	D	0.01	-19.3548	18.8426	0.92190	0.0:1.0:0.0:0.0	.	270;309;271;298	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	L	309;298	ENSP00000405573:S309L;ENSP00000348877:S298L	ENSP00000348877:S298L	S	+	2	0	GPI	39576500	0.796000	0.28864	0.975000	0.42487	0.061000	0.15899	3.629000	0.54266	2.464000	0.83262	0.555000	0.69702	TCG		0.602	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3				74	92	0	0	0	0.01441	0	74	92		
PROSER3	148137	broad.mit.edu	37	19	36256029	36256029	+	Missense_Mutation	SNP	G	G	A	rs370565442		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:36256029G>A	ENST00000544099.1	+	7	784	c.721G>A	c.(721-723)Gag>Aag	p.E241K	C19orf55_ENST00000396908.4_Missense_Mutation_p.E241K			Q2NL68	PRSR3_HUMAN		241	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCCTTCTCGGAGACCTTCAT	0.622																																						uc002obq.1		NaN																	0				ovary(1)	1						c.(721-723)GAG>AAG		hypothetical protein LOC148137		G	LYS/GLU	0,4224		0,0,2112	102.0	104.0	103.0		721	-3.9	0.0	19		103	1,8487		0,1,4243	no	missense	C19orf55	NM_001039887.2	56	0,1,6355	AA,AG,GG		0.0118,0.0,0.0079	benign	241/481	36256029	1,12711	2112	4244	6356	SO:0001583	missense	148137							g.chr19:36256029G>A																												ENST00000544099.1:c.721G>A	19.37:g.36256029G>A	ENSP00000467267:p.Glu241Lys						p.E241K	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	794	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		241			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37	c.721G>A		.	.	.	.	.	.	.	.	.	.	G	4.837	0.155679	0.09236	0.0	1.18E-4	ENSG00000167595	ENST00000396908;ENST00000301165	T;T	0.43294	0.95;0.95	4.42	-3.9	0.04181	.	0.876722	0.09447	N	0.801020	T	0.27832	0.0685	N	0.22421	0.69	0.09310	N	1	B	0.18310	0.027	B	0.20955	0.032	T	0.26292	-1.0107	10	0.49607	T	0.09	0.321	12.0214	0.53346	0.308:0.0:0.692:0.0	.	241	E5RFB9	.	K	241;240	ENSP00000380116:E241K;ENSP00000301165:E240K	ENSP00000301165:E240K	E	+	1	0	C19orf55	40947869	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.441000	0.06879	-0.798000	0.04444	-0.261000	0.10672	GAG		0.622	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2				16	222	0	0	0	0.004007	0	16	222		
RYR1	6261	broad.mit.edu	37	19	38945908	38945908	+	Missense_Mutation	SNP	C	C	T	rs199826952		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:38945908C>T	ENST00000359596.3	+	14	1474	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	RYR1_ENST00000355481.4_Missense_Mutation_p.R492C|RYR1_ENST00000360985.3_Missense_Mutation_p.R492C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	492					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTGCATAGACCGCCTAAATGT	0.507																																						uc002oit.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(1474-1476)CGC>TGC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						167.0	147.0	153.0					19																	38945908		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38945908C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1474C>T	19.37:g.38945908C>T	ENSP00000352608:p.Arg492Cys					RYR1_uc002oiu.2_Missense_Mutation_p.R492C	p.R492C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		14	1604	+	all_cancers(60;7.91e-06)		492			Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.1474C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222334	0.58560	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95588	-3.75;-3.75;-3.75	3.97	3.97	0.46021	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000005	D	0.97623	0.9221	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98572	1.0646	10	0.87932	D	0	.	15.8324	0.78764	0.0:1.0:0.0:0.0	.	492;492	P21817-2;P21817	.;RYR1_HUMAN	C	492	ENSP00000352608:R492C;ENSP00000347667:R492C;ENSP00000354254:R492C	ENSP00000347667:R492C	R	+	1	0	RYR1	43637748	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.746000	0.68681	2.044000	0.60594	0.407000	0.27541	CGC		0.507	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				65	105	0	0	0	0.01441	0	65	105		
PRX	57716	broad.mit.edu	37	19	40901226	40901226	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:40901226C>T	ENST00000324001.7	-	7	3303	c.3033G>A	c.(3031-3033)ggG>ggA	p.G1011G	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1011					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGGTCGGCCCCTGCCACCT	0.647																																						uc002onr.2		NaN																	0				ovary(2)	2						c.(3031-3033)GGG>GGA		periaxin isoform 2							37.0	42.0	40.0					19																	40901226		2203	4300	6503	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901226C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3033G>A	19.37:g.40901226C>T						PRX_uc002onq.2_Silent_p.G872G|PRX_uc002ons.2_3'UTR	p.G1011G	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3302	-			1011					Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.3033G>A	CCDS33028.1																																																																																				0.647	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		72	80	0	0	0	0.01441	0	72	80		
RTN2	6253	broad.mit.edu	37	19	45996515	45996515	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:45996515G>T	ENST00000245923.4	-	5	1171	c.936C>A	c.(934-936)ccC>ccA	p.P312P	RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000590526.1_Silent_p.P38P	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	312					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CAGGAGTAGGGGGGGTGGGGC	0.562																																						uc002pcb.2		NaN																	0				ovary(3)	3						c.(934-936)CCC>CCA		reticulon 2 isoform A																																				SO:0001819	synonymous_variant	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45996515G>T	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.936C>A	19.37:g.45996515G>T						RTN2_uc002pcc.2_Intron|RTN2_uc002pcd.2_Intron	p.P312P	NM_005619	NP_005610	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	5	1164	-		Ovarian(192;0.051)|all_neural(266;0.112)	312					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	c.936C>A	CCDS12665.1																																																																																				0.562	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1		NM_005619		28	234	1	0	5.61819e-17	0.005443	6.12595e-17	28	234		
GRIN2D	2906	broad.mit.edu	37	19	48919324	48919324	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:48919324C>T	ENST00000263269.3	+	7	1735	c.1647C>T	c.(1645-1647)atC>atT	p.I549I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	549					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTCCGAGATCGTGGACTTCT	0.662																																						uc002pjc.3		NaN																	0				ovary(3)|breast(3)	6						c.(1645-1647)ATC>ATT		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						111.0	94.0	99.0					19																	48919324		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48919324C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1647C>T	19.37:g.48919324C>T							p.I549I	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	7	1735	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	549			Extracellular (Potential).			Silent	SNP	ENST00000263269.3	37	c.1647C>T	CCDS12719.1																																																																																				0.662	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1				36	118	0	0	0	0.004289	0	36	118		
PPP1R15A	23645	broad.mit.edu	37	19	49377076	49377076	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49377076G>A	ENST00000200453.5	+	2	855	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	196	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.E196K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGAGGACGATGAAGAAGCTGT	0.532																																						uc002pky.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(586-588)GAA>AAA		protein phosphatase 1, regulatory subunit 15A							142.0	153.0	149.0					19																	49377076		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377076G>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.586G>A	19.37:g.49377076G>A	ENSP00000200453:p.Glu196Lys						p.E196K	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	855	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	196			Glu-rich.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.586G>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	9.837	1.190114	0.21954	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.04119	3.7	4.07	1.87	0.25490	.	1.192680	0.06170	N	0.677513	T	0.03695	0.0105	L	0.29908	0.895	0.09310	N	1	B	0.24768	0.111	B	0.19666	0.026	T	0.43212	-0.9405	10	0.06365	T	0.9	-0.0455	6.705	0.23246	0.2193:0.0:0.7807:0.0	.	196	O75807	PR15A_HUMAN	K	196;36;154	ENSP00000200453:E196K	ENSP00000200453:E196K	E	+	1	0	PPP1R15A	54068888	0.008000	0.16893	0.000000	0.03702	0.003000	0.03518	0.918000	0.28678	0.652000	0.30806	0.511000	0.50034	GAA		0.532	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1		NM_014330		7	129	0	0	0	0.004482	0	7	129		
NTF4	4909	broad.mit.edu	37	19	49564969	49564969	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49564969C>T	ENST00000593537.1	-	1	285	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000451356.2_Intron|CGB7_ENST00000356213.4_5'Flank|CGB7_ENST00000597853.1_5'Flank|NTF4_ENST00000301411.3_Missense_Mutation_p.V96M|NTF4_ENST00000594938.1_5'Flank|CTB-60B18.12_ENST00000597865.1_RNA			P34130	NTF4_HUMAN	neurotrophin 4	96					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCATCGCACACAGCCAGCTCA	0.701																																						uc002pmf.3		NaN																	0					0						c.(286-288)GTG>ATG		neurotrophin 5 preproprotein							21.0	19.0	19.0					19																	49564969		2185	4262	6447	SO:0001583	missense	4909				adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	g.chr19:49564969C>T		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.286G>A	19.37:g.49564969C>T	ENSP00000469455:p.Val96Met					CGB7_uc010yah.1_Intron	p.V96M	NM_006179	NP_006170	P34130	NTF4_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	427	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	96					Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	c.286G>A	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691392	0.68271	.	.	ENSG00000167744	ENST00000301411	T	0.74526	-0.85	3.54	3.54	0.40534	Nerve growth factor-related (5);	0.000000	0.64402	D	0.000013	D	0.84920	0.5579	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87483	0.2422	10	0.87932	D	0	-13.0841	14.7254	0.69341	0.0:1.0:0.0:0.0	.	96	P34130	NTF4_HUMAN	M	96	ENSP00000301411:V96M	ENSP00000301411:V96M	V	-	1	0	NTF4	54256781	0.997000	0.39634	0.951000	0.38953	0.494000	0.33585	5.855000	0.69510	1.945000	0.56424	0.313000	0.20887	GTG		0.701	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1		NM_006179		38	34	0	0	0	0.005524	0	38	34		
PPFIA3	8541	broad.mit.edu	37	19	49643309	49643309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49643309C>T	ENST00000334186.4	+	18	2681	c.2332C>T	c.(2332-2334)Cga>Tga	p.R778*	PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.R778*	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	778					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGAGAAGGGACGAATGGGACC	0.547																																						uc002pmr.2		NaN																	0				lung(1)	1						c.(2332-2334)CGA>TGA		PTPRF interacting protein alpha 3							105.0	104.0	104.0					19																	49643309		2203	4300	6503	SO:0001587	stop_gained	8541					cell surface|cytoplasm	protein binding	g.chr19:49643309C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2332C>T	19.37:g.49643309C>T	ENSP00000335614:p.Arg778*					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Nonsense_Mutation_p.R646*|PPFIA3_uc002pmt.2_5'Flank	p.R778*	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	18	2664	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	778					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Nonsense_Mutation	SNP	ENST00000334186.4	37	c.2332C>T	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	c	42	9.170088	0.99089	.	.	ENSG00000177380	ENST00000334186	.	.	.	3.64	1.29	0.21616	.	0.000000	0.41938	U	0.000785	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4894	10.556	0.45118	0.495:0.505:0.0:0.0	.	.	.	.	X	778	.	ENSP00000335614:R778X	R	+	1	2	PPFIA3	54335121	0.972000	0.33761	0.835000	0.33067	0.956000	0.61745	1.409000	0.34680	0.280000	0.22209	0.450000	0.29827	CGA		0.547	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1		NM_003660		47	78	0	0	0	0.01441	0	47	78		
POLD1	5424	broad.mit.edu	37	19	50905324	50905324	+	Missense_Mutation	SNP	G	G	T	rs140707092		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:50905324G>T	ENST00000440232.2	+	5	585	c.532G>T	c.(532-534)Ggg>Tgg	p.G178W	POLD1_ENST00000599857.1_Missense_Mutation_p.G178W|POLD1_ENST00000595904.1_Missense_Mutation_p.G178W	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	178					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGACAGTCGCGGGGGGAGGGA	0.672								DNA polymerases (catalytic subunits)																														uc002psb.3		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(532-534)GGG>TGG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase delta 1							32.0	39.0	37.0					19																	50905324		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905324G>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.532G>T	19.37:g.50905324G>T	ENSP00000406046:p.Gly178Trp					POLD1_uc002psc.3_Missense_Mutation_p.G178W|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.G178W	p.G178W	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	5	588	+		all_neural(266;0.0571)	178					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.532G>T	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373085	0.24857	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.31510	1.49	4.32	3.27	0.37495	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.596363	0.16445	N	0.214136	T	0.43055	0.1230	L	0.48362	1.52	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.71184	0.959;0.972	T	0.13926	-1.0491	10	0.87932	D	0	-29.9694	6.7682	0.23579	0.0947:0.0:0.731:0.1742	.	178;178	E7EVW0;P28340	.;DPOD1_HUMAN	W	178;179	ENSP00000406046:G178W	ENSP00000366129:G179W	G	+	1	0	POLD1	55597136	0.453000	0.25721	0.370000	0.25965	0.031000	0.12232	2.365000	0.44196	0.957000	0.37930	0.491000	0.48974	GGG		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1				49	53	1	0	8.72198e-27	0.01441	9.79586e-27	49	53		
POLD1	5424	broad.mit.edu	37	19	50918133	50918133	+	Missense_Mutation	SNP	G	G	A	rs142017093		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:50918133G>A	ENST00000440232.2	+	20	2503	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q	POLD1_ENST00000599857.1_Missense_Mutation_p.R817Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R843Q|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	817					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TTCTCCTCCCGGCCCGACGCC	0.667								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002psb.3		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(2449-2451)CGG>CAG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase delta 1							52.0	49.0	50.0					19																	50918133		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50918133G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2450G>A	19.37:g.50918133G>A	ENSP00000406046:p.Arg817Gln		OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	973	POLD1_uc002psc.3_Missense_Mutation_p.R817Q|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R843Q	p.R817Q	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	20	2506	+		all_neural(266;0.0571)	817					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2450G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934772	0.34189	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.17370	2.28	4.84	3.79	0.43588	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.166320	0.49916	D	0.000121	T	0.25121	0.0610	M	0.85462	2.755	0.35754	D	0.819624	B;B	0.26120	0.142;0.028	B;B	0.28232	0.087;0.037	T	0.25047	-1.0143	10	0.56958	D	0.05	-18.2363	9.4566	0.38758	0.1755:0.0:0.8245:0.0	.	843;817	E7EVW0;P28340	.;DPOD1_HUMAN	Q	817;818	ENSP00000406046:R817Q	ENSP00000366129:R818Q	R	+	2	0	POLD1	55609945	1.000000	0.71417	0.193000	0.23327	0.039000	0.13416	3.379000	0.52440	1.184000	0.42957	0.550000	0.68814	CGG		0.667	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1				46	49	0	0	0	0.013114	0	46	49		
KLK15	55554	broad.mit.edu	37	19	51330209	51330209	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:51330209C>T	ENST00000598239.1	-	3	436	c.406G>A	c.(406-408)Gag>Aag	p.E136K	KLK15_ENST00000596931.1_Missense_Mutation_p.E135K|KLK15_ENST00000326856.4_Missense_Mutation_p.E135K|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.E136K	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	136	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACACAGGCCTCCCCCGGGTGG	0.692																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2		NaN																	0				lung(1)|breast(1)	2						c.(406-408)GAG>AAG		kallikrein-related peptidase 15 isoform 4							26.0	29.0	28.0					19																	51330209		2201	4298	6499	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330209C>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.406G>A	19.37:g.51330209C>T	ENSP00000469315:p.Glu136Lys					KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.E136K|KLK15_uc002pto.2_Missense_Mutation_p.E135K|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.E135K|KLK15_uc010eod.2_RNA	p.E136K	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	437	-		all_neural(266;0.057)	136			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.406G>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	13.44	2.239184	0.39598	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.88586	-2.4	4.5	3.46	0.39613	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.141481	0.32314	N	0.006279	T	0.81264	0.4786	N	0.12853	0.265	0.09310	N	0.999992	P;B;P	0.37688	0.465;0.06;0.605	B;B;B	0.42462	0.105;0.063;0.388	T	0.75365	-0.3343	10	0.72032	D	0.01	.	10.7347	0.46117	0.0:0.9052:0.0:0.0948	.	136;135;136	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	K	136	ENSP00000301421:E136K	ENSP00000301421:E136K	E	-	1	0	KLK15	56022021	0.214000	0.23563	0.587000	0.28692	0.386000	0.30323	2.308000	0.43690	1.261000	0.44149	0.555000	0.69702	GAG		0.692	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1		NM_017509		16	97	0	0	0	0.003163	0	16	97		
KLK15	55554	broad.mit.edu	37	19	51330397	51330397	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:51330397C>T	ENST00000598239.1	-	3	248	c.218G>A	c.(217-219)gGa>gAa	p.G73E	KLK15_ENST00000596931.1_Missense_Mutation_p.G72E|KLK15_ENST00000326856.4_Missense_Mutation_p.G72E|KLK15_ENST00000416184.1_Missense_Mutation_p.G73E|KLK15_ENST00000301421.2_Missense_Mutation_p.G73E	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	73	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTTGTGCTCTCCCAGGCGCAC	0.622																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2		NaN																	0				lung(1)|breast(1)	2						c.(217-219)GGA>GAA		kallikrein-related peptidase 15 isoform 4							60.0	52.0	55.0					19																	51330397		2201	4298	6499	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330397C>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.218G>A	19.37:g.51330397C>T	ENSP00000469315:p.Gly73Glu					KLK15_uc002ptm.2_Missense_Mutation_p.G73E|KLK15_uc002ptn.2_Missense_Mutation_p.G73E|KLK15_uc002pto.2_Missense_Mutation_p.G72E|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Missense_Mutation_p.G72E|KLK15_uc010eod.2_RNA	p.G73E	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	249	-		all_neural(266;0.057)	73			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.218G>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021255	0.93462	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.97041	-4.22;-4.22	4.51	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.141723	0.32533	N	0.005976	D	0.98861	0.9615	H	0.95816	3.725	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.99222	1.0879	10	0.87932	D	0	.	15.1071	0.72329	0.0:1.0:0.0:0.0	.	73;72;73;73	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	E	73	ENSP00000415136:G73E;ENSP00000301421:G73E	ENSP00000301421:G73E	G	-	2	0	KLK15	56022209	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	7.134000	0.77268	2.519000	0.84933	0.561000	0.74099	GGA		0.622	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1		NM_017509		20	120	0	0	0	0.008871	0	20	120		
ZNF614	80110	broad.mit.edu	37	19	52519431	52519431	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:52519431C>T	ENST00000270649.6	-	5	1964	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	474					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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGACATCTCTCATGTTGTATG	0.408																																						uc002pyj.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5						c.(1420-1422)GAG>AAG		zinc finger protein 614							144.0	132.0	136.0					19																	52519431		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519431C>T	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1420G>A	19.37:g.52519431C>T	ENSP00000270649:p.Glu474Lys					ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.E177K	p.E474K	NM_025040	NP_079316	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1822	-		all_neural(266;0.0505)	474			C2H2-type 9.		Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.1420G>A	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326750	0.41197	.	.	ENSG00000142556	ENST00000270649	T	0.17370	2.28	3.45	-0.549	0.11829	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08891	0.0220	N	0.20445	0.575	0.09310	N	1	P	0.35844	0.524	B	0.28849	0.095	T	0.25047	-1.0143	9	0.66056	D	0.02	.	6.875	0.24141	0.1664:0.3429:0.4907:0.0	.	474	Q8N883	ZN614_HUMAN	K	474	ENSP00000270649:E474K	ENSP00000270649:E474K	E	-	1	0	ZNF614	57211243	0.000000	0.05858	0.640000	0.29408	0.995000	0.86356	-1.683000	0.01934	0.152000	0.19188	0.563000	0.77884	GAG		0.408	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1		NM_025040		27	291	0	0	0	0.005443	0	27	291		
ZNF761	388561	broad.mit.edu	37	19	53958557	53958557	+	RNA	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:53958557G>A	ENST00000454407.1	+	0	1249							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGTCACACTGGTGAGAATCC	0.413																																						uc010eqp.2		NaN																	0				ovary(1)	1						c.(796-798)GGT>AGT		zinc finger protein 761							176.0	165.0	169.0					19																	53958557		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958557G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958557G>A						ZNF761_uc010ydy.1_Missense_Mutation_p.G212S|ZNF761_uc002qbt.1_Missense_Mutation_p.G212S	p.G266S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1254	+			266					Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.796G>A																																																																																					0.413	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401		146	234	0	0	0	0.01441	0	146	234		
NLRP5	126206	broad.mit.edu	37	19	56538965	56538965	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:56538965C>T	ENST00000390649.3	+	7	1366	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	456	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACAAGGGTTGCGTGCGATCAT	0.592																																						uc002qmj.2		NaN																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1366-1368)CGT>TGT		NACHT, LRR and PYD containing protein 5							45.0	49.0	48.0					19																	56538965		2100	4232	6332	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538965C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1366C>T	19.37:g.56538965C>T	ENSP00000375063:p.Arg456Cys					NLRP5_uc002qmi.2_Missense_Mutation_p.R437C	p.R456C	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1366	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	456			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1366C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437056	0.25900	.	.	ENSG00000171487	ENST00000390649	T	0.73047	-0.71	2.86	-0.67	0.11384	.	2.128970	0.02585	N	0.099312	T	0.53498	0.1800	L	0.42744	1.35	0.09310	N	1	P	0.40083	0.702	B	0.26614	0.071	T	0.44159	-0.9346	10	0.32370	T	0.25	.	2.6114	0.04892	0.2758:0.4479:0.0:0.2763	.	456	P59047	NALP5_HUMAN	C	456	ENSP00000375063:R456C	ENSP00000375063:R456C	R	+	1	0	NLRP5	61230777	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.262000	0.02852	-0.068000	0.12953	-0.748000	0.03510	CGT		0.592	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1		NM_153447		25	36	0	0	0	0.00333	0	25	36		
ROCK2	9475	broad.mit.edu	37	2	11338883	11338883	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:11338883C>T	ENST00000315872.6	-	24	3376	c.2928G>A	c.(2926-2928)agG>agA	p.R976R	ROCK2_ENST00000401753.1_Silent_p.R733R	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	976					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TAGTTAGTGTCCTATTAGTTT	0.279																																						uc002rbd.1		NaN																	0				stomach(2)|skin(2)	4						c.(2926-2928)AGG>AGA		Rho-associated, coiled-coil containing protein							51.0	46.0	48.0					2																	11338883		1812	4062	5874	SO:0001819	synonymous_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11338883C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2928G>A	2.37:g.11338883C>T							p.R976R	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	24	3377	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		976			Potential.		Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	c.2928G>A	CCDS42654.1																																																																																				0.279	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3				11	33	0	0	0	0.00245	0	11	33		
RHOB	388	broad.mit.edu	37	2	20647365	20647365	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:20647365G>A	ENST00000272233.4	+	1	531	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	47					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	GGCCGACATTGAGGTGGACGG	0.647																																						uc002rdv.2		NaN																	0				ovary(1)|lung(1)	2						c.(139-141)GAG>AAG		ras homolog gene family, member B precursor							103.0	103.0	103.0					2																	20647365		2203	4300	6503	SO:0001583	missense	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647365G>A		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.139G>A	2.37:g.20647365G>A	ENSP00000272233:p.Glu47Lys						p.E47K	NM_004040	NP_004031	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	531	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	47					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	c.139G>A	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745723	0.49151	.	.	ENSG00000143878	ENST00000272233	T	0.77098	-1.07	5.51	4.63	0.57726	Small GTP-binding protein domain (1);	0.131196	0.49916	U	0.000139	T	0.75398	0.3844	L	0.43757	1.38	0.80722	D	1	B	0.29085	0.232	B	0.37239	0.244	T	0.76075	-0.3092	10	0.72032	D	0.01	-18.8437	14.8252	0.70107	0.0696:0.0:0.9304:0.0	.	47	P62745	RHOB_HUMAN	K	47	ENSP00000272233:E47K	ENSP00000272233:E47K	E	+	1	0	RHOB	20510846	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	9.674000	0.98633	1.477000	0.48234	-0.150000	0.13652	GAG		0.647	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1		NM_004040		28	101	0	0	0	0.005443	0	28	101		
ZNF512	84450	broad.mit.edu	37	2	27825413	27825413	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:27825413C>G	ENST00000355467.4	+	8	836	c.753C>G	c.(751-753)ctC>ctG	p.L251L	ZNF512_ENST00000413371.2_Silent_p.L174L|ZNF512_ENST00000556601.1_Silent_p.L120L|ZNF512_ENST00000416005.2_Silent_p.L222L|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.L250L	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	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)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TGGGAAAGCTCAGGTGCATGC	0.463																																						uc002rla.2		NaN																	0				ovary(1)	1						c.(751-753)CTC>CTG		zinc finger protein 512							89.0	79.0	82.0					2																	27825413		2203	4300	6503	SO:0001819	synonymous_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27825413C>G	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.753C>G	2.37:g.27825413C>G						ZNF512_uc010ylv.1_Silent_p.L172L|ZNF512_uc010ylw.1_Silent_p.L222L|ZNF512_uc002rlb.2_Silent_p.L172L|ZNF512_uc010ylx.1_Silent_p.L172L|ZNF512_uc002rlc.2_Silent_p.L172L|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Silent_p.L144L	p.L251L	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN			8	840	+	Acute lymphoblastic leukemia(172;0.155)		251					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Silent	SNP	ENST00000355467.4	37	c.753C>G	CCDS1758.1																																																																																				0.463	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2		NM_032434		7	54	0	0	0	0.004482	0	7	54		
GTF2A1L	11036	broad.mit.edu	37	2	48874166	48874166	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:48874166A>G	ENST00000403751.3	+	6	1000	c.963A>G	c.(961-963)atA>atG	p.I321M	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I1025M|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.I287M|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.I1025M|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I1025M|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I1025M|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.I978M|LHCGR_ENST00000420913.3_Splice_Site	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	321					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAGCAACATACCTGTATCAG	0.393																																						uc010yol.1		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2932-2934)ATA>ATG		stonin 1							21.0	21.0	21.0					2																	48874166		2197	4284	6481	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48874166A>G	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.963A>G	2.37:g.48874166A>G	ENSP00000384597:p.Ile321Met					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.I1025M|GTF2A1L_uc002rws.1_Missense_Mutation_p.I321M|GTF2A1L_uc010yom.1_Missense_Mutation_p.I287M|GTF2A1L_uc002rwt.2_Missense_Mutation_p.I321M	p.I978M	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2981	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	978					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2934A>G	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	A	6.871	0.530034	0.13127	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.8	-3.83	0.04269	.	1.070400	0.07282	N	0.870862	T	0.21841	0.0526	N	0.11927	0.2	0.09310	N	1	B;B;P;P;B	0.39022	0.435;0.054;0.568;0.655;0.11	B;B;B;B;B	0.41619	0.116;0.014;0.202;0.361;0.054	T	0.18304	-1.0341	10	0.39692	T	0.17	.	2.3502	0.04281	0.2222:0.4001:0.254:0.1237	.	287;978;1025;321;1025	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	M	1025;1025;1025;1025;978;320;330;287;321	ENSP00000385499:I1025M;ENSP00000385701:I1025M;ENSP00000378236:I1025M;ENSP00000311493:I1025M;ENSP00000378234:I978M;ENSP00000396702:I330M;ENSP00000387896:I287M;ENSP00000384597:I321M	ENSP00000384597:I321M	I	+	3	3	STON1-GTF2A1L;GTF2A1L	48727670	0.000000	0.05858	0.025000	0.17156	0.259000	0.26198	-2.232000	0.01205	-0.233000	0.09797	0.482000	0.46254	ATA		0.393	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4		NM_006872		23	53	0	0	0	0.00278	0	23	53		
NRXN1	9378	broad.mit.edu	37	2	50733754	50733754	+	Splice_Site	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:50733754G>T	ENST00000406316.2	-	13	3852	c.2376C>A	c.(2374-2376)agC>agA	p.S792R	NRXN1_ENST00000406859.3_Splice_Site_p.S792R|NRXN1_ENST00000405472.3_Splice_Site_p.S784R|NRXN1_ENST00000401669.2_Splice_Site_p.S792R|NRXN1_ENST00000404971.1_Splice_Site_p.S832R|NRXN1_ENST00000402717.3_Splice_Site_p.S784R|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	792	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGGACCTTTGCCTGTAGAAT	0.458																																						uc010fbq.2		NaN																	0				ovary(2)	2						c.(2494-2496)AGC>AGA		neurexin 1 isoform alpha2 precursor							94.0	88.0	90.0					2																	50733754		1900	4124	6024	SO:0001630	splice_region_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50733754G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2375-1C>A	2.37:g.50733754G>T						NRXN1_uc002rxb.3_Missense_Mutation_p.S464R|NRXN1_uc002rxe.3_Missense_Mutation_p.S792R|NRXN1_uc002rxc.1_RNA	p.S832R	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		13	3973	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2496C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802237	0.50315	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.7	5.7	0.88788	.	0.039127	0.85682	D	0.000000	D	0.83330	0.5231	L	0.56124	1.755	0.42581	D	0.993214	B;B;D	0.52996	0.138;0.03;0.957	B;B;P	0.55455	0.126;0.049;0.776	T	0.81571	-0.0872	10	0.37606	T	0.19	.	19.8388	0.96673	0.0:0.0:1.0:0.0	.	832;792;784	Q9ULB1-3;F8WB18;A7E294	.;.;.	R	832;792;784;792;833;784;792	ENSP00000385142:S832R;ENSP00000384311:S792R;ENSP00000434015:S784R;ENSP00000385017:S792R;ENSP00000385434:S784R;ENSP00000385681:S792R	ENSP00000385017:S792R	S	-	3	2	NRXN1	50587258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.414000	0.66405	2.695000	0.91970	0.561000	0.74099	AGC		0.458	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			Missense_Mutation	7	66	1	0	2.0095e-06	0.001984	2.08764e-06	7	66		
EFEMP1	2202	broad.mit.edu	37	2	56144828	56144828	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:56144828G>C	ENST00000394555.2	-	4	924	c.489C>G	c.(487-489)taC>taG	p.Y163*	EFEMP1_ENST00000424836.2_Nonsense_Mutation_p.Y105*|EFEMP1_ENST00000355426.3_Nonsense_Mutation_p.Y163*|EFEMP1_ENST00000394554.1_Nonsense_Mutation_p.Y163*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	163					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CACTTTGCTCGTAGCCTGCTG	0.507																																					GBM(92;934 1319 7714 28760 40110)	uc002rzh.2		NaN																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(487-489)TAC>TAG		EGF-containing fibulin-like extracellular matrix							104.0	103.0	103.0					2																	56144828		2203	4300	6503	SO:0001587	stop_gained	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56144828G>C	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.489C>G	2.37:g.56144828G>C	ENSP00000378058:p.Tyr163*					EFEMP1_uc002rzi.2_Nonsense_Mutation_p.Y163*|EFEMP1_uc002rzj.2_Nonsense_Mutation_p.Y163*|EFEMP1_uc010ypc.1_Nonsense_Mutation_p.Y105*	p.Y163*	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	819	-			163					A8K3I4|B4DW75|D6W5D2|Q541U7	Nonsense_Mutation	SNP	ENST00000394555.2	37	c.489C>G	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193703	0.78902	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672	.	.	.	5.96	-3.55	0.04639	.	0.104836	0.42964	D	0.000634	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5901	0.56437	0.5924:0.0:0.4076:0.0	.	.	.	.	X	163;163;105;163;163	.	ENSP00000347596:Y163X	Y	-	3	2	EFEMP1	55998332	0.856000	0.29760	0.973000	0.42090	0.947000	0.59692	-0.106000	0.10890	-0.622000	0.05626	-1.128000	0.01989	TAC		0.507	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2				58	225	0	0	0	0.01441	0	58	225		
FAM161A	84140	broad.mit.edu	37	2	62067209	62067209	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:62067209C>T	ENST00000405894.3	-	3	1031	c.930G>A	c.(928-930)ctG>ctA	p.L310L	FAM161A_ENST00000404929.1_Silent_p.L310L	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	310					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTCTCCTTCAGAGACCTTC	0.443																																						uc010ypo.1		NaN																	0				large_intestine(2)|ovary(1)	3						c.(928-930)CTG>CTA		hypothetical protein LOC84140							147.0	135.0	139.0					2																	62067209		1841	4097	5938	SO:0001819	synonymous_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62067209C>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.930G>A	2.37:g.62067209C>T						FAM161A_uc002sbm.3_Silent_p.L310L|FAM161A_uc002sbn.3_Silent_p.L120L|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Silent_p.L201L	p.L310L	NM_032180	NP_115556	Q3B820	F161A_HUMAN			3	1032	-			310			Potential.		B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	c.930G>A	CCDS42687.2																																																																																				0.443	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2		NM_032180		62	268	0	0	0	0.01441	0	62	268		
STAMBP	10617	broad.mit.edu	37	2	74074811	74074811	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:74074811G>T	ENST00000394070.2	+	5	1176	c.673G>T	c.(673-675)Gta>Tta	p.V225L	STAMBP_ENST00000409707.1_Missense_Mutation_p.V225L|STAMBP_ENST00000536064.1_Intron|STAMBP_ENST00000339566.3_Missense_Mutation_p.V225L|STAMBP_ENST00000394073.1_Missense_Mutation_p.V225L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	225					JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						TCACACAACTGTAAGGCCAGC	0.517																																						uc002sjs.2		NaN																	0				ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(673-675)GTA>TTA		STAM binding protein							110.0	96.0	101.0					2																	74074811		2203	4300	6503	SO:0001583	missense	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74074811G>T	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.673G>T	2.37:g.74074811G>T	ENSP00000377633:p.Val225Leu					STAMBP_uc002sjt.2_Missense_Mutation_p.V225L|STAMBP_uc002sju.2_Missense_Mutation_p.V225L|STAMBP_uc002sjv.2_Missense_Mutation_p.V225L	p.V225L	NM_201647	NP_964010	O95630	STABP_HUMAN			5	723	+			225					B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	c.673G>T	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	G	4.500	0.092693	0.08632	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000432295;ENST00000394073;ENST00000394070	T;T;T;T;T	0.23147	1.95;1.95;1.92;1.95;1.95	5.22	-1.91	0.07641	.	1.421770	0.04598	N	0.398092	T	0.12475	0.0303	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27673	-1.0067	10	0.26408	T	0.33	-15.1423	6.7447	0.23454	0.0751:0.4792:0.3233:0.1224	.	225	O95630	STABP_HUMAN	L	225	ENSP00000344742:V225L;ENSP00000386548:V225L;ENSP00000413874:V225L;ENSP00000377636:V225L;ENSP00000377633:V225L	ENSP00000344742:V225L	V	+	1	0	STAMBP	73928319	0.000000	0.05858	0.000000	0.03702	0.994000	0.84299	0.327000	0.19663	-0.140000	0.11394	0.650000	0.86243	GTA		0.517	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2		NM_006463		23	153	1	0	3.5997e-14	0.014323	3.891e-14	23	153		
LRRTM1	347730	broad.mit.edu	37	2	80529551	80529551	+	Missense_Mutation	SNP	A	A	C	rs148119501		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:80529551A>C	ENST00000295057.3	-	2	2050	c.1394T>G	c.(1393-1395)gTc>gGc	p.V465G	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V465G	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	465					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCTGCGTGACAAAGCACTG	0.532										HNSCC(69;0.2)			A|||	1	0.000199681	0.0	0.0	5008	,	,		20044	0.0		0.001	False		,,,				2504	0.0					uc002sok.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1393-1395)GTC>GGC		leucine rich repeat transmembrane neuronal 1		A	,,GLY/VAL	2,4404	4.2+/-10.8	0,2,2201	123.0	106.0	112.0		,,1394	5.2	1.0	2	dbSNP_134	112	21,8579	14.6+/-50.1	0,21,4279	yes	intron,intron,missense	CTNNA2,LRRTM1	NM_001164883.1,NM_004389.3,NM_178839.4	,,109	0,23,6480	CC,CA,AA		0.2442,0.0454,0.1768	,,benign	,,465/523	80529551	23,12983	2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529551A>C	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1394T>G	2.37:g.80529551A>C	ENSP00000295057:p.Val465Gly	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.V465G	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1664	-			465			Cytoplasmic (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1394T>G	CCDS1966.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	10.74	1.434472	0.25813	4.54E-4	0.002442	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.44083	0.93;0.93	5.18	5.18	0.71444	.	0.165319	0.40640	U	0.001051	T	0.27349	0.0671	N	0.19112	0.55	0.80722	D	1	B	0.29716	0.255	B	0.22152	0.038	T	0.07177	-1.0786	9	.	.	.	.	15.031	0.71708	1.0:0.0:0.0:0.0	.	465	Q86UE6	LRRT1_HUMAN	G	465	ENSP00000295057:V465G;ENSP00000386646:V465G	.	V	-	2	0	LRRTM1	80383062	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.832000	0.62759	1.930000	0.55929	0.459000	0.35465	GTC		0.532	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1		NM_178839		20	126	0	0	0	0.014323	0	20	126		
CNOT11	55571	broad.mit.edu	37	2	101869621	101869621	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:101869621G>A	ENST00000289382.3	+	1	358	c.195G>A	c.(193-195)ccG>ccA	p.P65P	TBC1D8_ENST00000462819.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	65					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											GCTTGACCCCGAAGGAGCTCT	0.731																																						uc002taw.3		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(193-195)CCG>CCA		hypothetical protein LOC55571							10.0	12.0	11.0					2																	101869621		2188	4279	6467	SO:0001819	synonymous_variant	55571				cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol		g.chr2:101869621G>A	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.195G>A	2.37:g.101869621G>A							p.P65P	NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN			1	277	+			65					Q6P2M9|Q8N681	Silent	SNP	ENST00000289382.3	37	c.195G>A	CCDS2050.1																																																																																				0.731	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1		NM_017546		7	25	0	0	0	0.00308	0	7	25		
IL18RAP	8807	broad.mit.edu	37	2	103063657	103063657	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:103063657G>C	ENST00000264260.2	+	10	1789	c.1200G>C	c.(1198-1200)caG>caC	p.Q400H	IL18RAP_ENST00000409369.1_Missense_Mutation_p.Q258H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	400					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GCAAGGATCAGACGCTTGGGG	0.557																																						uc002tbx.2		NaN																	0				skin(3)|ovary(2)	5						c.(1198-1200)CAG>CAC		interleukin 18 receptor accessory protein							132.0	135.0	134.0					2																	103063657		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103063657G>C	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1200G>C	2.37:g.103063657G>C	ENSP00000264260:p.Gln400His					IL18RAP_uc010fiz.2_Missense_Mutation_p.Q258H	p.Q400H	NM_003853	NP_003844	O95256	I18RA_HUMAN			10	1684	+			400			Cytoplasmic (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1200G>C	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738315	0.30774	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02421	4.3;4.3	6.05	4.04	0.47022	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.162184	0.43579	D	0.000558	T	0.01661	0.0053	N	0.08118	0	0.19775	N	0.999958	B	0.10296	0.003	B	0.04013	0.001	T	0.42865	-0.9426	10	0.87932	D	0	.	4.4475	0.11604	0.3526:0.0:0.6474:0.0	.	400	O95256	I18RA_HUMAN	H	400;258	ENSP00000264260:Q400H;ENSP00000387201:Q258H	ENSP00000264260:Q400H	Q	+	3	2	IL18RAP	102430089	1.000000	0.71417	0.971000	0.41717	0.319000	0.28217	2.162000	0.42367	1.576000	0.49790	0.650000	0.86243	CAG		0.557	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2		NM_003853		225	180	0	0	0	0.01441	0	225	180		
CNTNAP5	129684	broad.mit.edu	37	2	125192129	125192129	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:125192129A>T	ENST00000431078.1	+	5	962	c.598A>T	c.(598-600)Act>Tct	p.T200S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	200	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTGATGAGTACTCTCAAAGA	0.468																																						uc002tno.2		NaN																	0				ovary(10)	10						c.(598-600)ACT>TCT		contactin associated protein-like 5 precursor							128.0	122.0	124.0					2																	125192129		1998	4193	6191	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125192129A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.598A>T	2.37:g.125192129A>T	ENSP00000399013:p.Thr200Ser					CNTNAP5_uc010flu.2_Missense_Mutation_p.T200S	p.T200S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	5	962	+			200			Laminin G-like 1.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.598A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.137151	0.37728	.	.	ENSG00000155052	ENST00000431078	T	0.79033	-1.23	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.48767	D	0.000161	T	0.60753	0.2293	N	0.20445	0.575	0.58432	D	0.999999	B	0.22080	0.064	B	0.15870	0.014	T	0.58070	-0.7701	10	0.02654	T	1	.	14.7735	0.69699	1.0:0.0:0.0:0.0	.	200	Q8WYK1	CNTP5_HUMAN	S	200	ENSP00000399013:T200S	ENSP00000399013:T200S	T	+	1	0	CNTNAP5	124908599	1.000000	0.71417	0.914000	0.36105	0.986000	0.74619	7.355000	0.79434	2.084000	0.62774	0.533000	0.62120	ACT		0.468	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3				22	77	0	0	0	0.014323	0	22	77		
ACVR2A	92	broad.mit.edu	37	2	148676128	148676128	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:148676128T>A	ENST00000241416.7	+	7	1565	c.929T>A	c.(928-930)cTa>cAa	p.L310Q	ACVR2A_ENST00000535787.1_Missense_Mutation_p.L202Q|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L310Q	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ATACCTGGCCTAAAAGATGGC	0.378																																						uc002twg.2		NaN																	0				stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13						c.(928-930)CTA>CAA		activin A receptor, type IIA precursor							55.0	56.0	56.0					2																	148676128		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148676128T>A		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.929T>A	2.37:g.148676128T>A	ENSP00000241416:p.Leu310Gln					ACVR2A_uc010zbn.1_Missense_Mutation_p.L202Q|ACVR2A_uc002twh.2_Missense_Mutation_p.L310Q	p.L310Q	NM_001616	NP_001607	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	8	1198	+			310			Cytoplasmic (Potential).|Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.929T>A	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852481	0.51270	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.87966	-2.32;-2.27;-2.32	5.63	3.22	0.36961	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138068	0.49305	D	0.000153	T	0.75539	0.3863	N	0.20685	0.6	0.46376	D	0.99901	B	0.19706	0.038	B	0.23419	0.046	T	0.63256	-0.6678	10	0.28530	T	0.3	.	7.3172	0.26507	0.0:0.0733:0.1448:0.7819	.	310	P27037	AVR2A_HUMAN	Q	310;202;310	ENSP00000241416:L310Q;ENSP00000439988:L202Q;ENSP00000384338:L310Q	ENSP00000241416:L310Q	L	+	2	0	ACVR2A	148392598	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	3.490000	0.53245	0.401000	0.25424	0.460000	0.39030	CTA		0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1		NM_001616		5	43	0	0	0	0.001855	0	5	43		
NEB	4703	broad.mit.edu	37	2	152468823	152468823	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:152468823C>G	ENST00000172853.10	-	74	11100	c.10953G>C	c.(10951-10953)aaG>aaC	p.K3651N	NEB_ENST00000427231.2_Missense_Mutation_p.K3894N|NEB_ENST00000603639.1_Missense_Mutation_p.K3894N|NEB_ENST00000397345.3_Missense_Mutation_p.K3894N|NEB_ENST00000604864.1_Missense_Mutation_p.K3894N|NEB_ENST00000409198.1_Missense_Mutation_p.K3651N			P20929	NEBU_HUMAN	nebulin	3651					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCCAGCTCTCTTCACTTTCT	0.458																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(10951-10953)AAG>AAC		nebulin isoform 3							89.0	84.0	86.0					2																	152468823		1941	4151	6092	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152468823C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10953G>C	2.37:g.152468823C>G	ENSP00000172853:p.Lys3651Asn						p.K3651N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	74	11144	-			3651			Nebulin 100.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.10953G>C		.	.	.	.	.	.	.	.	.	.	C	18.32	3.598932	0.66332	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.11604	2.76;2.84;2.8;2.78	5.54	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	M	0.92970	3.365	0.80722	D	1	D	0.71674	0.998	P	0.58660	0.843	T	0.28996	-1.0026	10	0.87932	D	0	.	10.1708	0.42908	0.0:0.7752:0.0:0.2248	.	3651	P20929	NEBU_HUMAN	N	3651;3894;3894;3651	ENSP00000386259:K3651N;ENSP00000380505:K3894N;ENSP00000416578:K3894N;ENSP00000172853:K3651N	ENSP00000172853:K3651N	K	-	3	2	NEB	152177069	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.094000	0.41719	0.354000	0.24105	-0.136000	0.14681	AAG		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		37	21	0	0	0	0.00623	0	37	21		
NR4A2	4929	broad.mit.edu	37	2	157182439	157182439	+	Silent	SNP	G	G	A	rs550135305		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:157182439G>A	ENST00000339562.4	-	8	1976	c.1614C>T	c.(1612-1614)caC>caT	p.H538H	NR4A2_ENST00000539077.1_Silent_p.H549H|NR4A2_ENST00000426264.1_Silent_p.H475H|NR4A2_ENST00000429376.1_Missense_Mutation_p.R441C|NR4A2_ENST00000409572.1_Silent_p.H538H|NR4A2_ENST00000409108.2_Missense_Mutation_p.R504C	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	538					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.H538H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGAAAGTCACGTGGTCTTTGA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		20346	0.001		0.0	False		,,,				2504	0.0					uc002tyz.3		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)	3						c.(1612-1614)CAC>CAT		nuclear receptor subfamily 4, group A, member 2							125.0	125.0	125.0					2																	157182439		2203	4300	6503	SO:0001819	synonymous_variant	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182439G>A	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1614C>T	2.37:g.157182439G>A						NR4A2_uc002tyx.3_Silent_p.H475H|NR4A2_uc010zcf.1_Silent_p.H538H	p.H538H	NM_006186	NP_006177	P43354	NR4A2_HUMAN			8	2036	-			538					Q16311|Q53RZ2|Q6NXU0	Silent	SNP	ENST00000339562.4	37	c.1614C>T	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	8.487	0.861184	0.17178	.	.	ENSG00000153234	ENST00000409108;ENST00000429376	D;D	0.92911	-3.13;-3.07	6.06	-8.49	0.00931	.	.	.	.	.	D	0.93766	0.8007	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.92765	0.6227	6	0.87932	D	0	.	17.8477	0.88736	0.7497:0.0:0.2503:0.0	.	.	.	.	C	504;441	ENSP00000386993:R504C;ENSP00000410952:R441C	ENSP00000386993:R504C	R	-	1	0	NR4A2	156890685	0.043000	0.20138	0.781000	0.31783	0.996000	0.88848	-0.483000	0.06536	-1.422000	0.02004	-0.238000	0.12139	CGT		0.463	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2				28	60	0	0	0	0.00632	0	28	60		
ACVR1C	130399	broad.mit.edu	37	2	158406900	158406900	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:158406900T>C	ENST00000243349.8	-	4	909	c.549A>G	c.(547-549)ctA>ctG	p.L183L	ACVR1C_ENST00000335450.7_Silent_p.L103L|ACVR1C_ENST00000409680.3_Silent_p.L133L|ACVR1C_ENST00000348328.5_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CCAACAGAGGTAGACCTAACC	0.368																																						uc002tzk.3		NaN																	0				lung(3)|ovary(2)|skin(2)	7						c.(547-549)CTA>CTG		activin A receptor, type IC isoform 1							130.0	124.0	126.0					2																	158406900		2203	4300	6503	SO:0001819	synonymous_variant	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158406900T>C	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.549A>G	2.37:g.158406900T>C						ACVR1C_uc002tzl.3_Silent_p.L103L|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Silent_p.L133L	p.L183L	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			4	792	-			183			Cytoplasmic (Potential).|GS.			Silent	SNP	ENST00000243349.8	37	c.549A>G	CCDS2205.1																																																																																				0.368	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2		NM_145259		61	32	0	0	0	0.01441	0	61	32		
TANK	10010	broad.mit.edu	37	2	162088031	162088031	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:162088031C>A	ENST00000392749.2	+	7	1309	c.1070C>A	c.(1069-1071)tCc>tAc	p.S357Y	TANK_ENST00000405852.1_Missense_Mutation_p.S357Y|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.S357Y|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	357					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TCACTCGATTCCCCGGGAAAA	0.428																																						uc002ubr.1		NaN																	0				ovary(1)	1						c.(1069-1071)TCC>TAC		TRAF interacting protein TANK isoform a							47.0	47.0	47.0					2																	162088031		2203	4299	6502	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162088031C>A	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1070C>A	2.37:g.162088031C>A	ENSP00000376505:p.Ser357Tyr					TANK_uc002ubs.2_Missense_Mutation_p.S357Y	p.S357Y	NM_004180	NP_004171	Q92844	TANK_HUMAN			7	1228	+			357					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.1070C>A	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928380	0.52759	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623;ENST00000439442	T;T;T;T;T	0.37411	1.77;1.77;1.2;1.2;1.55	5.57	4.7	0.59300	.	0.416808	0.26948	N	0.021685	T	0.46112	0.1376	L	0.54323	1.7	0.80722	D	1	D	0.53885	0.963	P	0.50490	0.642	T	0.51379	-0.8713	10	0.87932	D	0	-1.2813	16.2941	0.82762	0.1334:0.8666:0.0:0.0	.	357	Q92844	TANK_HUMAN	Y	357;357;357;248;112	ENSP00000259075:S357Y;ENSP00000376505:S357Y;ENSP00000385487:S357Y;ENSP00000412556:S248Y;ENSP00000387439:S112Y	ENSP00000259075:S357Y	S	+	2	0	TANK	161796277	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.928000	0.48908	1.488000	0.48433	0.585000	0.79938	TCC		0.428	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1		NM_133484		55	65	1	0	7.22619e-39	0.01441	8.29016e-39	55	65		
KCNH7	90134	broad.mit.edu	37	2	163256815	163256815	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:163256815G>T	ENST00000332142.5	-	10	2390	c.2291C>A	c.(2290-2292)aCc>aAc	p.T764N		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	764					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGGTGCATGGGTGGTTTTGAA	0.458																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NaN																	0				ovary(3)|skin(2)	5						c.(2290-2292)ACC>AAC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						159.0	160.0	159.0					2																	163256815		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256815G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2291C>A	2.37:g.163256815G>T	ENSP00000331727:p.Thr764Asn						p.T764N	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			10	2503	-			764			Cytoplasmic (Potential).|cNMP.		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2291C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688887	0.88639	.	.	ENSG00000184611	ENST00000332142	D	0.96651	-4.08	5.57	5.57	0.84162	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.82517	2.595	0.80722	D	1	D	0.63046	0.992	D	0.63703	0.917	D	0.97789	1.0237	10	0.44086	T	0.13	.	19.5531	0.95330	0.0:0.0:1.0:0.0	.	764	Q9NS40	KCNH7_HUMAN	N	764	ENSP00000331727:T764N	ENSP00000331727:T764N	T	-	2	0	KCNH7	162965061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.990000	0.88215	2.628000	0.89032	0.591000	0.81541	ACC		0.458	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1		NM_033272		136	110	1	0	5.32379e-58	0.01441	6.18353e-58	136	110		
SCN1A	6323	broad.mit.edu	37	2	166850696	166850696	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:166850696C>T	ENST00000303395.4	-	25	4811	c.4812G>A	c.(4810-4812)tgG>tgA	p.W1604*	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.W1576*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.W1604*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.W1593*|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1604					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAAATATTCCATCCAATGG	0.323																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(4777-4779)TGG>TGA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						73.0	62.0	66.0					2																	166850696		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166850696C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4812G>A	2.37:g.166850696C>T	ENSP00000303540:p.Trp1604*						p.W1593*	NM_006920	NP_008851	P35498	SCN1A_HUMAN			25	4797	-			1604			IV.|Helical; Name=S3 of repeat IV; (By similarity).		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.4779G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	44	10.580818	0.99431	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	1604;1604;1593;1576	.	ENSP00000303540:W1604X	W	-	3	0	SCN1A	166558942	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.688000	0.84153	2.788000	0.95919	0.650000	0.86243	TGG		0.323	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		13	34	0	0	0	0.001855	0	13	34		
LRP2	4036	broad.mit.edu	37	2	170063662	170063662	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:170063662C>G	ENST00000263816.3	-	39	6853	c.6568G>C	c.(6568-6570)Gac>Cac	p.D2190H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2190					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTAGGCATGTCCACTGTGACT	0.428																																						uc002ues.2		NaN																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(6568-6570)GAC>CAC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						121.0	116.0	118.0					2																	170063662		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063662C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6568G>C	2.37:g.170063662C>G	ENSP00000263816:p.Asp2190His						p.D2190H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	6781	-			2190			LDL-receptor class B 21.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6568G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698892	0.88830	.	.	ENSG00000081479	ENST00000263816	D	0.93811	-3.29	5.98	5.98	0.97165	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97018	0.9026	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96880	0.9645	10	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	2190	P98164	LRP2_HUMAN	H	2190	ENSP00000263816:D2190H	ENSP00000263816:D2190H	D	-	1	0	LRP2	169771908	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	GAC		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		106	95	0	0	0	0.01441	0	106	95		
MYO3B	140469	broad.mit.edu	37	2	171259362	171259362	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:171259362G>T	ENST00000408978.4	+	19	2277	c.2134G>T	c.(2134-2136)Gca>Tca	p.A712S	MYO3B_ENST00000334231.6_Missense_Mutation_p.A721S|MYO3B_ENST00000409044.3_Missense_Mutation_p.A712S|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	712	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						ATGCAGTAGTGCAGGAGGTGG	0.428																																						uc002ufy.2		NaN																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(2134-2136)GCA>TCA		myosin IIIB isoform 2							115.0	107.0	109.0					2																	171259362		1883	4112	5995	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171259362G>T		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.2134G>T	2.37:g.171259362G>T	ENSP00000386213:p.Ala712Ser					MYO3B_uc002ufv.2_Missense_Mutation_p.A699S|MYO3B_uc010fqb.1_Missense_Mutation_p.A699S|MYO3B_uc002ufz.2_Missense_Mutation_p.A712S|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	p.A712S	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			19	2277	+			712			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.2134G>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	3.092	-0.186714	0.06340	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	6.02	3.22	0.36961	Myosin head, motor domain (2);	1.289350	0.05580	N	0.572620	T	0.75339	0.3836	N	0.12746	0.255	0.39715	D	0.971385	B;B;B	0.20459	0.022;0.012;0.045	B;B;B	0.22152	0.01;0.022;0.038	T	0.57906	-0.7730	10	0.10111	T	0.7	.	7.2373	0.26077	0.0604:0.1099:0.6018:0.2279	.	712;712;712	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	S	712;712;711;721;721	ENSP00000386497:A712S;ENSP00000386213:A712S;ENSP00000446237:A721S;ENSP00000335100:A721S	ENSP00000314213:A711S	A	+	1	0	MYO3B	170967608	0.998000	0.40836	0.285000	0.24819	0.033000	0.12548	2.342000	0.43992	0.417000	0.25871	-0.175000	0.13238	GCA		0.428	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1				21	107	1	0	4.54149e-19	0.014323	4.96642e-19	21	107		
PLEKHA3	65977	broad.mit.edu	37	2	179343041	179343041	+	5'Flank	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:179343041G>T	ENST00000234453.5	+	0	0				FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000424785.2_Silent_p.G62G|FKBP7_ENST00000434643.2_Silent_p.G62G	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TAGCCAGGTAGCCGTCATAAT	0.498																																						uc002umk.2		NaN																	0					0						c.(184-186)GGC>GGA		FK506 binding protein 7 isoform a precursor							113.0	107.0	109.0					2																	179343041		2203	4300	6503	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343041G>T	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343041G>T	Exception_encountered					FKBP7_uc002umm.2_Silent_p.G62G|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Silent_p.G58G|PLEKHA3_uc002umn.2_5'Flank	p.G62G	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	315	-			62			PPIase FKBP-type.		Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP	ENST00000234453.5	37	c.186C>A	CCDS33336.1																																																																																				0.498	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2		NM_019091		33	108	1	0	1.99505e-19	0.012213	2.18812e-19	33	108		
TTN	7273	broad.mit.edu	37	2	179617850	179617850	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:179617850C>A	ENST00000591111.1	-	45	10585		c.e45+1		TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATAACAATACCTTTCATTTC	0.294																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.e45+1		titin isoform N2-A							51.0	54.0	53.0					2																	179617850		2195	4284	6479	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179617850C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1G>T	2.37:g.179617850C>A						TTN_uc010zfh.1_Splice_Site_p.E3600_splice|TTN_uc010zfi.1_Splice_Site_p.E3533_splice|TTN_uc010zfj.1_Splice_Site_p.E3408_splice|TTN_uc002umz.1_Splice_Site_p.A115_splice|TTN_uc002unb.2_Splice_Site_p.E3454_splice	p.A3454_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		45	10584	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37	c.10360_splice		.	.	.	.	.	.	.	.	.	.	C	17.49	3.401468	0.62288	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000446208	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179326095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.552000	0.73914	2.941000	0.99782	0.655000	0.94253	.		0.294	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	Intron	5	12	1	0	1.23904e-05	0.000602	1.28011e-05	5	12		
BMPR2	659	broad.mit.edu	37	2	203420682	203420682	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:203420682C>T	ENST00000374580.4	+	12	2833	c.2294C>T	c.(2293-2295)tCa>tTa	p.S765L	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	765					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ACCAAAAATTCAACAAAAGAG	0.428																																						uc002uzf.3		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(2293-2295)TCA>TTA		bone morphogenetic protein receptor type II							49.0	53.0	52.0					2																	203420682		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203420682C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2294C>T	2.37:g.203420682C>T	ENSP00000363708:p.Ser765Leu					BMPR2_uc010ftr.2_Intron	p.S765L	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			12	3442	+			765			Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.2294C>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557342	0.65425	.	.	ENSG00000204217	ENST00000374580	D	0.90900	-2.75	5.73	5.73	0.89815	.	0.175376	0.52532	D	0.000080	D	0.85982	0.5824	N	0.24115	0.695	0.80722	D	1	B	0.26318	0.146	B	0.22152	0.038	T	0.82416	-0.0468	10	0.62326	D	0.03	.	19.9133	0.97031	0.0:1.0:0.0:0.0	.	765	Q13873	BMPR2_HUMAN	L	765	ENSP00000363708:S765L	ENSP00000363708:S765L	S	+	2	0	BMPR2	203128927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.905000	0.69893	2.721000	0.93114	0.655000	0.94253	TCA		0.428	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1		NM_001204		23	80	0	0	0	0.00278	0	23	80		
ZDBF2	57683	broad.mit.edu	37	2	207172029	207172029	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:207172029C>T	ENST00000374423.3	+	5	3163	c.2777C>T	c.(2776-2778)tCa>tTa	p.S926L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	926							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTTTTCATTCAGTGACTGGA	0.318																																						uc002vbp.2		NaN																	0				ovary(3)	3						c.(2776-2778)TCA>TTA		zinc finger, DBF-type containing 2							39.0	38.0	39.0					2																	207172029		1850	4079	5929	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172029C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2777C>T	2.37:g.207172029C>T	ENSP00000363545:p.Ser926Leu						p.S926L	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	3027	+			926					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2777C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599113	0.87055	.	.	ENSG00000204186	ENST00000374423	T	0.56275	0.47	4.23	2.44	0.29823	.	0.000000	0.34002	N	0.004344	T	0.43277	0.1240	L	0.52126	1.63	0.20307	N	0.999914	B	0.25904	0.137	B	0.23852	0.049	T	0.38329	-0.9666	10	0.49607	T	0.09	.	8.8572	0.35236	0.0:0.8299:0.0:0.1701	.	926	Q9HCK1	ZDBF2_HUMAN	L	926	ENSP00000363545:S926L	ENSP00000363545:S926L	S	+	2	0	ZDBF2	206880274	0.044000	0.20184	0.452000	0.26994	0.938000	0.57974	1.008000	0.29872	0.741000	0.32674	0.655000	0.94253	TCA		0.318	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1		NM_020923		18	40	0	0	0	0.00499	0	18	40		
ERBB4	2066	broad.mit.edu	37	2	212285209	212285209	+	Missense_Mutation	SNP	G	G	A	rs369858826		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:212285209G>A	ENST00000342788.4	-	25	3402	c.3092C>T	c.(3091-3093)cCa>cTa	p.P1031L	ERBB4_ENST00000402597.1_Missense_Mutation_p.P1021L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P1031L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1031					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GATGGGAGGTGGGATGTTGAA	0.373										TSP Lung(8;0.080)																												uc002veg.1		NaN																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(3091-3093)CCA>CTA		v-erb-a erythroblastic leukemia viral oncogene							96.0	88.0	91.0					2																	212285209		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212285209G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3092C>T	2.37:g.212285209G>A	ENSP00000342235:p.Pro1031Leu	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.P1031L|ERBB4_uc010zji.1_Missense_Mutation_p.P1021L|ERBB4_uc010zjj.1_Missense_Mutation_p.P1021L	p.P1031L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	25	3190	-		Renal(323;0.06)|Lung NSC(271;0.197)	1031			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3092C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984866	0.74474	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75938	-0.98;-0.97;-0.98	5.88	5.88	0.94601	.	0.056065	0.64402	D	0.000001	T	0.57301	0.2044	N	0.08118	0	0.80722	D	1	B;B;B;B	0.33171	0.4;0.014;0.4;0.278	B;B;B;B	0.30029	0.11;0.02;0.11;0.051	T	0.56086	-0.8037	10	0.20519	T	0.43	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	1021;1021;1031;1031	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	1031;1031;1021	ENSP00000342235:P1031L;ENSP00000403204:P1031L;ENSP00000385565:P1021L	ENSP00000342235:P1031L	P	-	2	0	ERBB4	211993454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.437000	0.97535	2.780000	0.95670	0.655000	0.94253	CCA		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1		NM_001042599		4	70	0	0	0	0.009096	0	4	70		
ATG9A	79065	broad.mit.edu	37	2	220089301	220089301	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:220089301G>C	ENST00000409618.1	-	8	1231	c.792C>G	c.(790-792)ctC>ctG	p.L264L	ATG9A_ENST00000396761.2_Silent_p.L264L|ATG9A_ENST00000488833.1_5'Flank|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Silent_p.L203L|ATG9A_ENST00000361242.4_Silent_p.L264L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	264					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCATTCATTGAGAAACAGAG	0.582																																						uc002vke.1		NaN																	0				skin(1)	1						c.(790-792)CTC>CTG		APG9 autophagy 9-like 1							45.0	49.0	48.0					2																	220089301		2010	4169	6179	SO:0001819	synonymous_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220089301G>C	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.792C>G	2.37:g.220089301G>C						ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.L264L	p.L264L	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	978	-		Renal(207;0.0474)	264			Cytoplasmic (By similarity).		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	37	c.792C>G	CCDS42820.1																																																																																				0.582	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1		NM_024085		15	42	0	0	0	0.00499	0	15	42		
DNPEP	23549	broad.mit.edu	37	2	220251131	220251131	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:220251131C>T	ENST00000273075.4	-	5	556	c.336G>A	c.(334-336)gtG>gtA	p.V112V	AC053503.4_ENST00000420563.1_RNA|DNPEP_ENST00000373972.1_Silent_p.V37V|DNPEP_ENST00000523282.1_Silent_p.V120V	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	102					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCGACGTTTCACCTGAGTGT	0.517																																						uc010zlg.1		NaN																	0					0						c.(358-360)GTG>GTA		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						76.0	81.0	79.0					2																	220251131		2080	4229	6309	SO:0001819	synonymous_variant	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220251131C>T		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.336G>A	2.37:g.220251131C>T						DNPEP_uc010zlf.1_5'Flank|DNPEP_uc002vle.2_Silent_p.V112V|DNPEP_uc002vlf.1_Silent_p.V98V|DNPEP_uc002vlh.2_Silent_p.V59V|DNPEP_uc002vli.1_Silent_p.V59V|DNPEP_uc002vlj.2_Silent_p.V102V|uc002vlk.1_5'Flank	p.V120V	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	442	-		Renal(207;0.0474)	102					Q9BW44|Q9NUV5	Silent	SNP	ENST00000273075.4	37	c.360G>A	CCDS42823.1																																																																																				0.517	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1		NM_012100		23	80	0	0	0	0.00333	0	23	80		
DNER	92737	broad.mit.edu	37	2	230377518	230377518	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:230377518G>A	ENST00000341772.4	-	6	1262	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	376	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAACACAGGTGAAATTGCTCC	0.413																																						uc002vpv.2		NaN																	0				lung(5)|ovary(2)|skin(1)	8						c.(1126-1128)TTC>TTT		delta-notch-like EGF repeat-containing							261.0	214.0	230.0					2																	230377518		2203	4300	6503	SO:0001819	synonymous_variant	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230377518G>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1128C>T	2.37:g.230377518G>A						DNER_uc010zly.1_Silent_p.F104F	p.F376F	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	6	1275	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	376			Extracellular (Potential).|EGF-like 4.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	c.1128C>T	CCDS33390.1																																																																																				0.413	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1		NM_139072		89	72	0	0	0	0.01441	0	89	72		
SNED1	25992	broad.mit.edu	37	2	242027796	242027796	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:242027796C>G	ENST00000310397.8	+	31	4222	c.4222C>G	c.(4222-4224)Cag>Gag	p.Q1408E	MTERFD2_ENST00000464344.2_Intron|SNED1_ENST00000342631.6_Missense_Mutation_p.Q1375E|SNED1_ENST00000405547.3_Missense_Mutation_p.Q1347E	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1408					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AAGTAAGAGTCAGACACTGGA	0.512																																						uc002wah.1		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(4222-4224)CAG>GAG		6720455I24Rik homolog precursor							119.0	122.0	121.0					2																	242027796		1907	4109	6016	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242027796C>G	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4222C>G	2.37:g.242027796C>G	ENSP00000308893:p.Gln1408Glu					SNED1_uc002waj.1_Missense_Mutation_p.Q434E	p.Q1408E	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	31	4222	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	1408					B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.4222C>G	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988350	0.35036	.	.	ENSG00000162804	ENST00000405547;ENST00000310397;ENST00000342631	D;D;D	0.82803	-1.6;-1.58;-1.65	4.22	3.33	0.38152	.	.	.	.	.	T	0.69378	0.3104	N	0.22421	0.69	0.26058	N	0.981392	B	0.19817	0.039	B	0.19391	0.025	T	0.51317	-0.8721	9	0.10111	T	0.7	.	9.9765	0.41786	0.0:0.7927:0.2073:0.0	.	1408	Q8TER0	SNED1_HUMAN	E	1347;1408;1375	ENSP00000386007:Q1347E;ENSP00000308893:Q1408E;ENSP00000342992:Q1375E	ENSP00000308893:Q1408E	Q	+	1	0	SNED1	241676469	0.993000	0.37304	0.976000	0.42696	0.987000	0.75469	1.365000	0.34182	0.747000	0.32809	0.561000	0.74099	CAG		0.512	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2		XM_059482		5	92	0	0	0	0.001168	0	5	92		
ISM1	140862	broad.mit.edu	37	20	13251266	13251266	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:13251266G>T	ENST00000262487.4	+	2	260	c.254G>T	c.(253-255)cGa>cTa	p.R85L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	85						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCCAGACCGCGATTCCGACAA	0.507																																						uc010gce.1		NaN																	0					0						c.(253-255)CGA>CTA		isthmin 1 homolog precursor							90.0	89.0	89.0					20																	13251266		1954	4142	6096	SO:0001583	missense	140862					extracellular region		g.chr20:13251266G>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.254G>T	20.37:g.13251266G>T	ENSP00000262487:p.Arg85Leu					TASP1_uc010zri.1_Intron	p.R85L	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			2	260	+			85					Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.254G>T	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354769	0.41700	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.41758	1.02;0.99	5.8	3.75	0.43078	.	0.128586	0.56097	D	0.000033	T	0.29389	0.0732	L	0.38175	1.15	0.80722	D	1	B	0.32203	0.36	B	0.25987	0.065	T	0.05699	-1.0869	10	0.41790	T	0.15	-1.7916	9.3118	0.37910	0.139:0.1182:0.7429:0.0	.	85	B1AKI9	ISM1_HUMAN	L	85;39	ENSP00000262487:R85L;ENSP00000409938:R39L	ENSP00000262487:R85L	R	+	2	0	ISM1	13199266	0.995000	0.38212	0.997000	0.53966	0.865000	0.49528	1.296000	0.33389	0.707000	0.31934	-0.165000	0.13383	CGA		0.507	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2				3	50	1	0	0.004672	0.004672	0.00474817	3	50		
KIF16B	55614	broad.mit.edu	37	20	16359942	16359942	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:16359942A>C	ENST00000354981.2	-	19	2862	c.2705T>G	c.(2704-2706)cTg>cGg	p.L902R	KIF16B_ENST00000355755.3_Missense_Mutation_p.L902R|KIF16B_ENST00000378003.2_Missense_Mutation_p.L128R|KIF16B_ENST00000408042.1_Missense_Mutation_p.L902R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	902	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTATATTGCAGCCTGTACTC	0.433																																						uc002wpg.1		NaN																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(2704-2706)CTG>CGG		kinesin-like motor protein C20orf23							90.0	86.0	87.0					20																	16359942		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359942A>C	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2705T>G	20.37:g.16359942A>C	ENSP00000347076:p.Leu902Arg					KIF16B_uc002wpe.1_Missense_Mutation_p.L284R|KIF16B_uc002wpf.1_Missense_Mutation_p.L284R|KIF16B_uc010gch.1_Missense_Mutation_p.L902R|KIF16B_uc010gci.1_Missense_Mutation_p.L902R|KIF16B_uc010gcj.1_Missense_Mutation_p.L913R	p.L902R	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	2863	-			902			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2705T>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580864	0.46006	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.44	5.44	0.79542	.	0.076443	0.53938	D	0.000052	T	0.36138	0.0956	L	0.58101	1.795	0.37872	D	0.930085	D;D;D;D	0.58970	0.98;0.984;0.984;0.973	P;P;P;P	0.59056	0.668;0.851;0.793;0.549	T	0.34453	-0.9828	10	0.66056	D	0.02	.	10.408	0.44276	0.9225:0.0:0.0775:0.0	.	902;902;902;902	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	R	902;902;746;128;902	ENSP00000347076:L902R;ENSP00000347995:L902R;ENSP00000367242:L128R;ENSP00000384164:L902R	ENSP00000347076:L902R	L	-	2	0	KIF16B	16307942	0.982000	0.34865	0.917000	0.36280	0.023000	0.10783	6.133000	0.71682	2.076000	0.62316	0.528000	0.53228	CTG		0.433	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2		NM_017683		83	70	0	0	0	0.01441	0	83	70		
CSRP2BP	57325	broad.mit.edu	37	20	18142726	18142726	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:18142726G>C	ENST00000435364.3	+	5	1286	c.945G>C	c.(943-945)ttG>ttC	p.L315F	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.L314F|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.L187F	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	315					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTCCTCCTTGAGCTCCTCTG	0.527																																						uc002wqj.2		NaN																	0				lung(3)|ovary(2)|skin(1)	6						c.(943-945)TTG>TTC		CSRP2 binding protein							144.0	160.0	155.0					20																	18142726		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18142726G>C	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.945G>C	20.37:g.18142726G>C	ENSP00000392318:p.Leu315Phe					CSRP2BP_uc002wqk.2_Missense_Mutation_p.L187F|CSRP2BP_uc010zru.1_Missense_Mutation_p.L186F	p.L315F	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			6	1567	+			315					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.945G>C	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	g	15.41	2.824518	0.50739	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.17854	2.25;2.25;2.25;2.33	5.87	3.89	0.44902	.	0.072735	0.50627	D	0.000117	T	0.16938	0.0407	N	0.19112	0.55	0.58432	D	0.999995	P;D	0.53619	0.944;0.961	P;P	0.50617	0.646;0.541	T	0.01940	-1.1243	10	0.44086	T	0.13	-22.3454	12.1311	0.53944	0.0648:0.1209:0.8143:0.0	.	187;315	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	F	315;314;315;187	ENSP00000278816:L315F;ENSP00000366909:L314F;ENSP00000392318:L315F;ENSP00000425909:L187F	ENSP00000278816:L315F	L	+	3	2	CSRP2BP	18090726	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	1.790000	0.38734	0.907000	0.36646	-0.119000	0.15052	TTG		0.527	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5		NM_020536		101	230	0	0	0	0.01441	0	101	230		
ITCH	83737	broad.mit.edu	37	20	33067581	33067581	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:33067581G>A	ENST00000262650.6	+	19	2064	c.1928G>A	c.(1927-1929)aGa>aAa	p.R643K	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000374864.4_Missense_Mutation_p.R602K|ITCH_ENST00000535650.1_Missense_Mutation_p.R492K			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	643	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTTATTGGCAGATTTATTGCC	0.368																																						uc010geu.1		NaN																	0				breast(4)|lung(1)|central_nervous_system(1)	6						c.(1927-1929)AGA>AAA		itchy homolog E3 ubiquitin protein ligase							141.0	123.0	129.0					20																	33067581		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33067581G>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1928G>A	20.37:g.33067581G>A	ENSP00000262650:p.Arg643Lys					ITCH_uc002xak.2_Missense_Mutation_p.R602K|ITCH_uc010zuj.1_Missense_Mutation_p.R492K	p.R643K	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			19	2120	+			643			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1928G>A	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967157	0.92855	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.55588	0.51;0.51;0.51	4.75	4.75	0.60458	HECT (4);	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.53729	1.69	0.80722	D	1	P;D;D	0.58620	0.95;0.983;0.965	D;D;D	0.68621	0.959;0.912;0.934	T	0.70167	-0.4946	10	0.62326	D	0.03	.	17.8925	0.88877	0.0:0.0:1.0:0.0	.	554;643;602	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	K	602;492;643	ENSP00000363998:R602K;ENSP00000445608:R492K;ENSP00000262650:R643K	ENSP00000262650:R643K	R	+	2	0	ITCH	32531242	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.595000	0.98260	2.641000	0.89580	0.585000	0.79938	AGA		0.368	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2				38	30	0	0	0	0.005524	0	38	30		
CEBPB	1051	broad.mit.edu	37	20	48808576	48808576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:48808576G>T	ENST00000303004.3	+	1	1201	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	336					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GCAGCTGCCCGAGCCCCTGCT	0.746																																						uc002xvi.1		NaN																	0					0						c.(1006-1008)GAG>TAG		CCAAT/enhancer binding protein beta							11.0	12.0	11.0					20																	48808576		2188	4285	6473	SO:0001587	stop_gained	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48808576G>T	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"""basic leucine zipper proteins"""	1834	protein-coding gene	gene with protein product	"""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6"", ""interleukin 6-dependent DNA-binding protein"""	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.1006G>T	20.37:g.48808576G>T	ENSP00000305422:p.Glu336*					CEBPB_uc002xvh.2_RNA	p.E336*	NM_005194	NP_005185	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		1	1201	+			336					A8K671|Q96IH2|Q9H4Z5	Nonsense_Mutation	SNP	ENST00000303004.3	37	c.1006G>T	CCDS13429.1	.	.	.	.	.	.	.	.	.	.	G	38	6.824124	0.97865	.	.	ENSG00000172216	ENST00000303004	.	.	.	3.55	3.55	0.40652	.	0.182364	0.34853	U	0.003636	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-37.0898	15.2984	0.73928	0.0:0.0:1.0:0.0	.	.	.	.	X	336	.	ENSP00000305422:E336X	E	+	1	0	CEBPB	48241983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.594000	0.74104	1.813000	0.52934	0.561000	0.74099	GAG		0.746	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1		NM_005194		6	8	1	0	3.59834e-05	0.001168	3.70738e-05	6	8		
ZNF217	7764	broad.mit.edu	37	20	52199284	52199284	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:52199284G>C	ENST00000371471.2	-	2	507	c.82C>G	c.(82-84)Ctt>Gtt	p.L28V	ZNF217_ENST00000302342.3_Missense_Mutation_p.L28V|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	28					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGACTGCCAAGAGAGCTGCCA	0.458																																						uc002xwq.3		NaN																	0				skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(82-84)CTT>GTT		zinc finger protein 217							90.0	87.0	88.0					20																	52199284		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52199284G>C	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.82C>G	20.37:g.52199284G>C	ENSP00000360526:p.Leu28Val					ZNF217_uc010gij.1_Missense_Mutation_p.L20V	p.L28V	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		1	353	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		28					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.82C>G	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	6.588	0.476776	0.12521	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000431687	T;T	0.07114	3.22;3.22	5.79	4.82	0.62117	.	0.370555	0.26213	N	0.025675	T	0.03827	0.0108	N	0.08118	0	0.28107	N	0.931141	B	0.18461	0.028	B	0.15870	0.014	T	0.40459	-0.9562	10	0.12430	T	0.62	-23.4972	8.6374	0.33957	0.0:0.2706:0.6038:0.1256	.	28	O75362	ZN217_HUMAN	V	28	ENSP00000360526:L28V;ENSP00000304308:L28V	ENSP00000304308:L28V	L	-	1	0	ZNF217	51632691	0.990000	0.36364	0.121000	0.21740	0.426000	0.31534	2.658000	0.46733	2.733000	0.93635	0.655000	0.94253	CTT		0.458	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2		NM_006526		41	55	0	0	0	0.00874	0	41	55		
FAM209A	200232	broad.mit.edu	37	20	55101119	55101119	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:55101119C>G	ENST00000371328.3	+	2	832	c.509C>G	c.(508-510)tCt>tGt	p.S170C	GCNT7_ENST00000243913.4_5'Flank|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	170						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											GAAGAAAGCTCTAGCTGAATG	0.408																																						uc002xxx.2		NaN																	0					0						c.(508-510)TCT>TGT		hypothetical protein LOC200232 precursor							92.0	90.0	91.0					20																	55101119		2203	4300	6503	SO:0001583	missense	200232					integral to membrane		g.chr20:55101119C>G	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.509C>G	20.37:g.55101119C>G	ENSP00000360379:p.Ser170Cys					GCNT7_uc010zzg.1_5'Flank|C20orf107_uc010zzh.1_Intron	p.S170C	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	Colorectal(105;0.202)		2	589	+			170			Cytoplasmic (Potential).		Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	c.509C>G	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	C	8.102	0.776937	0.16120	.	.	ENSG00000124103	ENST00000371328	T	0.13538	2.58	3.95	0.669	0.17918	.	0.942282	0.08752	N	0.898908	T	0.20659	0.0497	L	0.57536	1.79	0.09310	N	1	D	0.53885	0.963	P	0.49140	0.601	T	0.22382	-1.0218	10	0.49607	T	0.09	-9.5294	9.5254	0.39160	0.5568:0.4432:0.0:0.0	.	170	Q5JX71	CT106_HUMAN	C	170	ENSP00000360379:S170C	ENSP00000360379:S170C	S	+	2	0	C20orf106	54534526	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.311000	0.19380	-0.157000	0.11059	-0.500000	0.04577	TCT		0.408	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2				25	50	0	0	0	0.004656	0	25	50		
TPTE	7179	broad.mit.edu	37	21	10942758	10942758	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr21:10942758C>T	ENST00000361285.4	-	13	1012	c.683G>A	c.(682-684)aGg>aAg	p.R228K	TPTE_ENST00000342420.5_Missense_Mutation_p.R190K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.R210K	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	228	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTGTATCGCCTTTTGTTTTC	0.328																																						uc002yip.1		NaN																	0		p.I228V(1)		ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(682-684)AGG>AAG		transmembrane phosphatase with tensin homology							453.0	399.0	417.0					21																	10942758		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942758C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.683G>A	21.37:g.10942758C>T	ENSP00000355208:p.Arg228Lys					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.R210K|TPTE_uc002yir.1_Missense_Mutation_p.R190K|TPTE_uc010gkv.1_Missense_Mutation_p.R90K	p.R228K	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	13	1051	-			228			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.683G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	16.82	3.229651	0.58777	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.30448	1.53;1.53;1.53	2.73	2.73	0.32206	Phosphatase tensin type (1);	0.053839	0.64402	U	0.000001	T	0.51686	0.1689	M	0.74647	2.275	0.48901	D	0.999728	D;D;B	0.76494	0.999;0.999;0.226	D;D;B	0.81914	0.99;0.995;0.444	T	0.55250	-0.8170	10	0.51188	T	0.08	-5.1989	11.6651	0.51368	0.0:1.0:0.0:0.0	.	190;210;228	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	210;228;190	ENSP00000298232:R210K;ENSP00000355208:R228K;ENSP00000344441:R190K	ENSP00000298232:R210K	R	-	2	0	TPTE	9964629	1.000000	0.71417	0.914000	0.36105	0.562000	0.35680	6.163000	0.71880	1.470000	0.48102	0.194000	0.17425	AGG		0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1				90	510	0	0	0	0.01441	0	90	510		
UBASH3A	53347	broad.mit.edu	37	21	43867194	43867194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr21:43867194G>T	ENST00000319294.6	+	15	1907	c.1876G>T	c.(1876-1878)Gaa>Taa	p.E626*	UBASH3A_ENST00000398367.1_Silent_p.V515V|UBASH3A_ENST00000291535.6_Nonsense_Mutation_p.E588*	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	626	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E626K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGCTTCTGTGAAGAAAATAA	0.463																																						uc002zbe.2		NaN																	1	Substitution - Missense(1)		cervix(1)	ovary(3)	3						c.(1876-1878)GAA>TAA		ubiquitin associated and SH3 domain containing,							120.0	126.0	124.0					21																	43867194		2203	4300	6503	SO:0001587	stop_gained	53347					cytosol|nucleus		g.chr21:43867194G>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1876G>T	21.37:g.43867194G>T	ENSP00000317327:p.Glu626*					UBASH3A_uc002zbf.2_Nonsense_Mutation_p.E588*|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.V515V	p.E626*	NM_018961	NP_061834	P57075	UBS3A_HUMAN			15	1912	+			626			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Nonsense_Mutation	SNP	ENST00000319294.6	37	c.1876G>T	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	36	5.694038	0.96793	.	.	ENSG00000160185	ENST00000291535;ENST00000319294	.	.	.	4.46	3.55	0.40652	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-24.5556	10.1729	0.42922	0.0983:0.0:0.9017:0.0	.	.	.	.	X	588;626	.	ENSP00000291535:E588X	E	+	1	0	UBASH3A	42740263	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	3.334000	0.52097	2.296000	0.77279	0.563000	0.77884	GAA		0.463	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1		NM_001001895		69	167	1	0	1.02487e-32	0.01441	1.16152e-32	69	167		
PRAME	23532	broad.mit.edu	37	22	22892514	22892514	+	Missense_Mutation	SNP	A	A	G	rs140739353	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:22892514A>G	ENST00000398741.1	-	5	893	c.587T>C	c.(586-588)aTt>aCt	p.I196T	PRAME_ENST00000539862.1_Missense_Mutation_p.I180T|PRAME_ENST00000543184.1_Missense_Mutation_p.I196T|PRAME_ENST00000405655.3_Missense_Mutation_p.I196T|PRAME_ENST00000424204.2_Missense_Mutation_p.I180T|PRAME_ENST00000398743.2_Missense_Mutation_p.I196T|PRAME_ENST00000402697.1_Missense_Mutation_p.I196T|PRAME_ENST00000485532.1_5'Flank	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	196					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.I196T(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CACTTTCTCAATGAGGTAGGA	0.458													A|||	2	0.000399361	0.0	0.0	5008	,	,		19815	0.0		0.002	False		,,,				2504	0.0				Melanoma(73;1707 1838 15168 27201)	uc002zwf.2		NaN																	1	Substitution - Missense(1)		skin(1)	central_nervous_system(2)	2						c.(586-588)ATT>ACT		preferentially expressed antigen in melanoma		A	THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE	0,4406		0,0,2203	154.0	146.0	148.0		587,587,587,587,587	3.2	0.0	22	dbSNP_134	148	3,8597		0,3,4297	yes	missense,missense,missense,missense,missense	PRAME	NM_006115.3,NM_206953.1,NM_206954.1,NM_206955.1,NM_206956.1	89,89,89,89,89	0,3,6500	GG,GA,AA		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	196/510,196/510,196/510,196/510,196/510	22892514	3,13003	2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22892514A>G	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.587T>C	22.37:g.22892514A>G	ENSP00000381726:p.Ile196Thr					LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.I180T|PRAME_uc010gtr.2_Missense_Mutation_p.I196T|PRAME_uc002zwg.2_Missense_Mutation_p.I196T|PRAME_uc002zwh.2_Missense_Mutation_p.I196T|PRAME_uc002zwi.2_Missense_Mutation_p.I196T|PRAME_uc002zwj.2_Missense_Mutation_p.I196T|PRAME_uc002zwk.2_Missense_Mutation_p.I196T	p.I196T	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	4	743	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	196					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.587T>C	CCDS13801.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	12.46	1.945652	0.34377	0.0	3.49E-4	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204;ENST00000439106	T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	3.24	3.24	0.37175	.	1.278720	0.05507	N	0.559414	T	0.21307	0.0513	L	0.47716	1.5	0.09310	N	1	P	0.45902	0.868	P	0.48873	0.593	T	0.20371	-1.0277	10	0.72032	D	0.01	.	8.2444	0.31680	1.0:0.0:0.0:0.0	.	196	P78395	PRAME_HUMAN	T	196;196;196;196;180;196;180;196	ENSP00000381728:I196T;ENSP00000445675:I196T;ENSP00000381726:I196T;ENSP00000384343:I196T;ENSP00000445097:I180T;ENSP00000385198:I196T;ENSP00000407342:I180T;ENSP00000407320:I196T	ENSP00000381726:I196T	I	-	2	0	PRAME	21222514	0.058000	0.20735	0.001000	0.08648	0.001000	0.01503	2.845000	0.48254	1.713000	0.51359	0.533000	0.62120	ATT		0.458	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1		NM_206953		57	85	0	0	0	0.01441	0	57	85		
EP300	2033	broad.mit.edu	37	22	41553350	41553350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:41553350G>T	ENST00000263253.7	+	18	4658	c.3439G>T	c.(3439-3441)Gag>Tag	p.E1147*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1147					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAGCTCTCTGAGGTCTTTGA	0.403			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(3439-3441)GAG>TAG		E1A binding protein p300							103.0	101.0	101.0					22																	41553350		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41553350G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3439G>T	22.37:g.41553350G>T	ENSP00000263253:p.Glu1147*						p.E1147*	NM_001429	NP_001420	Q09472	EP300_HUMAN			18	3834	+			1147					B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.3439G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	51	18.114223	0.99899	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.7	5.7	0.88788	.	0.000000	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.4845	19.8463	0.96708	0.0:0.0:1.0:0.0	.	.	.	.	X	1147	.	ENSP00000263253:E1147X	E	+	1	0	EP300	39883296	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	GAG		0.403	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		48	53	1	0	1.23713e-20	0.01441	1.36486e-20	48	53		
TTLL3	26140	broad.mit.edu	37	3	9862298	9862298	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:9862298C>G	ENST00000547186.1	+	7	814	c.598C>G	c.(598-600)Ctg>Gtg	p.L200V	ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.L261V|TTLL3_ENST00000455274.1_5'UTR|TTLL3_ENST00000383827.1_5'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.L343V|TTLL3_ENST00000430793.1_5'UTR|TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000397241.1_5'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	200	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GGATGAAGCTCTGTGTGCGTG	0.582																																						uc003btg.2		NaN																	0				large_intestine(2)	2						c.(598-600)CTG>GTG		tubulin tyrosine ligase-like family, member 3							174.0	166.0	169.0					3																	9862298		2203	4300	6503	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9862298C>G		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.598C>G	3.37:g.9862298C>G	ENSP00000446659:p.Leu200Val					ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.L167V|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.L136V|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.L136V|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR	p.L200V	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			7	814	+	Medulloblastoma(99;0.227)		200			TTL.		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.598C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.20|17.20	3.328706|3.328706	0.60743|0.60743	.|.	.|.	ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021|ENSG00000214021	ENST00000397256;ENST00000426895;ENST00000547186;ENST00000443148|ENST00000310252;ENST00000452823	T;T;T;T|.	0.05996|.	3.36;3.38;3.5;3.52|.	4.88|4.88	4.01|4.01	0.46588|0.46588	.|.	0.289577|.	0.18604|.	U|.	0.136357|.	T|T	0.63129|0.63129	0.2485|0.2485	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	P;P|.	0.42584|.	0.784;0.781|.	B;P|.	0.44732|.	0.41;0.459|.	T|T	0.61397|0.61397	-0.7071|-0.7071	10|5	0.36615|.	T|.	0.2|.	.|.	10.4581|10.4581	0.44563|0.44563	0.0:0.9087:0.0:0.0913|0.0:0.9087:0.0:0.0913	.|.	139;200|.	B4DM47;Q9Y4R7|.	.;TTLL3_HUMAN|.	V|C	261;343;200;138|155;117	ENSP00000380427:L261V;ENSP00000392549:L343V;ENSP00000446659:L200V;ENSP00000398097:L138V|.	ENSP00000380427:L261V|.	L|S	+|+	1|2	2|0	ARPC4-TTLL3;TTLL3|TTLL3	9837298|9837298	0.090000|0.090000	0.21635|0.21635	0.993000|0.993000	0.49108|0.49108	0.940000|0.940000	0.58332|0.58332	0.478000|0.478000	0.22212|0.22212	1.274000|1.274000	0.44362|0.44362	0.579000|0.579000	0.79373|0.79373	CTG|TCT		0.582	TTLL3-203	KNOWN	basic	protein_coding	protein_coding			NM_001025930.2		66	202	0	0	0	0.01441	0	66	202		
PPARG	5468	broad.mit.edu	37	3	12447409	12447409	+	Silent	SNP	C	C	A	rs369534657		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:12447409C>A	ENST00000287820.6	+	5	769	c.648C>A	c.(646-648)gcC>gcA	p.A216A	PPARG_ENST00000539812.1_Silent_p.A186A|PPARG_ENST00000397015.2_Silent_p.A188A|PPARG_ENST00000397010.2_Silent_p.A188A|PPARG_ENST00000397000.1_Silent_p.A188A|PPARG_ENST00000309576.6_Silent_p.A188A|PPARG_ENST00000397012.2_Silent_p.A188A|PPARG_ENST00000397026.2_Silent_p.A194A	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	216	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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 blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TGCCACAGGCCGAGAAGGAGA	0.517			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															uc003bwx.2		NaN		Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension	E	PAX8		follicular thyroid		0				ovary(1)|kidney(1)	2						c.(646-648)GCC>GCA		peroxisome proliferative activated receptor	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						71.0	70.0	70.0					3																	12447409		2203	4300	6503	SO:0001819	synonymous_variant	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12447409C>A	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.648C>A	3.37:g.12447409C>A						PPARG_uc003bwr.2_Silent_p.A188A|PPARG_uc003bws.2_Silent_p.A188A|PPARG_uc003bwu.2_Silent_p.A188A|PPARG_uc003bwv.2_Silent_p.A188A|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Silent_p.A188A|PPARG_uc003bwt.1_Silent_p.A188A|PPARG_uc003bww.1_Silent_p.A216A	p.A216A	NM_015869	NP_056953	P37231	PPARG_HUMAN			5	739	+			216			Interaction with FAM120B (By similarity).		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	ENST00000287820.6	37	c.648C>A	CCDS2609.1																																																																																				0.517	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2		NM_005037		22	120	1	0	2.98393e-07	0.00278	3.11729e-07	22	120		
FBLN2	2199	broad.mit.edu	37	3	13660497	13660497	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:13660497C>T	ENST00000295760.7	+	7	2102	c.2033C>T	c.(2032-2034)cCg>cTg	p.P678L	FBLN2_ENST00000492059.1_Missense_Mutation_p.P678L|FBLN2_ENST00000404922.3_Missense_Mutation_p.P678L|FBLN2_ENST00000535798.1_Missense_Mutation_p.P704L	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	678					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGCCACTGCCGCAGCCCAAT	0.622																																						uc011avb.1		NaN																	0				ovary(1)	1						c.(2032-2034)CCG>CTG		fibulin 2 isoform b precursor							23.0	28.0	27.0					3																	13660497		1960	4163	6123	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13660497C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2033C>T	3.37:g.13660497C>T	ENSP00000295760:p.Pro678Leu					FBLN2_uc011auz.1_Missense_Mutation_p.P704L|FBLN2_uc011ava.1_Missense_Mutation_p.P678L|FBLN2_uc011avc.1_Missense_Mutation_p.P678L	p.P678L	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		7	2158	+			678					B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2033C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829283	0.32329	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.80033	-1.33;-1.25;-1.24;-1.25	4.61	2.81	0.32909	.	0.629622	0.15794	N	0.244312	D	0.84097	0.5397	L	0.60455	1.87	0.21147	N	0.999774	D;D;D	0.89917	0.979;1.0;1.0	B;D;D	0.71870	0.194;0.975;0.975	T	0.71314	-0.4630	10	0.27785	T	0.31	.	7.2377	0.26079	0.0:0.7976:0.0:0.2024	.	678;678;704	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	L	704;678;678;678	ENSP00000445705:P704L;ENSP00000384169:P678L;ENSP00000295760:P678L;ENSP00000420042:P678L	ENSP00000295760:P678L	P	+	2	0	FBLN2	13635498	0.928000	0.31464	0.089000	0.20774	0.033000	0.12548	3.493000	0.53266	0.668000	0.31126	0.643000	0.83706	CCG		0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3		NM_001004019		7	19	0	0	0	0.001984	0	7	19		
ZNF385D	79750	broad.mit.edu	37	3	21552450	21552450	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:21552450C>T	ENST00000281523.2	-	4	860	c.342G>A	c.(340-342)atG>atA	p.M114I	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	114						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.M114I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTTATTTTTCATGGCTTCCA	0.463																																						uc003cce.2		NaN																	1	Substitution - Missense(1)		skin(1)	large_intestine(2)|skin(2)|ovary(1)	5						c.(340-342)ATG>ATA		zinc finger protein 385D							302.0	247.0	266.0					3																	21552450		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21552450C>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.342G>A	3.37:g.21552450C>T	ENSP00000281523:p.Met114Ile					ZNF385D_uc010hfb.1_RNA	p.M114I	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			4	750	-			114						Missense_Mutation	SNP	ENST00000281523.2	37	c.342G>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267131	0.59540	.	.	ENSG00000151789	ENST00000281523	T	0.41065	1.01	5.56	5.56	0.83823	.	0.101627	0.64402	D	0.000002	T	0.27765	0.0683	N	0.08118	0	0.38736	D	0.953786	B	0.09022	0.002	B	0.08055	0.003	T	0.08166	-1.0735	10	0.29301	T	0.29	-5.3924	19.5451	0.95291	0.0:1.0:0.0:0.0	.	114	Q9H6B1	Z385D_HUMAN	I	114	ENSP00000281523:M114I	ENSP00000281523:M114I	M	-	3	0	ZNF385D	21527454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.867000	0.56047	2.617000	0.88574	0.645000	0.84053	ATG		0.463	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1		NM_024697		72	75	0	0	0	0.01441	0	72	75		
XYLB	9942	broad.mit.edu	37	3	38401846	38401846	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:38401846C>G	ENST00000207870.3	+	3	247	c.157C>G	c.(157-159)Cat>Gat	p.H53D	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	53					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GGGTGGTGTTCATGTGCACAA	0.532																																						uc003cic.2		NaN																	0				ovary(1)	1						c.(157-159)CAT>GAT		xylulokinase							249.0	198.0	215.0					3																	38401846		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38401846C>G	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.157C>G	3.37:g.38401846C>G	ENSP00000207870:p.His53Asp					XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_5'UTR	p.H53D	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	3	266	+			53					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.157C>G	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056757	0.76074	.	.	ENSG00000093217	ENST00000207870	T	0.14766	2.48	5.32	5.32	0.75619	Carbohydrate kinase, FGGY, N-terminal (1);	0.051869	0.85682	D	0.000000	T	0.33760	0.0874	M	0.84585	2.705	0.80722	D	1	P	0.40211	0.707	P	0.49421	0.61	T	0.03898	-1.0994	10	0.38643	T	0.18	.	16.8724	0.86043	0.0:1.0:0.0:0.0	.	53	O75191	XYLB_HUMAN	D	53	ENSP00000207870:H53D	ENSP00000207870:H53D	H	+	1	0	XYLB	38376850	1.000000	0.71417	0.868000	0.34077	0.987000	0.75469	2.220000	0.42908	2.664000	0.90586	0.655000	0.94253	CAT		0.532	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2		NM_005108		93	96	0	0	0	0.01441	0	93	96		
ZNF662	389114	broad.mit.edu	37	3	42954704	42954704	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:42954704C>G	ENST00000541208.1	+	4	532	c.163C>G	c.(163-165)Cta>Gta	p.L55V	ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.L55V|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	55					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(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ATATCCATTTCTAAAGCCTGC	0.498																																						uc003cmi.2		NaN																	0					0						c.(163-165)CTA>GTA		zinc finger protein 662 isoform 1							66.0	70.0	69.0					3																	42954704		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42954704C>G	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.163C>G	3.37:g.42954704C>G	ENSP00000446208:p.Leu55Val					ZNF662_uc003cmk.2_Intron|ZNF662_uc003cmj.2_Intron	p.L55V	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	4	515	+			55					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.163C>G	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.494822	0.00159	.	.	ENSG00000182983	ENST00000440367;ENST00000541208	T;T	0.49720	0.77;0.77	3.17	0.177	0.15054	.	.	.	.	.	T	0.29321	0.0730	L	0.34521	1.04	0.21719	N	0.999578	B	0.14012	0.009	B	0.15870	0.014	T	0.20075	-1.0286	9	0.22706	T	0.39	.	2.8979	0.05696	0.0:0.4623:0.2461:0.2916	.	55	Q6ZS27	ZN662_HUMAN	V	55	ENSP00000405047:L55V;ENSP00000446208:L55V	ENSP00000405047:L55V	L	+	1	2	ZNF662	42929708	0.002000	0.14202	0.991000	0.47740	0.018000	0.09664	0.009000	0.13219	0.150000	0.19136	0.563000	0.77884	CTA		0.498	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4		NM_207404		16	56	0	0	0	0.004007	0	16	56		
CCR5	1234	broad.mit.edu	37	3	46415295	46415295	+	Missense_Mutation	SNP	G	G	A	rs1800943		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:46415295G>A	ENST00000292303.4	+	2	1048	c.902G>A	c.(901-903)gGg>gAg	p.G301E	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.G301E|CCR5_ENST00000343801.4_Missense_Mutation_p.G301E	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	301			G -> V (in dbSNP:rs1800943). {ECO:0000269|PubMed:9399903}.		calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCCTTTGTCGGGGAGAAGTTC	0.483																																						uc003cpo.3		NaN																	0				lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(901-903)GGG>GAG		chemokine (C-C motif) receptor 5	Maraviroc(DB04835)						206.0	199.0	202.0					3																	46415295		2203	4296	6499	SO:0001583	missense	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46415295G>A		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.902G>A	3.37:g.46415295G>A	ENSP00000292303:p.Gly301Glu					CCR5_uc010hjd.2_Missense_Mutation_p.G301E	p.G301E	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	1024	+			301			Helical; Name=7; (Potential).		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	c.902G>A	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021996	0.93462	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.38401	1.14;1.14;1.14	5.69	5.69	0.88448	.	0.000000	0.51477	U	0.000096	T	0.72317	0.3445	H	0.94462	3.54	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.80301	-0.1440	10	0.87932	D	0	.	19.809	0.96540	0.0:0.0:1.0:0.0	.	301	P51681	CCR5_HUMAN	E	301;281;301;301	ENSP00000343985:G301E;ENSP00000292303:G301E;ENSP00000404881:G301E	ENSP00000292303:G301E	G	+	2	0	CCR5	46390299	1.000000	0.71417	0.983000	0.44433	0.945000	0.59286	9.869000	0.99810	2.676000	0.91093	0.561000	0.74099	GGG		0.483	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2		NM_000579		293	290	0	0	0	0.01441	0	293	290		
NBEAL2	23218	broad.mit.edu	37	3	47040469	47040469	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:47040469G>A	ENST00000450053.3	+	24	3584	c.3405G>A	c.(3403-3405)ctG>ctA	p.L1135L	NBEAL2_ENST00000383740.2_De_novo_Start_InFrame|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1135	Leu-rich.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGCTGGACCTGCTGCTGGCCC	0.667											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cqp.2		NaN																	0				ovary(1)	1						c.(3403-3405)CTG>CTA		neurobeachin-like 2							36.0	43.0	41.0					3																	47040469		2167	4253	6420	SO:0001819	synonymous_variant	23218						binding	g.chr3:47040469G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3405G>A	3.37:g.47040469G>A			OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	NBEAL2_uc010hjm.1_Intron|NBEAL2_uc010hjn.1_5'Flank	p.L1135L	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	24	3584	+		Acute lymphoblastic leukemia(5;0.0534)	1135			Leu-rich.		O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.3405G>A	CCDS46817.1																																																																																				0.667	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3		XM_291064		5	16	0	0	0	0.000602	0	5	16		
BSN	8927	broad.mit.edu	37	3	49692495	49692495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:49692495G>T	ENST00000296452.4	+	5	5620	c.5506G>T	c.(5506-5508)Gag>Tag	p.E1836*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1836					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCAGTGCCAGAGCCAGGTGC	0.622																																						uc003cxe.3		NaN																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(5506-5508)GAG>TAG		bassoon protein							43.0	48.0	46.0					3																	49692495		2203	4299	6502	SO:0001587	stop_gained	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49692495G>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5506G>T	3.37:g.49692495G>T	ENSP00000296452:p.Glu1836*						p.E1836*	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	5620	+			1836					O43161|Q7LGH3	Nonsense_Mutation	SNP	ENST00000296452.4	37	c.5506G>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	42	9.666746	0.99233	.	.	ENSG00000164061	ENST00000296452	.	.	.	5.2	5.2	0.72013	.	0.357106	0.29775	N	0.011238	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	18.7148	0.91671	0.0:0.0:1.0:0.0	.	.	.	.	X	1836	.	ENSP00000296452:E1836X	E	+	1	0	BSN	49667499	0.995000	0.38212	0.999000	0.59377	0.332000	0.28634	3.444000	0.52914	2.435000	0.82474	0.491000	0.48974	GAG		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458		33	114	1	0	7.11191e-15	0.013726	7.70972e-15	33	114		
DOCK3	1795	broad.mit.edu	37	3	51264853	51264853	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:51264853G>A	ENST00000266037.9	+	16	1540	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	506	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCCACCTGCGCTTTGAGTTC	0.468																																						uc011bds.1		NaN																	0					0						c.(1516-1518)CGC>CAC		dedicator of cytokinesis 3							85.0	82.0	83.0					3																	51264853		1834	4078	5912	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51264853G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1517G>A	3.37:g.51264853G>A	ENSP00000266037:p.Arg506His						p.R506H	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	16	1540	+			506			DHR-1.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1517G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583083	0.96578	.	.	ENSG00000088538	ENST00000266037	T	0.14893	2.47	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61317	-0.7087	10	0.62326	D	0.03	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	506	Q8IZD9	DOCK3_HUMAN	H	506	ENSP00000266037:R506H	ENSP00000266037:R506H	R	+	2	0	DOCK3	51239893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.808000	0.96608	0.650000	0.86243	CGC		0.468	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5		NM_004947		82	103	0	0	0	0.01441	0	82	103		
RAD54L2	23132	broad.mit.edu	37	3	51673632	51673632	+	Silent	SNP	C	C	T	rs139263625	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:51673632C>T	ENST00000409535.2	+	12	2183	c.2058C>T	c.(2056-2058)ggC>ggT	p.G686G	RAD54L2_ENST00000296477.3_Silent_p.G380G	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	686						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCCTACAGGGCGTTGGCTTCA	0.517													C|||	8	0.00159744	0.0045	0.0029	5008	,	,		22579	0.0		0.0	False		,,,				2504	0.0					uc011bdt.1		NaN																	0				ovary(3)	3						c.(2056-2058)GGC>GGT		RAD54-like 2		C		14,4392	21.2+/-45.6	0,14,2189	73.0	62.0	66.0		2058	-1.7	0.9	3	dbSNP_134	66	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RAD54L2	NM_015106.2		0,15,6487	TT,TC,CC		0.0116,0.3177,0.1153		686/1468	51673632	15,12989	2203	4299	6502	SO:0001819	synonymous_variant	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51673632C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.2058C>T	3.37:g.51673632C>T						RAD54L2_uc003dbh.2_Silent_p.G277G|RAD54L2_uc011bdu.1_Silent_p.G380G|RAD54L2_uc003dbj.2_Silent_p.G12G	p.G686G	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	12	2183	+			686					Q8TB57|Q9BV54	Silent	SNP	ENST00000409535.2	37	c.2058C>T	CCDS33765.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	8.326	0.825385	0.16749	0.003177	1.16E-4	ENSG00000164080	ENST00000432863	.	.	.	5.78	-1.72	0.08107	.	.	.	.	.	T	0.39118	0.1066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24083	-1.0170	4	.	.	.	-17.8155	1.2451	0.01971	0.2663:0.0943:0.2261:0.4133	.	.	.	.	C	515	.	.	R	+	1	0	RAD54L2	51648672	0.003000	0.15002	0.938000	0.37757	0.974000	0.67602	-1.344000	0.02639	-0.738000	0.04817	-0.823000	0.03104	CGT		0.517	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2		NM_015106		8	41	0	0	0	0.006214	0	8	41		
FLNB	2317	broad.mit.edu	37	3	58095302	58095302	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:58095302G>A	ENST00000295956.4	+	15	2364		c.e15-1		FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000357272.4_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000358537.3_Splice_Site	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTCTTCTCTAGGTCAACATCG	0.458																																						uc003djj.2		NaN																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.e15-1		filamin B isoform 2							111.0	109.0	109.0					3																	58095302		2203	4300	6503	SO:0001630	splice_region_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58095302G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2200-1G>A	3.37:g.58095302G>A						FLNB_uc010hne.2_Splice_Site_p.V734_splice|FLNB_uc003djk.2_Splice_Site_p.V734_splice|FLNB_uc010hnf.2_Splice_Site_p.V734_splice|FLNB_uc003djl.2_Splice_Site_p.V565_splice|FLNB_uc003djm.2_Splice_Site_p.V565_splice	p.V734_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	15	2365	+								B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Splice_Site	SNP	ENST00000295956.4	37	c.2200_splice	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252710	0.80135	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4738	0.94976	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNB	58070342	1.000000	0.71417	0.999000	0.59377	0.760000	0.43138	9.750000	0.98875	2.622000	0.88805	0.655000	0.94253	.		0.458	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457	Intron	74	90	0	0	0	0.01441	0	74	90		
ROBO2	6092	broad.mit.edu	37	3	77637928	77637928	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:77637928G>C	ENST00000461745.1	+	17	3427	c.2527G>C	c.(2527-2529)Gaa>Caa	p.E843Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.E859Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.E843Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	843					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTCATTACTGAAAACAATAA	0.373																																						uc003dpy.3		NaN																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(2527-2529)GAA>CAA		roundabout, axon guidance receptor, homolog 2							131.0	119.0	123.0					3																	77637928		1854	4101	5955	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77637928G>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2527G>C	3.37:g.77637928G>C	ENSP00000417164:p.Glu843Gln					ROBO2_uc003dpz.2_Missense_Mutation_p.E847Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.E847Q|ROBO2_uc003dqa.2_5'UTR	p.E843Q	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	17	3170	+			843			Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2527G>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441298	0.83993	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.62639	0.01;0.05;0.04	5.65	5.65	0.86999	.	0.000000	0.47455	D	0.000240	T	0.66297	0.2775	L	0.54323	1.7	0.31274	N	0.6914199999999999	P;P;P	0.40638	0.725;0.713;0.725	B;P;B	0.44990	0.201;0.466;0.276	T	0.63328	-0.6662	9	0.33141	T	0.24	.	19.7364	0.96208	0.0:0.0:1.0:0.0	.	859;843;843	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	859;859;863;843;843	ENSP00000417335:E859Q;ENSP00000417164:E843Q;ENSP00000327536:E843Q	ENSP00000327536:E843Q	E	+	1	0	ROBO2	77720618	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.303000	0.96183	2.661000	0.90470	0.650000	0.86243	GAA		0.373	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		XM_031246		45	57	0	0	0	0.009718	0	45	57		
IMPG2	50939	broad.mit.edu	37	3	100962599	100962599	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:100962599T>C	ENST00000193391.7	-	13	2763	c.2576A>G	c.(2575-2577)aAt>aGt	p.N859S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	859					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AACCTTGCCATTTTGCTCTTG	0.448																																						uc003duq.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2575-2577)AAT>AGT		interphotoreceptor matrix proteoglycan 2							206.0	190.0	195.0					3																	100962599		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100962599T>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2576A>G	3.37:g.100962599T>C	ENSP00000193391:p.Asn859Ser					IMPG2_uc011bhe.1_Missense_Mutation_p.N722S	p.N859S	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			13	2779	-			859			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2576A>G	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	T	6.477	0.456245	0.12283	.	.	ENSG00000081148	ENST00000193391	T	0.18016	2.24	5.54	-0.885	0.10593	.	0.572673	0.18605	N	0.136329	T	0.05868	0.0153	N	0.08118	0	0.21064	N	0.999792	B;B	0.14438	0.01;0.005	B;B	0.06405	0.002;0.002	T	0.41215	-0.9521	10	0.10636	T	0.68	-2.8753	5.8608	0.18745	0.1269:0.4198:0.0:0.4532	.	859;859	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	S	859	ENSP00000193391:N859S	ENSP00000193391:N859S	N	-	2	0	IMPG2	102445289	0.998000	0.40836	0.998000	0.56505	0.975000	0.68041	0.378000	0.20569	0.063000	0.16370	0.374000	0.22700	AAT		0.448	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3				51	90	0	0	0	0.01441	0	51	90		
BBX	56987	broad.mit.edu	37	3	107435578	107435578	+	Missense_Mutation	SNP	C	C	T	rs376164348		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:107435578C>T	ENST00000325805.8	+	5	574	c.287C>T	c.(286-288)tCt>tTt	p.S96F	BBX_ENST00000402543.1_Missense_Mutation_p.S96F|BBX_ENST00000406780.1_Missense_Mutation_p.S96F|BBX_ENST00000415149.2_Missense_Mutation_p.S96F|BBX_ENST00000416476.2_Missense_Mutation_p.S96F			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	96					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CGCCATCGCTCTCTTGTACGT	0.463																																						uc010hpr.2		NaN																	0				ovary(3)|skin(1)	4						c.(286-288)TCT>TTT		HMG-BOX transcription factor BBX isoform 1							161.0	149.0	153.0					3																	107435578		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107435578C>T	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.287C>T	3.37:g.107435578C>T	ENSP00000319974:p.Ser96Phe					BBX_uc003dwk.3_Missense_Mutation_p.S96F|BBX_uc003dwl.3_Missense_Mutation_p.S96F|BBX_uc010hps.1_Missense_Mutation_p.S117F|BBX_uc003dwm.3_Missense_Mutation_p.S96F	p.S96F	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		5	614	+			96			HMG box.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.287C>T	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706004	0.89018	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000449335;ENST00000458458;ENST00000437908;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449271;ENST00000449213;ENST00000429270	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98060	-4.69;-4.69;-4.69;-4.69;-4.69;-3.38;-3.38;-4.69;-4.69;-4.69;-3.38;-3.38;-4.69;-4.69	5.06	5.06	0.68205	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.050871	0.85682	D	0.000000	D	0.98601	0.9532	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;0.993	D;D;D;D	0.97110	0.999;1.0;0.992;0.989	D	0.99851	1.1071	10	0.87932	D	0	-1.521	18.8003	0.92013	0.0:1.0:0.0:0.0	.	96;96;96;96	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	F	96	ENSP00000408358:S96F;ENSP00000385317:S96F;ENSP00000319974:S96F;ENSP00000413320:S96F;ENSP00000403860:S96F;ENSP00000408297:S96F;ENSP00000404654:S96F;ENSP00000413274:S96F;ENSP00000385518:S96F;ENSP00000385530:S96F;ENSP00000403806:S96F;ENSP00000406554:S96F;ENSP00000407662:S96F;ENSP00000414673:S96F	ENSP00000319974:S96F	S	+	2	0	BBX	108918268	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.445000	0.80570	2.506000	0.84524	0.460000	0.39030	TCT		0.463	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1		NM_020235		111	68	0	0	0	0.01441	0	111	68		
PHLDB2	90102	broad.mit.edu	37	3	111664202	111664202	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:111664202G>C	ENST00000431670.2	+	9	2896	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q	PHLDB2_ENST00000481953.1_Missense_Mutation_p.E786Q|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E786Q|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E415Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E813Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E829Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	829						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TACTTTAAAAGAGGTAAGCTA	0.348																																						uc010hqa.2		NaN																	0				ovary(4)|skin(2)	6						c.(2485-2487)GAG>CAG		pleckstrin homology-like domain, family B,							54.0	59.0	57.0					3																	111664202		2203	4299	6502	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111664202G>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2485G>C	3.37:g.111664202G>C	ENSP00000405405:p.Glu829Gln					PHLDB2_uc003dyc.2_Missense_Mutation_p.E813Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.E786Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.E829Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.E786Q|PHLDB2_uc003dyi.2_Missense_Mutation_p.E415Q	p.E829Q	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			9	2896	+			829					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.2485G>C	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482283	0.84747	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.48201	0.9;0.85;0.91;0.91;0.85;0.91;0.82	5.76	5.76	0.90799	.	0.299086	0.31358	N	0.007793	T	0.69468	0.3114	M	0.73962	2.25	0.58432	D	0.999991	P;D;D;D	0.89917	0.768;0.999;1.0;1.0	B;D;D;D	0.76575	0.418;0.942;0.988;0.988	T	0.71935	-0.4442	10	0.87932	D	0	.	16.8739	0.86046	0.0:0.0:1.0:0.0	.	415;829;786;813	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	Q	813;813;829;786;786;829;786;415	ENSP00000377500:E813Q;ENSP00000405405:E829Q;ENSP00000405292:E786Q;ENSP00000418296:E786Q;ENSP00000377502:E829Q;ENSP00000418319:E786Q;ENSP00000420303:E415Q	ENSP00000352764:E813Q	E	+	1	0	PHLDB2	113146892	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.954000	0.87848	2.721000	0.93114	0.655000	0.94253	GAG		0.348	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1		NM_145753		27	20	0	0	0	0.007291	0	27	20		
GTPBP8	29083	broad.mit.edu	37	3	112710056	112710056	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:112710056C>T	ENST00000383678.2	+	1	292	c.210C>T	c.(208-210)atC>atT	p.I70I	GTPBP8_ENST00000467752.1_5'Flank|GTPBP8_ENST00000383677.3_Silent_p.I70I|RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000473129.1_5'Flank	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	70					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						ACCTGCGTATCTTTGACCCAA	0.622																																						uc003dzn.2		NaN																	0					0						c.(208-210)ATC>ATT		GTP-binding protein 8 isoform 1							50.0	49.0	49.0					3																	112710056		2203	4300	6503	SO:0001819	synonymous_variant	29083				barrier septum formation		GTP binding	g.chr3:112710056C>T	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.210C>T	3.37:g.112710056C>T						GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Silent_p.I70I	p.I70I	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN			1	257	+			70					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Silent	SNP	ENST00000383678.2	37	c.210C>T	CCDS33820.1																																																																																				0.622	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2		NM_014170		25	48	0	0	0	0.004656	0	25	48		
PLA1A	51365	broad.mit.edu	37	3	119344030	119344030	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119344030G>A	ENST00000273371.4	+	9	1144	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	PLA1A_ENST00000495992.1_Missense_Mutation_p.E342K|PLA1A_ENST00000494440.1_Missense_Mutation_p.E342K|PLA1A_ENST00000488919.1_Missense_Mutation_p.E185K	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	358					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACCAACATCGAGGTTACCTT	0.483																																						uc003ecu.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1072-1074)GAG>AAG		phospholipase A1 member A precursor							202.0	153.0	170.0					3																	119344030		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119344030G>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.1072G>A	3.37:g.119344030G>A	ENSP00000273371:p.Glu358Lys					PLA1A_uc003ecv.2_Missense_Mutation_p.E342K|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.E185K	p.E358K	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			9	1111	+			358					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.1072G>A	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.479261	0.01035	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440	D;D;D;D	0.93133	-2.59;-3.17;-2.58;-2.68	4.86	-1.43	0.08884	.	1.276940	0.04974	N	0.464379	D	0.83622	0.5294	N	0.17082	0.46	0.09310	N	1	B;B	0.15930	0.015;0.009	B;B	0.10450	0.005;0.002	T	0.72265	-0.4344	10	0.07175	T	0.84	-2.0074	4.8343	0.13456	0.3848:0.0:0.4741:0.1411	.	342;358	Q53H76-3;Q53H76	.;PLA1A_HUMAN	K	358;185;342;342	ENSP00000273371:E358K;ENSP00000420625:E185K;ENSP00000417326:E342K;ENSP00000418793:E342K	ENSP00000273371:E358K	E	+	1	0	PLA1A	120826720	0.150000	0.22732	0.000000	0.03702	0.235000	0.25334	0.836000	0.27545	-0.408000	0.07565	-0.137000	0.14449	GAG		0.483	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2				51	27	0	0	0	0.01441	0	51	27		
MAATS1	89876	broad.mit.edu	37	3	119456222	119456222	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119456222G>C	ENST00000273390.5	+	11	1431	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)											GGCACTGTTGGATAAGAAGAA	0.338																																						uc003ede.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(1354-1356)GAT>CAT		AAT1-alpha							57.0	60.0	59.0					3																	119456222		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119456222G>C	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1354G>C	3.37:g.119456222G>C	ENSP00000273390:p.Asp452His					C3orf15_uc010hqy.1_Missense_Mutation_p.D452H|C3orf15_uc010hqz.2_Missense_Mutation_p.D390H|C3orf15_uc011bjd.1_Missense_Mutation_p.D326H|C3orf15_uc011bje.1_Missense_Mutation_p.D432H|C3orf15_uc010hra.1_Missense_Mutation_p.D213H	p.D452H	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	11	1431	+			Error:Variant_position_missing_in_Q7Z4T9_after_alignment					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1354G>C	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.278068	0.40294	.	.	ENSG00000183833	ENST00000273390	T	0.22743	1.94	5.27	4.39	0.52855	.	0.402007	0.29410	N	0.012230	T	0.31136	0.0787	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.50617	0.928;0.697;0.911;0.937	P;B;P;P	0.55999	0.564;0.428;0.487;0.789	T	0.02464	-1.1155	10	0.49607	T	0.09	-2.7396	13.9308	0.63994	0.0738:0.0:0.9262:0.0	.	213;390;452;452	Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	.;.;.;.	H	452	ENSP00000273390:D452H	ENSP00000273390:D452H	D	+	1	0	C3orf15	120938912	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	3.936000	0.56568	1.351000	0.45789	0.491000	0.48974	GAT		0.338	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1		NM_033364		21	68	0	0	0	0.010504	0	21	68		
MAATS1	89876	broad.mit.edu	37	3	119456227	119456227	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119456227G>A	ENST00000273390.5	+	11	1436	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)											TGTTGGATAAGAAGAATAAAG	0.348																																						uc003ede.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(1357-1359)AAG>AAA		AAT1-alpha							60.0	62.0	61.0					3																	119456227		2203	4300	6503	SO:0001819	synonymous_variant	89876					mitochondrion	protein binding	g.chr3:119456227G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1359G>A	3.37:g.119456227G>A						C3orf15_uc010hqy.1_Silent_p.K453K|C3orf15_uc010hqz.2_Silent_p.K391K|C3orf15_uc011bjd.1_Silent_p.K327K|C3orf15_uc011bje.1_Silent_p.K433K|C3orf15_uc010hra.1_Silent_p.K214K	p.K453K	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	11	1436	+			Error:Variant_position_missing_in_Q7Z4T9_after_alignment					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.1359G>A	CCDS2994.1																																																																																				0.348	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1		NM_033364		20	69	0	0	0	0.008871	0	20	69		
IQCJ	654502	broad.mit.edu	37	3	158983102	158983102	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:158983102C>T	ENST00000451172.1	+	5	495	c.390C>T	c.(388-390)ctC>ctT	p.L130L	IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ_ENST00000482126.1_Silent_p.L103L|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	130										cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TGATTCTTCTCTACCTTGACC	0.512																																						uc003fcp.1		NaN																	0					0						c.(388-390)CTC>CTT		IQ motif containing J isoform CaMBPv1							142.0	139.0	140.0					3																	158983102		1916	4127	6043	SO:0001819	synonymous_variant	654502							g.chr3:158983102C>T	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.390C>T	3.37:g.158983102C>T						SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Silent_p.L103L	p.L130L	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		5	495	+			130					B7ZMM2|B9EH97|Q1A5X5	Silent	SNP	ENST00000451172.1	37	c.390C>T	CCDS46946.1																																																																																				0.512	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1		NM_001042705.1		74	58	0	0	0	0.01441	0	74	58		
IL1RAP	3556	broad.mit.edu	37	3	190366273	190366273	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:190366273G>C	ENST00000412504.2	+	11	1744	c.1492G>C	c.(1492-1494)Gtc>Ctc	p.V498L	IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000072516.3_Missense_Mutation_p.V498L|IL1RAP_ENST00000439062.1_Missense_Mutation_p.V498L|IL1RAP_ENST00000447382.1_Missense_Mutation_p.V498L			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	498	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CAACATCAACGTCATTTTAGT	0.502																																						uc003fsm.1		NaN																	0				ovary(1)	1						c.(1492-1494)GTC>CTC		interleukin 1 receptor accessory protein isoform							101.0	102.0	101.0					3																	190366273		2203	4300	6503	SO:0001583	missense	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190366273G>C	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1492G>C	3.37:g.190366273G>C	ENSP00000412053:p.Val498Leu					IL1RAP_uc010hzg.1_Missense_Mutation_p.V498L|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.V498L|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	p.V498L	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	12	1698	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		498			Cytoplasmic (Potential).|TIR.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.1492G>C	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832322	0.50845	.	.	ENSG00000196083	ENST00000072516;ENST00000412504;ENST00000439062;ENST00000447382	T;T;T;T	0.02916	4.11;4.11;4.11;4.11	5.88	5.88	0.94601	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.436907	0.24081	N	0.041726	T	0.02418	0.0074	N	0.12471	0.22	0.49213	D	0.999765	B	0.17852	0.024	B	0.19666	0.026	T	0.59016	-0.7533	10	0.37606	T	0.19	.	12.5248	0.56079	0.0754:0.0:0.9246:0.0	.	498	Q9NPH3	IL1AP_HUMAN	L	498	ENSP00000072516:V498L;ENSP00000412053:V498L;ENSP00000401132:V498L;ENSP00000390541:V498L	ENSP00000072516:V498L	V	+	1	0	IL1RAP	191848967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.559000	0.82265	2.792000	0.96026	0.557000	0.71058	GTC		0.502	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1				59	139	0	0	0	0.01441	0	59	139		
MFI2	4241	broad.mit.edu	37	3	196753550	196753550	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:196753550C>T	ENST00000296350.5	-	3	398	c.285G>A	c.(283-285)gtG>gtA	p.V95V	MFI2_ENST00000296351.4_Silent_p.V95V	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	95	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ACACTTCGCCCACCACCGGCT	0.622																																						uc003fxk.3		NaN																	0					0						c.(283-285)GTG>GTA		melanoma-associated antigen p97 isoform 1							101.0	84.0	89.0					3																	196753550		2203	4300	6503	SO:0001819	synonymous_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196753550C>T		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.285G>A	3.37:g.196753550C>T						MFI2_uc003fxl.3_Silent_p.V95V|MFI2_uc011bua.1_Silent_p.V95V	p.V95V	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	3	398	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		95			Transferrin-like 1.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.285G>A	CCDS3325.1																																																																																				0.622	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1				16	77	0	0	0	0.004007	0	16	77		
ZNF721	170960	broad.mit.edu	37	4	436965	436965	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:436965T>C	ENST00000338977.5	-	2	1303	c.1255A>G	c.(1255-1257)Aac>Gac	p.N419D	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.N431D			Q8TF20	ZN721_HUMAN	zinc finger protein 721	419					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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCATTCAGGTTTGTGGACAAT	0.373																																						uc003gag.2		NaN																	0				ovary(1)	1						c.(1291-1293)AAC>GAC		zinc finger protein 721							67.0	69.0	68.0					4																	436965		2024	4202	6226	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:436965T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1255A>G	4.37:g.436965T>C	ENSP00000340524:p.Asn419Asp					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.N463D|ZNF721_uc010ibe.2_Missense_Mutation_p.N419D	p.N431D	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	1982	-			431					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1291A>G		.	.	.	.	.	.	.	.	.	.	T	0.232	-1.020222	0.02061	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.20332	2.08;2.08	0.71	-0.842	0.10748	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20618	0.0496	N	0.16903	0.455	0.09310	N	1	D;P;P	0.53462	0.96;0.572;0.517	D;B;B	0.67103	0.949;0.328;0.221	T	0.19877	-1.0292	9	0.22109	T	0.4	.	4.2068	0.10493	0.0:0.2663:0.0:0.7337	.	419;431;431	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	D	419;431	ENSP00000340524:N419D;ENSP00000428878:N431D	ENSP00000340524:N419D	N	-	1	0	ZNF721	426965	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.332000	0.07904	-0.286000	0.09076	0.163000	0.16589	AAC		0.373	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1		NM_133474		6	44	0	0	0	0.001984	0	6	44		
FGFR3	2261	broad.mit.edu	37	4	1803738	1803738	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:1803738G>A	ENST00000260795.2	+	6	1018	c.916G>A	c.(916-918)Gtt>Att	p.V306I	FGFR3_ENST00000340107.4_Missense_Mutation_p.V306I|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000412135.2_Missense_Mutation_p.V306I|FGFR3_ENST00000481110.2_Missense_Mutation_p.V306I|FGFR3_ENST00000352904.1_Missense_Mutation_p.V306I|FGFR3_ENST00000440486.2_Missense_Mutation_p.V306I			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	306	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CACACCCTACGTTACCGTGCT	0.667		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		0				urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600						c.(916-918)GTT>ATT		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						40.0	35.0	37.0					4																	1803738		2200	4298	6498	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803738G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.916G>A	4.37:g.1803738G>A	ENSP00000260795:p.Val306Ile					FGFR3_uc003gdu.2_Missense_Mutation_p.V306I|FGFR3_uc003gds.3_Missense_Mutation_p.V306I|FGFR3_uc003gdq.3_Missense_Mutation_p.V306I|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Intron	p.V306I	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1172	+		Breast(71;0.212)|all_epithelial(65;0.241)	306			Ig-like C2-type 3.|Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.916G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	19.15	3.772323	0.69992	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;T;D;T;D;T	0.95656	-3.77;-0.34;-3.77;-1.15;-3.77;-1.15	4.0	4.0	0.46444	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.190102	0.44688	D	0.000430	D	0.93956	0.8065	N	0.12887	0.27	0.54753	D	0.999987	B;D;P;B	0.64830	0.01;0.994;0.898;0.384	B;P;B;B	0.60789	0.036;0.879;0.202;0.018	D	0.94727	0.7906	10	0.46703	T	0.11	.	16.4374	0.83880	0.0:0.0:1.0:0.0	.	306;306;306;306	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	I	306	ENSP00000420533:V306I;ENSP00000339824:V306I;ENSP00000414914:V306I;ENSP00000412903:V306I;ENSP00000260795:V306I;ENSP00000231803:V306I	ENSP00000260795:V306I	V	+	1	0	FGFR3	1773536	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	9.467000	0.97671	1.940000	0.56252	0.436000	0.28706	GTT		0.667	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		5	10	0	0	0	0.000602	0	5	10		
ATP10D	57205	broad.mit.edu	37	4	47538788	47538788	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:47538788A>G	ENST00000273859.3	+	9	1498	c.1229A>G	c.(1228-1230)tAc>tGc	p.Y410C	ATP10D_ENST00000504445.1_Missense_Mutation_p.Y395C	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	410					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTGGATTTCTACAATGAAAAA	0.398																																						uc003gxk.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(1228-1230)TAC>TGC		ATPase, class V, type 10D							58.0	59.0	59.0					4																	47538788		2203	4298	6501	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538788A>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1229A>G	4.37:g.47538788A>G	ENSP00000273859:p.Tyr410Cys					ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.Y395C	p.Y410C	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			9	1393	+			410			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1229A>G	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969108	0.74131	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.65916	-0.18;-0.18	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.86632	0.5979	H	0.97962	4.115	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91475	0.5200	10	0.87932	D	0	-17.3336	14.574	0.68232	1.0:0.0:0.0:0.0	.	410;395	Q9P241;Q6PEW3	AT10D_HUMAN;.	C	410;395	ENSP00000273859:Y410C;ENSP00000420909:Y395C	ENSP00000273859:Y410C	Y	+	2	0	ATP10D	47233545	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.339000	0.96797	2.051000	0.60960	0.528000	0.53228	TAC		0.398	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		NM_020453		14	16	0	0	0	0.00245	0	14	16		
ATP10D	57205	broad.mit.edu	37	4	47574247	47574247	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:47574247G>A	ENST00000273859.3	+	17	3509	c.3240G>A	c.(3238-3240)caG>caA	p.Q1080Q		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1080					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAGGCATGCAGGTGAGTGGAT	0.498																																						uc003gxk.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(3238-3240)CAG>CAA		ATPase, class V, type 10D							288.0	236.0	254.0					4																	47574247		2203	4300	6503	SO:0001630	splice_region_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47574247G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3240+1G>A	4.37:g.47574247G>A						ATP10D_uc003gxl.1_Silent_p.Q328Q	p.Q1080Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			17	3404	+			1080			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.3240G>A	CCDS3476.1																																																																																				0.498	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		NM_020453	Silent	29	34	0	0	0	0.008361	0	29	34		
GSX2	170825	broad.mit.edu	37	4	54968033	54968033	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:54968033G>A	ENST00000326902.2	+	2	1173	c.859G>A	c.(859-861)Gag>Aag	p.E287K	GSX2_ENST00000548609.1_3'UTR|AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	287					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CTCCGAGGATGAGGACTCCCT	0.647																																						uc010igp.1		NaN																	0					0						c.(859-861)GAG>AAG		GS homeobox 2							45.0	44.0	45.0					4																	54968033		2203	4300	6503	SO:0001583	missense	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54968033G>A		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.859G>A	4.37:g.54968033G>A	ENSP00000319118:p.Glu287Lys					PDGFRA_uc003haa.2_Intron	p.E287K	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		2	1123	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		287						Missense_Mutation	SNP	ENST00000326902.2	37	c.859G>A	CCDS3494.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741157	0.89573	.	.	ENSG00000180613	ENST00000326902	D	0.91237	-2.81	4.86	4.86	0.63082	.	0.129132	0.51477	D	0.000082	D	0.89347	0.6689	L	0.55990	1.75	0.80722	D	1	B	0.33103	0.397	B	0.35510	0.204	D	0.88632	0.3170	10	0.45353	T	0.12	.	18.2441	0.89979	0.0:0.0:1.0:0.0	.	287	Q9BZM3	GSX2_HUMAN	K	287	ENSP00000319118:E287K	ENSP00000319118:E287K	E	+	1	0	GSX2	54662790	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.653000	0.98506	2.531000	0.85337	0.479000	0.44913	GAG		0.647	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1		NM_133267		29	20	0	0	0	0.00632	0	29	20		
REST	5978	broad.mit.edu	37	4	57777573	57777573	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:57777573A>G	ENST00000309042.7	+	2	1083	c.769A>G	c.(769-771)Aca>Gca	p.T257A	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	257					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CACATACACAACAGTGAGCGA	0.383																																						uc003hch.2		NaN																	0				skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(769-771)ACA>GCA		RE1-silencing transcription factor							63.0	60.0	61.0					4																	57777573		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57777573A>G	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.769A>G	4.37:g.57777573A>G	ENSP00000311816:p.Thr257Ala					REST_uc003hci.2_Missense_Mutation_p.T257A|REST_uc003hcj.1_Missense_Mutation_p.T257A|REST_uc010ihf.2_5'UTR	p.T257A	NM_005612	NP_005603	Q13127	REST_HUMAN			2	1116	+	Glioma(25;0.08)|all_neural(26;0.181)		257			C2H2-type 3.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.769A>G	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680994	0.68042	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.27720	1.65	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000002	T	0.41419	0.1158	N	0.26042	0.785	0.80722	D	1	D;D	0.71674	0.994;0.998	P;D	0.79784	0.881;0.993	T	0.16129	-1.0413	10	0.30854	T	0.27	-25.7068	14.9902	0.71381	1.0:0.0:0.0:0.0	.	257;257	Q13127-2;Q13127	.;REST_HUMAN	A	257	ENSP00000311816:T257A	ENSP00000311816:T257A	T	+	1	0	REST	57472330	1.000000	0.71417	0.961000	0.40146	0.696000	0.40369	9.068000	0.93961	2.220000	0.72140	0.533000	0.62120	ACA		0.383	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2		NM_005612		45	40	0	0	0	0.010771	0	45	40		
LPHN3	23284	broad.mit.edu	37	4	62800707	62800707	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:62800707G>A	ENST00000514591.1	+	13	2387	c.2058G>A	c.(2056-2058)aaG>aaA	p.K686K	LPHN3_ENST00000504896.1_Silent_p.K686K|LPHN3_ENST00000508693.1_Silent_p.K754K|LPHN3_ENST00000511324.1_Silent_p.K754K|LPHN3_ENST00000545650.1_Silent_p.K686K|LPHN3_ENST00000514157.1_Silent_p.K686K|LPHN3_ENST00000506700.1_Silent_p.K686K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000509896.1_Silent_p.K754K|LPHN3_ENST00000508946.1_Silent_p.K686K|LPHN3_ENST00000514996.1_Silent_p.K686K|LPHN3_ENST00000507164.1_Silent_p.K754K|LPHN3_ENST00000506746.1_Silent_p.K754K|LPHN3_ENST00000507625.1_Silent_p.K754K|LPHN3_ENST00000512091.2_Silent_p.K686K|LPHN3_ENST00000506720.1_Silent_p.K754K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	673					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCTTTTGAAGACTGACATTG	0.438																																						uc010ihh.2		NaN																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2056-2058)AAG>AAA		latrophilin 3 precursor							109.0	109.0	109.0					4																	62800707		2002	4178	6180	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62800707G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2058G>A	4.37:g.62800707G>A						LPHN3_uc003hcq.3_Silent_p.K686K|LPHN3_uc003hct.2_Silent_p.K79K|LPHN3_uc003hcs.1_Silent_p.K502K	p.K686K	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			11	2231	+			673			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.2058G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	7.320	0.616727	0.14129	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.64	4.77	0.60923	.	.	.	.	.	T	0.69717	0.3142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69109	-0.5232	4	.	.	.	.	13.8614	0.63561	0.0753:0.0:0.9247:0.0	.	.	.	.	N	144	.	.	D	+	1	0	LPHN3	62483302	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.020000	0.57189	1.557000	0.49525	0.650000	0.86243	GAC		0.438	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1				15	24	0	0	0	0.00499	0	15	24		
EPHA5	2044	broad.mit.edu	37	4	66356360	66356360	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:66356360C>A	ENST00000273854.3	-	5	1737	c.1137G>T	c.(1135-1137)ccG>ccT	p.P379P	EPHA5_ENST00000511294.1_Silent_p.P379P|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.P379P	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	379	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGTCAGCAGGCGGAATCCATT	0.458										TSP Lung(17;0.13)																												uc003hcy.2		NaN																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1135-1137)CCG>CCT		ephrin receptor EphA5 isoform a precursor							84.0	69.0	74.0					4																	66356360		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356360C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1137G>T	4.37:g.66356360C>A		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.P310P|EPHA5_uc003hcz.2_Silent_p.P379P|EPHA5_uc011cah.1_Silent_p.P379P|EPHA5_uc011cai.1_Silent_p.P379P|EPHA5_uc003hda.2_Silent_p.P379P	p.P379P	NM_004439	NP_004430	P54756	EPHA5_HUMAN			5	1330	-			379			Fibronectin type-III 1.|Extracellular (Potential).		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1137G>T	CCDS3513.1																																																																																				0.458	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2		NM_004439		9	47	1	0	0.000274275	0.004482	0.00028027	9	47		
USO1	8615	broad.mit.edu	37	4	76721825	76721825	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:76721825G>C	ENST00000538159.1	+	17	1764	c.1764G>C	c.(1762-1764)gaG>gaC	p.E588D	USO1_ENST00000514213.2_Missense_Mutation_p.E564D			O60763	USO1_HUMAN	USO1 vesicle transport factor	579	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATTTCATAGAGAAACTAGGAT	0.348																																						uc003hiu.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1735-1737)GAG>GAC		USO1 homolog, vesicle docking protein							97.0	95.0	96.0					4																	76721825		1812	4078	5890	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76721825G>C	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1764G>C	4.37:g.76721825G>C	ENSP00000440586:p.Glu588Asp					USO1_uc003hiv.2_Missense_Mutation_p.E421D|USO1_uc003hiw.2_Missense_Mutation_p.E414D	p.E579D	NM_003715	NP_003706	O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		15	1912	+			579			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.1737G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.97|12.97	2.098762|2.098762	0.37048|0.37048	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904|ENST00000441296	.|.	.|.	.|.	5.24|5.24	4.38|4.38	0.52667|0.52667	Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41259|0.41259	0.1151|0.1151	N|N	0.11698|0.11698	0.16|0.16	0.58432|0.58432	D|D	0.999998|0.999998	B;B|.	0.22414|.	0.069;0.019|.	B;B|.	0.23018|.	0.043;0.032|.	T|T	0.23511|0.23511	-1.0186|-1.0186	9|5	0.02654|.	T|.	1|.	.|.	14.7262|14.7262	0.69346|0.69346	0.0739:0.0:0.9261:0.0|0.0739:0.0:0.9261:0.0	.|.	588;579|.	F5GYR8;O60763|.	.;USO1_HUMAN|.	D|T	414;588;564;507|255	.|.	ENSP00000264904:E507D|.	E|R	+|+	3|2	2|0	USO1|USO1	76940849|76940849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.447000|5.447000	0.66606|0.66606	2.614000|2.614000	0.88457|0.88457	0.455000|0.455000	0.32223|0.32223	GAG|AGA		0.348	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_003715		38	25	0	0	0	0.005524	0	38	25		
SOWAHB	345079	broad.mit.edu	37	4	77817830	77817830	+	Silent	SNP	G	G	T	rs371107763		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:77817830G>T	ENST00000334306.2	-	1	1172	c.1173C>A	c.(1171-1173)ctC>ctA	p.L391L		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	391																	CCAGATCTTGGAGGGACAGCT	0.577																																						uc003hki.2		NaN																	0					0						c.(1171-1173)CTC>CTA		ankyrin repeat domain 56							72.0	77.0	75.0					4																	77817830		2203	4300	6503	SO:0001819	synonymous_variant	345079							g.chr4:77817830G>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1173C>A	4.37:g.77817830G>T							p.L391L	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	1173	-			391					B2RP29	Silent	SNP	ENST00000334306.2	37	c.1173C>A	CCDS34017.1																																																																																				0.577	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1		NM_001029870		30	113	1	0	9.78306e-22	0.009535	1.08572e-21	30	113		
DSPP	1834	broad.mit.edu	37	4	88533799	88533799	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:88533799C>G	ENST00000282478.7	+	3	494	c.461C>G	c.(460-462)aCt>aGt	p.T154S	DSPP_ENST00000399271.1_Missense_Mutation_p.T154S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	154					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGAAGCAACACTAATGGAAAT	0.438																																						uc003hqu.2		NaN																	0				central_nervous_system(1)	1						c.(460-462)ACT>AGT		dentin sialophosphoprotein preproprotein							116.0	110.0	112.0					4																	88533799		2003	4181	6184	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88533799C>G	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.461C>G	4.37:g.88533799C>G	ENSP00000282478:p.Thr154Ser						p.T154S	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	581	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	154					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.461C>G	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	c	5.691	0.311984	0.10789	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87029	-2.2;-2.2	4.81	-8.48	0.00935	.	2.355770	0.02653	N	0.106625	T	0.67618	0.2912	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.12156	0.007	T	0.55673	-0.8104	10	0.54805	T	0.06	-1.1692	0.5696	0.00693	0.2565:0.1505:0.2867:0.3063	.	154	Q9NZW4	DSPP_HUMAN	S	154	ENSP00000382213:T154S;ENSP00000282478:T154S	ENSP00000282478:T154S	T	+	2	0	DSPP	88752823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.425000	0.02446	-1.004000	0.03421	-2.690000	0.00139	ACT		0.438	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3		NM_014208		22	31	0	0	0	0.010504	0	22	31		
CENPE	1062	broad.mit.edu	37	4	104044225	104044225	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:104044225C>G	ENST00000265148.3	-	43	7035	c.6946G>C	c.(6946-6948)Gag>Cag	p.E2316Q	CENPE_ENST00000380026.3_Missense_Mutation_p.E2195Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2316	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTCAAACTCTGTTGATTCA	0.333																																						uc003hxb.1		NaN																	0				ovary(5)|breast(4)	9						c.(6946-6948)GAG>CAG		centromere protein E							151.0	152.0	152.0					4																	104044225		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104044225C>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6946G>C	4.37:g.104044225C>G	ENSP00000265148:p.Glu2316Gln					CENPE_uc003hxc.1_Missense_Mutation_p.E2195Q	p.E2316Q	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	43	7036	-			2316			Kinetochore-binding domain.|Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.6946G>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334458	0.60853	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.73575	-0.76;-0.71	4.84	4.84	0.62591	.	.	.	.	.	T	0.79747	0.4499	L	0.56769	1.78	0.25662	N	0.985988	D;D	0.69078	0.99;0.997	P;P	0.60789	0.836;0.879	T	0.69150	-0.5221	9	0.12766	T	0.61	.	13.4548	0.61193	0.0:1.0:0.0:0.0	.	2195;2316	Q02224-3;Q02224	.;CENPE_HUMAN	Q	2316;2280;2195	ENSP00000265148:E2316Q;ENSP00000369365:E2195Q	ENSP00000265148:E2316Q	E	-	1	0	CENPE	104263674	0.976000	0.34144	0.977000	0.42913	0.968000	0.65278	3.675000	0.54605	2.213000	0.71641	0.467000	0.42956	GAG		0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					38	36	0	0	0	0.00623	0	38	36		
PDE5A	8654	broad.mit.edu	37	4	120517758	120517758	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:120517758A>C	ENST00000354960.3	-	3	1070	c.751T>G	c.(751-753)Ttc>Gtc	p.F251V	PDE5A_ENST00000264805.5_Missense_Mutation_p.F209V|PDE5A_ENST00000394439.1_Missense_Mutation_p.F199V	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	251	GAF 1.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TCTGCATTGAACCGAGGATCC	0.328																																						uc003idh.2		NaN																	0					0						c.(751-753)TTC>GTC		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						123.0	117.0	119.0					4																	120517758		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120517758A>C	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.751T>G	4.37:g.120517758A>C	ENSP00000347046:p.Phe251Val					PDE5A_uc003idf.2_Missense_Mutation_p.F209V|PDE5A_uc003idg.2_Missense_Mutation_p.F199V	p.F251V	NM_001083	NP_001074	O76074	PDE5A_HUMAN			3	906	-			251			GAF 1.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.751T>G	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864988	0.91511	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.66	5.66	0.87406	GAF (2);	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.88691	0.3209	10	0.87932	D	0	.	15.8807	0.79201	1.0:0.0:0.0:0.0	.	251;209	O76074;O76074-2	PDE5A_HUMAN;.	V	251;199;209;199	ENSP00000347046:F251V;ENSP00000377957:F199V;ENSP00000264805:F209V;ENSP00000416309:F199V	ENSP00000264805:F209V	F	-	1	0	PDE5A	120737206	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	8.771000	0.91751	2.151000	0.67156	0.533000	0.62120	TTC		0.328	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1		NM_001083		14	29	0	0	0	0.00245	0	14	29		
OTUD4	54726	broad.mit.edu	37	4	146058794	146058794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:146058794G>A	ENST00000447906.2	-	21	3320	c.3133C>T	c.(3133-3135)Caa>Taa	p.Q1045*	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Nonsense_Mutation_p.Q980*			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1045					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATAAGTTTGATTATAGAAC	0.408																																						uc003ika.3		NaN																	0				ovary(2)|breast(1)	3						c.(2938-2940)CAA>TAA		OTU domain containing 4 protein isoform 3							208.0	208.0	208.0					4																	146058794		2203	4300	6503	SO:0001587	stop_gained	54726						protein binding	g.chr4:146058794G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3133C>T	4.37:g.146058794G>A	ENSP00000395487:p.Gln1045*					OTUD4_uc003ijz.3_Nonsense_Mutation_p.Q979*	p.Q980*	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			21	3076	-	all_hematologic(180;0.151)		1044					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Nonsense_Mutation	SNP	ENST00000447906.2	37	c.2938C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.515855	0.98332	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.5574	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	980;1045	.	ENSP00000395487:Q1045X	Q	-	1	0	OTUD4	146278244	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.695000	0.74593	2.941000	0.99782	0.655000	0.94253	CAA		0.408	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493		73	131	0	0	0	0.01441	0	73	131		
ETFDH	2110	broad.mit.edu	37	4	159627494	159627494	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:159627494G>A	ENST00000511912.1	+	11	1771	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E	ETFDH_ENST00000307738.5_Missense_Mutation_p.G433E	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	480					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ATATTGAGAGGAATGGAGCCG	0.378																																						uc003iqb.2		NaN																	0				large_intestine(2)|skin(1)	3						c.(1438-1440)GGA>GAA		electron-transferring-flavoprotein dehydrogenase							87.0	88.0	88.0					4																	159627494		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159627494G>A	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1439G>A	4.37:g.159627494G>A	ENSP00000426638:p.Gly480Glu					ETFDH_uc011cjg.1_Missense_Mutation_p.G433E|ETFDH_uc010iqr.2_Missense_Mutation_p.G77E|ETFDH_uc011cjh.1_Missense_Mutation_p.G419E|ETFDH_uc010iqs.2_Missense_Mutation_p.G402E	p.G480E	NM_004453	NP_004444	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	11	1771	+	all_hematologic(180;0.24)	Renal(120;0.0458)	480					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.1439G>A	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294425	0.95546	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.94862	-3.54;-3.54	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	H	0.97918	4.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99107	1.0845	10	0.87932	D	0	-22.6736	20.2361	0.98357	0.0:0.0:1.0:0.0	.	433;419;480	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	E	480;433	ENSP00000426638:G480E;ENSP00000303552:G433E	ENSP00000303552:G433E	G	+	2	0	ETFDH	159846944	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.791000	0.96007	0.591000	0.81541	GGA		0.378	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2				22	30	0	0	0	0.014323	0	22	30		
GLRA3	8001	broad.mit.edu	37	4	175749928	175749928	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:175749928G>A	ENST00000274093.3	-	1	537	c.35C>T	c.(34-36)tCg>tTg	p.S12L	GLRA3_ENST00000340217.5_Missense_Mutation_p.S12L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	12					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.S12L(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	GTAAAATCCCGAAACTAATGT	0.458																																						uc003ity.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(34-36)TCG>TTG		glycine receptor, alpha 3 isoform a	Glycine(DB00145)						123.0	112.0	116.0					4																	175749928		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175749928G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.35C>T	4.37:g.175749928G>A	ENSP00000274093:p.Ser12Leu					GLRA3_uc003itz.1_Missense_Mutation_p.S12L|uc003iua.1_5'Flank|uc003iub.1_5'Flank	p.S12L	NM_006529	NP_006520	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	1	538	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	12					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.35C>T	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308243	0.60305	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.68331	-0.21;-0.32	5.23	5.23	0.72850	.	0.203855	0.35040	N	0.003497	T	0.60650	0.2285	N	0.08118	0	0.37851	D	0.929387	P;P	0.47302	0.893;0.829	P;P	0.58820	0.846;0.706	T	0.60372	-0.7276	10	0.18710	T	0.47	.	14.1703	0.65506	0.0:0.0:1.0:0.0	.	12;12	O75311-2;O75311	.;GLRA3_HUMAN	L	12	ENSP00000274093:S12L;ENSP00000345284:S12L	ENSP00000274093:S12L	S	-	2	0	GLRA3	175986503	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.670000	0.61583	2.710000	0.92621	0.655000	0.94253	TCG		0.458	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1				21	29	0	0	0	0.010504	0	21	29		
C5orf42	65250	broad.mit.edu	37	5	37183592	37183592	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:37183592C>G	ENST00000508244.1	-	25	4784	c.4691G>C	c.(4690-4692)aGa>aCa	p.R1564T	C5orf42_ENST00000425232.2_Missense_Mutation_p.R1564T|C5orf42_ENST00000274258.7_Missense_Mutation_p.R445T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1564						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGGTAGGTCTCTTTCAAGAAT	0.323																																						uc011cpa.1		NaN																	0				ovary(4)|breast(2)|skin(1)	7						c.(4690-4692)AGA>ACA		hypothetical protein LOC65250							67.0	67.0	67.0					5																	37183592		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37183592C>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4691G>C	5.37:g.37183592C>G	ENSP00000421690:p.Arg1564Thr					C5orf42_uc011coy.1_Missense_Mutation_p.R65T|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.R639T|C5orf42_uc011cpb.1_Missense_Mutation_p.R445T	p.R1564T	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		26	4922	-	all_lung(31;0.000616)		1564					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.4691G>C	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431655	0.62844	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.24	3.44	0.39384	.	0.138522	0.33401	N	0.004948	T	0.64864	0.2637	N	0.19112	0.55	0.32220	N	0.575412	D;D	0.76494	0.999;0.992	D;P	0.63283	0.913;0.856	T	0.71041	-0.4707	10	0.72032	D	0.01	.	9.4229	0.38561	0.0:0.7777:0.0:0.2223	.	1564;445	E9PH94;Q9H799	.;CE042_HUMAN	T	1564;1564;445;612;445	ENSP00000421690:R1564T;ENSP00000389014:R1564T;ENSP00000274258:R445T;ENSP00000424223:R612T	ENSP00000274258:R445T	R	-	2	0	C5orf42	37219349	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.090000	0.41682	1.210000	0.43336	-0.140000	0.14226	AGA		0.323	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073		20	54	0	0	0	0.008871	0	20	54		
SNX18	112574	broad.mit.edu	37	5	53815261	53815261	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:53815261C>T	ENST00000326277.3	+	1	1669	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	SNX18_ENST00000381410.4_Silent_p.I493I|SNX18_ENST00000343017.6_Silent_p.I493I	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	493	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				ACCAGGCTATCGCCTTCACCG	0.607																																						uc003jpj.3		NaN																	0					0						c.(1477-1479)ATC>ATT		sorting nexin 18 isoform b							53.0	52.0	52.0					5																	53815261		2203	4300	6503	SO:0001819	synonymous_variant	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53815261C>T	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1479C>T	5.37:g.53815261C>T						SNX18_uc011cqg.1_Silent_p.I493I|SNX18_uc003jpi.3_Silent_p.I493I	p.I493I	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN			1	1669	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	493			BAR.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	ENST00000326277.3	37	c.1479C>T	CCDS3962.1																																																																																				0.607	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2				34	56	0	0	0	0.013726	0	34	56		
ADAMTS6	11174	broad.mit.edu	37	5	64629868	64629868	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:64629868C>A	ENST00000536360.1	-	8	1931		c.e8+1					Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		aaaaaaCTTACCCAGTGTTCC	0.254																																						uc003jtp.2		NaN																	0					0						c.e8+1		ADAM metallopeptidase with thrombospondin type 1							37.0	41.0	39.0					5																	64629868		2197	4295	6492	SO:0001630	splice_region_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64629868C>A	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1117+1G>T	5.37:g.64629868C>A						ADAMTS6_uc003jto.2_Splice_Site|ADAMTS6_uc003jtq.2_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site	p.G373_splice	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	8	1931	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)						Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Splice_Site	SNP	ENST00000536360.1	37	c.1117_splice		.	.	.	.	.	.	.	.	.	.	C	21.5	4.165166	0.78339	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2467	0.89988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS6	64665624	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.224000	0.78042	2.408000	0.81797	0.561000	0.74099	.		0.254	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding			NM_197941	Intron	6	12	1	0	0.00198382	0.001984	0.00202166	6	12		
TRAPPC13	80006	broad.mit.edu	37	5	64954221	64954221	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:64954221G>C	ENST00000399438.3	+	9	936	c.591G>C	c.(589-591)caG>caC	p.Q197H	TRAPPC13_ENST00000231526.4_Missense_Mutation_p.Q191H|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.Q191H|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.Q197H|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.Q198H	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	197																	TGGAAGCCCAGATTCAGAATA	0.353																																						uc003jtz.3		NaN																	0				ovary(1)	1						c.(589-591)CAG>CAC		hypothetical protein LOC80006 isoform 2							67.0	61.0	63.0					5																	64954221		1827	4083	5910	SO:0001583	missense	80006							g.chr5:64954221G>C		CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.591G>C	5.37:g.64954221G>C	ENSP00000382367:p.Gln197His					C5orf44_uc003jua.3_Missense_Mutation_p.Q197H|C5orf44_uc003juc.3_Missense_Mutation_p.Q191H|C5orf44_uc010iwv.2_Missense_Mutation_p.Q191H	p.Q197H	NM_024941	NP_079217	A5PLN9	CE044_HUMAN			9	921	+			197					Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	ENST00000399438.3	37	c.591G>C	CCDS47222.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771635	0.69992	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	5.52	2.71	0.32032	.	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	M	0.82132	2.575	0.58432	D	0.999999	D;D;D;D	0.65815	0.993;0.993;0.993;0.995	D;D;D;D	0.68039	0.925;0.925;0.925;0.955	T	0.78173	-0.2307	9	0.87932	D	0	-18.7818	10.6878	0.45854	0.3256:0.0:0.6744:0.0	.	191;191;197;197	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	H	197;197;191;191;198	.	ENSP00000231526:Q191H	Q	+	3	2	C5orf44	64989977	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.630000	0.46494	0.797000	0.33971	0.650000	0.86243	CAG		0.353	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1		NM_024941		7	4	0	0	0	0.001984	0	7	4		
TNPO1	3842	broad.mit.edu	37	5	72192882	72192882	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:72192882G>C	ENST00000337273.5	+	20	2668		c.e20-1		TNPO1_ENST00000506351.2_Splice_Site|TNPO1_ENST00000454282.1_Splice_Site|TNPO1_ENST00000523768.1_Splice_Site	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATGATCTCTAGGTATAGAGAT	0.343																																						uc003kck.3		NaN																	0				skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7						c.e20-1		transportin 1 isoform 1							52.0	50.0	51.0					5																	72192882		2203	4300	6503	SO:0001630	splice_region_variant	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72192882G>C	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2243-1G>C	5.37:g.72192882G>C						TNPO1_uc011csj.1_Splice_Site_p.G698_splice|TNPO1_uc003kch.2_Splice_Site_p.G740_splice|TNPO1_uc003kci.3_Splice_Site_p.G740_splice|TNPO1_uc003kcg.3_Splice_Site_p.G740_splice	p.G748_splice	NM_002270	NP_002261	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	20	2390	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)						B4DVC6|Q92957|Q92975	Splice_Site	SNP	ENST00000337273.5	37	c.2243_splice	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539536	0.85917	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8362	0.96658	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNPO1	72228638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.401000	0.97294	2.690000	0.91761	0.563000	0.77884	.		0.343	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3		NM_002270	Intron	25	23	0	0	0	0.00333	0	25	23		
GPR98	84059	broad.mit.edu	37	5	90055402	90055402	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:90055402G>A	ENST00000405460.2	+	58	12213	c.12117G>A	c.(12115-12117)aaG>aaA	p.K4039K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4039	Calx-beta 27. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAGAAAAGACTGTAAGTT	0.383																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(12115-12117)AAG>AAA		G protein-coupled receptor 98 precursor							115.0	108.0	110.0					5																	90055402		1944	4146	6090	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90055402G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12117G>A	5.37:g.90055402G>A						GPR98_uc003kjt.2_Silent_p.K1745K|GPR98_uc003kjv.2_Silent_p.K1639K	p.K4039K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	58	12213	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4039			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.12117G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	7.320	0.616798	0.14129	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.06	2.26	0.28386	.	.	.	.	.	T	0.58148	0.2102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50642	-0.8804	4	.	.	.	.	9.2834	0.37742	0.4288:0.0:0.5712:0.0	.	.	.	.	K	1605	.	.	R	+	2	0	GPR98	90091158	0.989000	0.36119	1.000000	0.80357	0.821000	0.46438	0.208000	0.17415	0.246000	0.21394	0.563000	0.77884	AGA		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		4	8	0	0	0	0.009096	0	4	8		
ANKHD1	54882	broad.mit.edu	37	5	139889343	139889343	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:139889343T>C	ENST00000360839.2	+	21	4041	c.3887T>C	c.(3886-3888)tTa>tCa	p.L1296S	ANKHD1_ENST00000297183.6_Missense_Mutation_p.L1296S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L1296S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1296						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATACTGCTTTAACAATAGCA	0.408																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(3886-3888)TTA>TCA		ANKHD1-EIF4EBP3 protein							87.0	82.0	84.0					5																	139889343		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139889343T>C	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3887T>C	5.37:g.139889343T>C	ENSP00000354085:p.Leu1296Ser					ANKHD1_uc003lfq.1_Missense_Mutation_p.L1315S|ANKHD1_uc003lfr.2_Missense_Mutation_p.L1296S|ANKHD1_uc003lft.1_Missense_Mutation_p.L507S|ANKHD1_uc003lfu.1_Missense_Mutation_p.L776S|ANKHD1_uc003lfv.1_Missense_Mutation_p.L373S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.L35S|ANKHD1_uc003lfw.2_5'Flank	p.L1296S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		21	4011	+			1296					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.3887T>C	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.1|27.1	4.802293|4.802293	0.90538|0.90538	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219|ENST00000246149	T;T;T;T;T|.	0.37058|.	1.22;1.22;1.22;1.22;1.22|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Ankyrin repeat-containing domain (4);|.	0.182174|.	0.34223|.	N|.	0.004155|.	D|.	0.86756|.	0.6009|.	H|H	0.94385|0.94385	3.53|3.53	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;0.999|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.998;0.998|.	D|.	0.90538|.	0.4500|.	10|.	0.87932|.	D|.	0|.	.|.	15.8828|15.8828	0.79216|0.79216	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	507;1296;1315;1296;1296|.	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	S|Q	1296;1329;1296;1296;830;507;1315;449;1296|522	ENSP00000354085:L1296S;ENSP00000297183:L1296S;ENSP00000394489:L1315S;ENSP00000405602:L449S;ENSP00000432016:L1296S|.	ENSP00000432016:L1296S|.	L|X	+|+	2|1	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139869527|139869527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.884000|7.884000	0.87274|0.87274	2.213000|2.213000	0.71641|0.71641	0.477000|0.477000	0.44152|0.44152	TTA|TAA		0.408	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		27	26	0	0	0	0.005443	0	27	26		
PCDHB3	56132	broad.mit.edu	37	5	140481673	140481673	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:140481673A>G	ENST00000231130.2	+	1	1440	c.1440A>G	c.(1438-1440)tcA>tcG	p.S480S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCAGGCACCAACG	0.647																																						uc003lio.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1438-1440)TCA>TCG		protocadherin beta 3 precursor							88.0	91.0	90.0					5																	140481673		2203	4298	6501	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481673A>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1440A>G	5.37:g.140481673A>G						uc003lin.2_Intron	p.S480S	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1440	+			480			Extracellular (Potential).|Cadherin 5.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.1440A>G	CCDS4245.1																																																																																				0.647	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2		NM_018937		69	105	0	0	0	0.01441	0	69	105		
PCDHB5	26167	broad.mit.edu	37	5	140516673	140516673	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:140516673G>A	ENST00000231134.5	+	1	1874	c.1657G>A	c.(1657-1659)Gcc>Acc	p.A553T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.716																																						uc003liq.2		NaN																	0				skin(3)|ovary(2)	5						c.(1657-1659)GCC>ACC		protocadherin beta 5 precursor							29.0	33.0	32.0					5																	140516673		2200	4293	6493	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516673G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1657G>A	5.37:g.140516673G>A	ENSP00000231134:p.Ala553Thr						p.A553T	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1874	+			553			Extracellular (Potential).|Cadherin 5.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1657G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	8.590	0.884248	0.17467	.	.	ENSG00000113209	ENST00000231134	T	0.03181	4.02	4.42	2.48	0.30137	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02649	0.0080	N	0.12746	0.255	0.09310	N	1	B	0.19331	0.035	B	0.19148	0.024	T	0.44345	-0.9334	9	0.40728	T	0.16	.	9.7319	0.40366	0.0792:0.3877:0.5331:0.0	.	553	Q9Y5E4	PCDB5_HUMAN	T	553	ENSP00000231134:A553T	ENSP00000231134:A553T	A	+	1	0	PCDHB5	140496857	0.000000	0.05858	0.993000	0.49108	0.635000	0.38103	0.060000	0.14342	0.930000	0.37217	0.194000	0.17425	GCC		0.716	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1		NM_015669		23	56	0	0	0	0.00278	0	23	56		
KIAA0141	9812	broad.mit.edu	37	5	141309811	141309811	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:141309811C>T	ENST00000432126.2	+	7	860	c.726C>T	c.(724-726)ctC>ctT	p.L242L	KIAA0141_ENST00000194118.4_Silent_p.L242L	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	242					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCAGCTCAGTGTTTCCA	0.473																																						uc003lls.2		NaN																	0				skin(1)	1						c.(724-726)CTC>CTT		hypothetical protein LOC9812 precursor							71.0	70.0	70.0					5																	141309811		2203	4300	6503	SO:0001819	synonymous_variant	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141309811C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.726C>T	5.37:g.141309811C>T						KIAA0141_uc003llt.2_Silent_p.L242L	p.L242L	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	848	+		all_hematologic(541;0.118)	242			TPR 1.		Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	37	c.726C>T	CCDS4268.1																																																																																				0.473	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2		NM_014773		11	24	0	0	0	0.001855	0	11	24		
ADRB2	154	broad.mit.edu	37	5	148207103	148207103	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:148207103G>C	ENST00000305988.4	+	1	948	c.709G>C	c.(709-711)Gag>Cag	p.E237Q		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	237					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|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)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	TGACAAATCTGAGGGCCGCTT	0.547																																						uc003lpr.1		NaN																	0				ovary(1)	1						c.(709-711)GAG>CAG		adrenergic, beta-2-, receptor, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						93.0	89.0	91.0					5																	148207103		2203	4300	6503	SO:0001583	missense	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207103G>C	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.709G>C	5.37:g.148207103G>C	ENSP00000305372:p.Glu237Gln					SH3TC2_uc003lpp.1_Intron	p.E237Q	NM_000024	NP_000015	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	948	+			237			Cytoplasmic.		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.709G>C	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785541	0.70337	.	.	ENSG00000169252	ENST00000305988	T	0.37584	1.19	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.057557	0.64402	D	0.000002	T	0.40119	0.1104	L	0.46885	1.475	0.58432	D	0.999997	P	0.40681	0.727	B	0.41619	0.361	T	0.32241	-0.9914	10	0.72032	D	0.01	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	237	P07550	ADRB2_HUMAN	Q	237	ENSP00000305372:E237Q	ENSP00000305372:E237Q	E	+	1	0	ADRB2	148187296	1.000000	0.71417	0.974000	0.42286	0.756000	0.42949	7.671000	0.83941	2.832000	0.97577	0.655000	0.94253	GAG		0.547	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1		NM_000024		6	100	0	0	0	0.001168	0	6	100		
GABRG2	2566	broad.mit.edu	37	5	161580368	161580368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:161580368C>A	ENST00000361925.4	+	9	1618	c.1398C>A	c.(1396-1398)taC>taA	p.Y466*	GABRG2_ENST00000356592.3_Nonsense_Mutation_p.Y474*|GABRG2_ENST00000393933.4_Nonsense_Mutation_p.Y371*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.Y514*			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	466					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTACCTCTACCTGTGAGGAG	0.443																																						uc003lyz.3		NaN																	0				ovary(4)|skin(1)	5						c.(1396-1398)TAC>TAA		gamma-aminobutyric acid A receptor, gamma 2							226.0	232.0	230.0					5																	161580368		2203	4300	6503	SO:0001587	stop_gained	2566				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|protein binding	g.chr5:161580368C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1398C>A	5.37:g.161580368C>A	ENSP00000354651:p.Tyr466*					GABRG2_uc010jjc.2_Nonsense_Mutation_p.Y514*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.Y474*|GABRG2_uc011dej.1_Nonsense_Mutation_p.Y371*	p.Y466*	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1756	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	466			Helical; (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Nonsense_Mutation	SNP	ENST00000361925.4	37	c.1398C>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	37	6.283347	0.97440	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	.	.	.	5.95	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.23492	N	0.997567	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	9.3143	0.37924	0.0:0.7817:0.0:0.2183	.	.	.	.	X	474;514;466;371	.	ENSP00000349000:Y474X	Y	+	3	2	GABRG2	161512946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.474000	0.35398	0.845000	0.35118	0.655000	0.94253	TAC		0.443	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1				74	114	1	0	1.07363e-35	0.01441	1.2242e-35	74	114		
CLK4	57396	broad.mit.edu	37	5	178050303	178050303	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:178050303C>T	ENST00000316308.4	-	2	283	c.115G>A	c.(115-117)Gag>Aag	p.E39K	CLK4_ENST00000520957.1_Missense_Mutation_p.E39K	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	39					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.E39Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TGCCTGTTCTCTTGTGTGCTA	0.388																																						uc003mjf.1		NaN																	2	Substitution - Missense(2)		breast(2)	ovary(1)	1						c.(115-117)GAG>AAG		CDC-like kinase 4							276.0	249.0	258.0					5																	178050303		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178050303C>T	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.115G>A	5.37:g.178050303C>T	ENSP00000316948:p.Glu39Lys					CLK4_uc003mjg.1_5'UTR|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.E39K|CLK4_uc011dgh.1_5'UTR|CLK4_uc011dgi.1_Missense_Mutation_p.E39K|CLK4_uc011dgj.1_Missense_Mutation_p.E39K|CLK4_uc003mji.2_Missense_Mutation_p.E39K|CLK4_uc010jkw.1_Missense_Mutation_p.E39K	p.E39K	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	2	223	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	39						Missense_Mutation	SNP	ENST00000316308.4	37	c.115G>A	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046476	0.93740	.	.	ENSG00000113240	ENST00000316308;ENST00000536763;ENST00000520957	T	0.07688	3.17	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	M	0.66506	2.035	0.44852	D	0.997863	D;P;D;D;P	0.89917	0.996;0.953;1.0;0.996;0.682	D;P;D;D;B	0.85130	0.981;0.551;0.997;0.986;0.108	T	0.00065	-1.2149	10	0.51188	T	0.08	.	15.6134	0.76744	0.0:1.0:0.0:0.0	.	39;39;39;39;39	B7Z990;B7ZL31;E7EWJ6;Q4G0Z5;Q9HAZ1	.;.;.;.;CLK4_HUMAN	K	39	ENSP00000316948:E39K	ENSP00000316948:E39K	E	-	1	0	CLK4	177982909	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.569000	0.60865	2.766000	0.95052	0.491000	0.48974	GAG		0.388	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2				55	53	0	0	0	0.01441	0	55	53		
GMDS	2762	broad.mit.edu	37	6	1624454	1624454	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:1624454C>T	ENST00000380815.4	-	11	1338	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	GMDS_ENST00000530927.1_Missense_Mutation_p.E327K|GMDS_ENST00000467288.2_5'UTR	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	357					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGCACCATCTCCCTCACCAGC	0.677																																						uc003mtq.2		NaN																	0				central_nervous_system(1)	1						c.(1069-1071)GAG>AAG		GDP-mannose 4,6-dehydratase							56.0	48.0	51.0					6																	1624454		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1624454C>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.1069G>A	6.37:g.1624454C>T	ENSP00000370194:p.Glu357Lys						p.E357K	NM_001500	NP_001491	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	11	1259	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	357					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.1069G>A	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359703	0.82353	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.23	5.23	0.72850	.	0.054374	0.64402	N	0.000001	T	0.65101	0.2659	M	0.87971	2.92	0.80722	D	1	D	0.55605	0.972	P	0.45119	0.47	T	0.74278	-0.3717	9	0.59425	D	0.04	-22.1708	17.3548	0.87333	0.0:1.0:0.0:0.0	.	357	O60547	GMDS_HUMAN	K	327;357	.	ENSP00000370194:E357K	E	-	1	0	GMDS	1569453	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.054000	0.71096	2.604000	0.88044	0.555000	0.69702	GAG		0.677	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3				17	15	0	0	0	0.007413	0	17	15		
HIST1H2BI	8346	broad.mit.edu	37	6	26273579	26273579	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:26273579A>T	ENST00000377733.2	+	1	436	c.376A>T	c.(376-378)Aag>Tag	p.K126*	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	126					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CACCAGCTCCAAGTAAACTAG	0.537																																						uc003nhk.2		NaN																	0					0						c.(376-378)AAG>TAG		histone cluster 1, H2bi							31.0	32.0	31.0					6																	26273579		2203	4300	6503	SO:0001587	stop_gained	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273579A>T	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.376A>T	6.37:g.26273579A>T	ENSP00000366962:p.Lys126*					HIST1H3G_uc003nhi.2_5'Flank	p.K126*	NM_003525	NP_003516	P62807	H2B1C_HUMAN			1	376	+			126					P02278|Q3B872|Q4VB69|Q93078|Q93080	Nonsense_Mutation	SNP	ENST00000377733.2	37	c.376A>T	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	11.69	1.714578	0.30413	.	.	ENSG00000168242	ENST00000377733	.	.	.	4.23	3.03	0.35002	.	0.000000	0.43110	U	0.000619	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8894	0.35423	0.8327:0.0:0.0:0.1673	.	.	.	.	X	126	.	ENSP00000366962:K126X	K	+	1	0	HIST1H2BI	26381558	1.000000	0.71417	0.916000	0.36221	0.066000	0.16364	9.087000	0.94110	0.476000	0.27440	0.383000	0.25322	AAG		0.537	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1		NM_003525		27	31	0	0	0	0.004656	0	27	31		
LY6G6F	259215	broad.mit.edu	37	6	31675751	31675751	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:31675751G>A	ENST00000375832.4	+	3	508	c.486G>A	c.(484-486)ggG>ggA	p.G162G	LY6G6F_ENST00000556581.1_Silent_p.G162G|XXbac-BPG32J3.20_ENST00000461287.1_Intron|MEGT1_ENST00000503322.1_Silent_p.G162G	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GGCAGGAAGGGAAGGGTCCCG	0.627																																						uc003nwa.1		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(484-486)GGG>GGA		G6f protein precursor							93.0	92.0	92.0					6																	31675751		1511	2709	4220	SO:0001819	synonymous_variant	259215					integral to membrane|plasma membrane		g.chr6:31675751G>A		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.486G>A	6.37:g.31675751G>A						BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Silent_p.G162G	p.G162G	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN			3	486	+			162			Extracellular (Potential).		B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Silent	SNP	ENST00000375832.4	37	c.486G>A	CCDS34403.1																																																																																				0.627	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2		NM_001003693		51	79	0	0	0	0.01441	0	51	79		
PSMB8	5696	broad.mit.edu	37	6	32809989	32809989	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:32809989C>A	ENST00000374882.3	-	4	509	c.459G>T	c.(457-459)aaG>aaT	p.K153N	PSMB9_ENST00000395330.1_5'Flank|TAPSAR1_ENST00000453426.1_lincRNA|PSMB8_ENST00000395339.3_Missense_Mutation_p.K129N|PSMB8_ENST00000374881.2_Missense_Mutation_p.K149N	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	153					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)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TGGACAGCAGCTTGGAGGCTG	0.522																																					NSCLC(48;53 1172 10859 13624 22883)	uc003oce.2		NaN																	0				skin(1)	1						c.(457-459)AAG>AAT		proteasome beta 8 subunit isoform E2 proprotein							122.0	108.0	113.0					6																	32809989		1511	2709	4220	SO:0001583	missense	5696				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|interspecies interaction between organisms|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|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32809989C>A		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.459G>T	6.37:g.32809989C>A	ENSP00000364016:p.Lys153Asn					PSMB8_uc003ocf.2_Missense_Mutation_p.K149N|PSMB8_uc011dqh.1_3'UTR	p.K153N	NM_148919	NP_683720	P28062	PSB8_HUMAN			4	502	-			153					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	c.459G>T	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798614	0.70567	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.21191	2.02;2.02;2.02	5.08	-3.03	0.05429	.	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.35276	-0.9795	10	0.72032	D	0.01	-18.2318	13.4846	0.61357	0.0:0.7739:0.0:0.2261	.	149;153	P28062-2;P28062	.;PSB8_HUMAN	N	129;153;149	ENSP00000378748:K129N;ENSP00000364016:K153N;ENSP00000364015:K149N	ENSP00000364015:K149N	K	-	3	2	PSMB8	32917967	0.999000	0.42202	0.992000	0.48379	0.932000	0.56968	0.605000	0.24179	-0.490000	0.06707	-0.152000	0.13540	AAG		0.522	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3		NM_148919		48	47	1	0	2.56175e-15	0.01441	2.78515e-15	48	47		
ZBTB9	221504	broad.mit.edu	37	6	33424237	33424237	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:33424237C>G	ENST00000395064.2	+	2	1628	c.1360C>G	c.(1360-1362)Ctc>Gtc	p.L454V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	454					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(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGCCTGTTTTCTCCGCCACCG	0.572																																						uc003oeq.2		NaN																	0					0						c.(1360-1362)CTC>GTC		zinc finger and BTB domain containing 9							69.0	73.0	72.0					6																	33424237		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33424237C>G	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.1360C>G	6.37:g.33424237C>G	ENSP00000378503:p.Leu454Val						p.L454V	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN			2	1628	+			454			C2H2-type 2; atypical.		A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.1360C>G	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530698	0.64860	.	.	ENSG00000213588	ENST00000395064	T	0.06768	3.26	5.28	5.28	0.74379	Zinc finger, C2H2-like (1);	0.460843	0.15933	U	0.237569	T	0.02807	0.0084	N	0.13272	0.32	0.31926	N	0.612761	D	0.53151	0.958	B	0.44224	0.444	T	0.51164	-0.8740	10	0.17832	T	0.49	.	16.4665	0.84080	0.0:1.0:0.0:0.0	.	454	Q96C00	ZBTB9_HUMAN	V	454	ENSP00000378503:L454V	ENSP00000378503:L454V	L	+	1	0	ZBTB9	33532215	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.658000	0.54482	2.756000	0.94617	0.655000	0.94253	CTC		0.572	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1		NM_152735		65	54	0	0	0	0.01441	0	65	54		
DAAM2	23500	broad.mit.edu	37	6	39847178	39847178	+	Silent	SNP	C	C	T	rs377713628		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:39847178C>T	ENST00000398904.2	+	14	1952	c.1770C>T	c.(1768-1770)gaC>gaT	p.D590D	DAAM2_ENST00000538976.1_Silent_p.D590D|DAAM2_ENST00000274867.4_Silent_p.D590D|RP11-61I13.3_ENST00000607675.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	590	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGCAGTGACGTCCCACTCA	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13709	0.0		0.0	False		,,,				2504	0.0					uc003oow.2		NaN																	0				ovary(2)|skin(1)	3						c.(1768-1770)GAC>GAT		dishevelled associated activator of		C	,	1,3895		0,1,1947	61.0	63.0	63.0		1770,1770	-6.8	0.0	6		63	1,8251		0,1,4125	no	coding-synonymous,coding-synonymous	DAAM2	NM_001201427.1,NM_015345.3	,	0,2,6072	TT,TC,CC		0.0121,0.0257,0.0165	,	590/1069,590/1068	39847178	2,12146	1948	4126	6074	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39847178C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1770C>T	6.37:g.39847178C>T						DAAM2_uc010jxc.2_Silent_p.D590D|DAAM2_uc003oox.2_Silent_p.D590D	p.D590D	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			14	1926	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		590			FH1.|Pro-rich.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.1770C>T	CCDS56426.1																																																																																				0.652	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1				32	39	0	0	0	0.010818	0	32	39		
GNMT	27232	broad.mit.edu	37	6	42930028	42930028	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:42930028A>G	ENST00000372808.3	+	2	295	c.285A>G	c.(283-285)gcA>gcG	p.A95A		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	95					cellular protein modification process (GO:0006464)|glycogen metabolic process (GO:0005977)|methionine metabolic process (GO:0006555)|one-carbon metabolic process (GO:0006730)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|S-adenosylmethionine metabolic process (GO:0046500)	cytoplasm (GO:0005737)	folic acid binding (GO:0005542)|glycine binding (GO:0016594)|glycine N-methyltransferase activity (GO:0017174)			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	TGAAGTATGCACTTAAGGAGC	0.592																																						uc003otd.2		NaN																	0					0						c.(283-285)GCA>GCG		glycine N-methyltransferase	Glycine(DB00145)|S-Adenosylmethionine(DB00118)						121.0	105.0	110.0					6																	42930028		2203	4300	6503	SO:0001819	synonymous_variant	27232				protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity	g.chr6:42930028A>G	AF101475	CCDS4876.1	6p12	2008-02-05			ENSG00000124713	ENSG00000124713			4415	protein-coding gene	gene with protein product		606628				10843803, 9495250	Standard	NM_018960		Approved		uc003otd.3	Q14749	OTTHUMG00000014712	ENST00000372808.3:c.285A>G	6.37:g.42930028A>G						uc003ote.1_5'Flank	p.A95A	NM_018960	NP_061833	Q14749	GNMT_HUMAN	all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		2	291	+	Colorectal(47;0.196)		95					Q5T8W2|Q9NNZ1|Q9NS24	Silent	SNP	ENST00000372808.3	37	c.285A>G	CCDS4876.1																																																																																				0.592	GNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040568.1		NM_018960		29	50	0	0	0	0.00632	0	29	50		
PKHD1	5314	broad.mit.edu	37	6	51887631	51887631	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:51887631G>A	ENST00000371117.3	-	33	5623	c.5348C>T	c.(5347-5349)tCt>tTt	p.S1783F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1783F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1783					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)					GCTGAAGGCAGACACTGTAGC	0.473																																						uc003pah.1		NaN																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(5347-5349)TCT>TTT		fibrocystin isoform 1							89.0	83.0	85.0					6																	51887631		2203	4300	6503	SO:0001583	missense	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.chr6:51887631G>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.5348C>T	6.37:g.51887631G>A	ENSP00000360158:p.Ser1783Phe					PKHD1_uc003pai.2_Missense_Mutation_p.S1783F	p.S1783F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			33	5624	-	Lung NSC(77;0.0605)		1783			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5348C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360343	0.82353	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90069	-2.21;-2.61	5.7	5.7	0.88788	Immunoglobulin-like fold (1);	0.073016	0.56097	D	0.000027	D	0.90865	0.7130	L	0.60455	1.87	0.36144	D	0.846987	D;D	0.67145	0.993;0.996	P;P	0.57548	0.747;0.823	D	0.91893	0.5525	10	0.72032	D	0.01	.	18.3965	0.90501	0.0:0.0:1.0:0.0	.	1783;1783	P08F94-2;P08F94	.;PKHD1_HUMAN	F	1783	ENSP00000360158:S1783F;ENSP00000341097:S1783F	ENSP00000341097:S1783F	S	-	2	0	PKHD1	51995590	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.905000	0.69893	2.686000	0.91538	0.591000	0.81541	TCT		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		38	40	0	0	0	0.005524	0	38	40		
KHDC1	80759	broad.mit.edu	37	6	73951907	73951907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:73951907G>A	ENST00000370384.3	-	4	885	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	KHDC1_ENST00000257765.5_Nonsense_Mutation_p.Q56*|RP11-257K9.8_ENST00000423730.3_Nonsense_Mutation_p.Q56*	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	129	KH; atypical.					integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						CTCTCCAGCTGAATAAGGGTG	0.547																																						uc003pgo.2		NaN																	0				skin(1)	1						c.(385-387)CAG>TAG		KH homology domain containing 1							85.0	86.0	86.0					6																	73951907		2040	4219	6259	SO:0001587	stop_gained	80759					integral to membrane	RNA binding	g.chr6:73951907G>A		CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.385C>T	6.37:g.73951907G>A	ENSP00000359411:p.Gln129*					KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Nonsense_Mutation_p.Q56*	p.Q129*	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN			4	886	-			129			KH; atypical.		Q5JSQ7|Q8WTV2|Q96NQ5	Nonsense_Mutation	SNP	ENST00000370384.3	37	c.385C>T	CCDS59027.1	.	.	.	.	.	.	.	.	.	.	G	37	6.232241	0.97399	.	.	ENSG00000256980;ENSG00000135314;ENSG00000135314;ENSG00000135314	ENST00000370385;ENST00000257765;ENST00000370384;ENST00000433730	.	.	.	1.93	1.93	0.25924	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.3683	0.26787	0.0:0.0:1.0:0.0	.	.	.	.	X	56;56;129;56	.	ENSP00000257765:Q56X	Q	-	1	0	RP11-257K9.7;KHDC1	74008628	0.330000	0.24705	0.350000	0.25708	0.885000	0.51271	1.002000	0.29796	1.378000	0.46305	0.561000	0.74099	CAG		0.547	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2		NM_030568		11	58	0	0	0	0.010729	0	11	58		
BACH2	60468	broad.mit.edu	37	6	90642597	90642597	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:90642597C>G	ENST00000257749.4	-	9	2763	c.2056G>C	c.(2056-2058)Gag>Cag	p.E686Q	BACH2_ENST00000343122.3_Missense_Mutation_p.E686Q|BACH2_ENST00000537989.1_Missense_Mutation_p.E686Q	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	686	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.					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)		AACAGTTTCTCTTTCTCACAC	0.473																																						uc011eab.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(2056-2058)GAG>CAG		BTB and CNC homology 1, basic leucine zipper							59.0	62.0	61.0					6																	90642597		2144	4271	6415	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90642597C>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.2056G>C	6.37:g.90642597C>G	ENSP00000257749:p.Glu686Gln					BACH2_uc003pnw.2_Missense_Mutation_p.E686Q	p.E686Q	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	9	2865	-		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)	686			Leucine-zipper.		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.2056G>C	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943881	0.53079	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	D;D;D	0.91577	-2.87;-2.87;-2.87	5.01	5.01	0.66863	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	L	0.46157	1.445	0.58432	D	0.999999	D	0.52996	0.957	P	0.50490	0.642	D	0.90000	0.4114	10	0.56958	D	0.05	-15.0661	18.676	0.91529	0.0:1.0:0.0:0.0	.	686	Q9BYV9	BACH2_HUMAN	Q	686	ENSP00000257749:E686Q;ENSP00000437473:E686Q;ENSP00000345642:E686Q	ENSP00000257749:E686Q	E	-	1	0	BACH2	90699318	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	7.722000	0.84778	2.473000	0.83533	0.561000	0.74099	GAG		0.473	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2		NM_021813		43	33	0	0	0	0.00874	0	43	33		
RTN4IP1	84816	broad.mit.edu	37	6	107040127	107040127	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:107040127C>A	ENST00000369063.3	-	6	1183	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	240						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		AGTTCACTGGCATCTTGGGAG	0.398																																						uc003prj.2		NaN																	0					0						c.(718-720)GCC>TCC		reticulon 4 interacting protein 1 precursor							119.0	106.0	111.0					6																	107040127		2203	4300	6503	SO:0001583	missense	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107040127C>A	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.718G>T	6.37:g.107040127C>A	ENSP00000358059:p.Ala240Ser					RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.A140S	p.A240S	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	6	1195	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	240					Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	c.718G>T	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360625	0.95877	.	.	ENSG00000130347	ENST00000369063	T	0.40756	1.02	5.95	5.95	0.96441	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.201879	0.49916	D	0.000135	T	0.45175	0.1329	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.17410	-1.0370	10	0.30854	T	0.27	-16.4152	20.3854	0.98941	0.0:1.0:0.0:0.0	.	240	Q8WWV3	RT4I1_HUMAN	S	240	ENSP00000358059:A240S	ENSP00000358059:A240S	A	-	1	0	RTN4IP1	107146820	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.389000	0.79806	2.825000	0.97269	0.655000	0.94253	GCC		0.398	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1				56	47	1	0	1.86277e-20	0.01441	2.04905e-20	56	47		
ROS1	6098	broad.mit.edu	37	6	117683989	117683989	+	Missense_Mutation	SNP	G	G	C	rs534570805		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:117683989G>C	ENST00000368508.3	-	21	3356	c.3158C>G	c.(3157-3159)cCa>cGa	p.P1053R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1048R	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1053	Fibronectin type-III 5. {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)		TTTTCCACTTGGTAATATAAA	0.348			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NaN		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.(3157-3159)CCA>CGA		proto-oncogene c-ros-1 protein precursor							49.0	51.0	51.0					6																	117683989		2202	4299	6501	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.chr6:117683989G>C	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.3158C>G	6.37:g.117683989G>C	ENSP00000357494:p.Pro1053Arg					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.P1053R	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)	21	3357	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1053			Fibronectin type-III 5.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3158C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	1.738	-0.492481	0.04322	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.52754	0.65;0.65	5.13	4.26	0.50523	.	0.553876	0.17584	N	0.169010	T	0.16769	0.0403	L	0.44542	1.39	0.58432	D	0.999999	B	0.32245	0.361	B	0.26416	0.069	T	0.04495	-1.0947	10	0.14252	T	0.57	.	7.6149	0.28152	0.0838:0.0:0.6732:0.243	.	1053	P08922	ROS1_HUMAN	R	1053;1048	ENSP00000357494:P1053R;ENSP00000357493:P1048R	ENSP00000357493:P1048R	P	-	2	0	ROS1	117790682	0.753000	0.28349	0.998000	0.56505	0.060000	0.15804	2.454000	0.44979	1.486000	0.48398	-0.150000	0.13652	CCA		0.348	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1				13	55	0	0	0	0.013537	0	13	55		
SOGA3	387104	broad.mit.edu	37	6	127796661	127796661	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:127796661C>G	ENST00000525778.1	-	6	3255	c.2510G>C	c.(2509-2511)aGc>aCc	p.S837T	SOGA3_ENST00000556132.1_Missense_Mutation_p.S837T|SOGA3_ENST00000368268.2_Missense_Mutation_p.S837T|SOGA3_ENST00000465909.2_Missense_Mutation_p.S837T|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.S837T			Q5TF21	SOGA3_HUMAN	SOGA family member 3	837					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GATGATGGTGCTCGTGTCGGC	0.662																																						uc003qbd.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(2509-2511)AGC>ACC		hypothetical protein LOC387104 precursor							88.0	101.0	96.0					6																	127796661		2172	4277	6449	SO:0001583	missense	387104					integral to membrane		g.chr6:127796661C>G	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2510G>C	6.37:g.127796661C>G	ENSP00000434570:p.Ser837Thr					C6orf174_uc003qbc.2_5'UTR	p.S837T	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3375	-			837						Missense_Mutation	SNP	ENST00000525778.1	37	c.2510G>C	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966062	0.53507	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.71	5.71	0.89125	.	0.224726	0.52532	N	0.000064	T	0.23133	0.0559	L	0.44542	1.39	0.53005	D	0.999964	P	0.42248	0.774	B	0.43331	0.416	T	0.01027	-1.1476	10	0.29301	T	0.29	-20.8182	19.854	0.96750	0.0:1.0:0.0:0.0	.	837	Q5TF21	CF174_HUMAN	T	837	ENSP00000451768:S837T;ENSP00000357251:S837T;ENSP00000434570:S837T;ENSP00000435559:S837T	ENSP00000435559:S837T	S	-	2	0	C6orf174	127838354	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.865000	0.56033	2.699000	0.92147	0.462000	0.41574	AGC		0.662	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1		NM_001012279		55	148	0	0	0	0.01441	0	55	148		
SAMD3	154075	broad.mit.edu	37	6	130535635	130535635	+	Missense_Mutation	SNP	T	T	C	rs200818614		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:130535635T>C	ENST00000368134.2	-	6	724	c.116A>G	c.(115-117)aAt>aGt	p.N39S	SAMD3_ENST00000324172.6_Missense_Mutation_p.N39S|SAMD3_ENST00000457563.2_Missense_Mutation_p.N63S|SAMD3_ENST00000439090.2_Missense_Mutation_p.N39S|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.N39S|SAMD3_ENST00000532763.1_Missense_Mutation_p.N39S	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	39	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.							p.N39S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CATCCGATCATTAAGTGCAAG	0.408																																						uc003qbv.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)AAT>AGT		sterile alpha motif domain containing 3 isoform							56.0	58.0	57.0					6																	130535635		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130535635T>C	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.116A>G	6.37:g.130535635T>C	ENSP00000357116:p.Asn39Ser					SAMD3_uc003qbx.2_Missense_Mutation_p.N39S|SAMD3_uc003qbw.2_Missense_Mutation_p.N39S|SAMD3_uc010kfg.1_Missense_Mutation_p.N39S|SAMD3_uc003qby.2_Missense_Mutation_p.N39S|SAMD3_uc003qbz.1_5'UTR	p.N39S	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	5	442	-			39			SAM.		B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.116A>G	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009771	0.75046	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.64	5.64	0.86602	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000005	T	0.40670	0.1126	N	0.24115	0.695	0.42989	D	0.994482	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.994;0.997	T	0.48456	-0.9034	10	0.62326	D	0.03	.	13.5964	0.61994	0.0:0.0:0.0:1.0	.	63;39;39	B4DY20;Q8N6K7-2;Q8N6K7	.;.;SAMD3_HUMAN	S	39;63;39;39;39;39;39;39;37	ENSP00000357116:N39S;ENSP00000402092:N63S;ENSP00000403565:N39S;ENSP00000391163:N39S;ENSP00000436088:N39S;ENSP00000324874:N39S;ENSP00000436115:N39S;ENSP00000435875:N39S;ENSP00000434139:N37S	ENSP00000324874:N39S	N	-	2	0	SAMD3	130577328	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.948000	0.63590	2.142000	0.66516	0.523000	0.50628	AAT		0.408	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3		NM_152552		60	58	0	0	0	0.01441	0	60	58		
SMOC2	64094	broad.mit.edu	37	6	169064760	169064760	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:169064760G>A	ENST00000356284.2	+	12	1512	c.1292G>A	c.(1291-1293)aGa>aAa	p.R431K	SMOC2_ENST00000354536.5_Missense_Mutation_p.R442K|SMOC2_ENST00000477998.1_3'UTR	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	431					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CTAGCCCCCAGAGGTCATGCT	0.299																																						uc003qws.1		NaN																	0				ovary(1)	1						c.(1291-1293)AGA>AAA		SPARC related modular calcium binding 2							48.0	49.0	48.0					6																	169064760		2203	4300	6503	SO:0001583	missense	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:169064760G>A	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.1292G>A	6.37:g.169064760G>A	ENSP00000348630:p.Arg431Lys					SMOC2_uc003qwr.1_Missense_Mutation_p.R442K|SMOC2_uc011egu.1_Missense_Mutation_p.R108K	p.R431K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	12	1312	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	431					B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	c.1292G>A	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	G	3.435	-0.115191	0.06881	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793;ENST00000392101;ENST00000538593;ENST00000417208	T;T	0.32753	1.44;1.45	3.56	2.67	0.31697	.	0.420768	0.21130	N	0.079670	T	0.04363	0.0120	N	0.14661	0.345	0.26217	N	0.979215	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.39961	-0.9588	10	0.08179	T	0.78	13.8623	6.1182	0.20137	0.1384:0.0:0.8616:0.0	.	431;442	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	K	431;442;431;108;108;51	ENSP00000348630:R431K;ENSP00000346537:R442K	ENSP00000346537:R442K	R	+	2	0	SMOC2	168806685	0.989000	0.36119	0.839000	0.33178	0.380000	0.30137	0.564000	0.23563	1.977000	0.57605	0.655000	0.94253	AGA		0.299	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1				10	73	0	0	0	0.010729	0	10	73		
INTS1	26173	broad.mit.edu	37	7	1524940	1524940	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:1524940G>C	ENST00000404767.3	-	23	3227	c.3142C>G	c.(3142-3144)Ctg>Gtg	p.L1048V	INTS1_ENST00000389470.4_Missense_Mutation_p.L1210V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1048					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCAGGGCCAGGGCTGTGGTG	0.687																																						uc003skn.2		NaN																	0					0						c.(3142-3144)CTG>GTG		integrator complex subunit 1							37.0	46.0	43.0					7																	1524940		2081	4197	6278	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1524940G>C	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3142C>G	7.37:g.1524940G>C	ENSP00000385722:p.Leu1048Val					INTS1_uc003skp.1_Missense_Mutation_p.L395V	p.L1048V	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	23	3243	-		Ovarian(82;0.0253)	1048					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.3142C>G	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.000145	0.00431	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.44482	0.92;0.97	5.13	3.27	0.37495	.	0.310233	0.30473	N	0.009543	T	0.11281	0.0275	N	0.00729	-1.24	0.09310	N	0.999994	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.30327	-0.9982	10	0.07990	T	0.79	.	7.8518	0.29459	0.1619:0.2582:0.5799:0.0	.	1216;1048	A4D213;Q8N201	.;INT1_HUMAN	V	1048;1210	ENSP00000385722:L1048V;ENSP00000374121:L1210V	ENSP00000374121:L1210V	L	-	1	2	INTS1	1491466	0.979000	0.34478	0.705000	0.30386	0.714000	0.41099	0.750000	0.26334	1.125000	0.41998	0.561000	0.74099	CTG		0.687	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1				14	89	0	0	0	0.00245	0	14	89		
NXPH1	30010	broad.mit.edu	37	7	8791209	8791209	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:8791209T>C	ENST00000405863.1	+	3	1537	c.626T>C	c.(625-627)cTc>cCc	p.L209P	NXPH1_ENST00000602349.1_Missense_Mutation_p.L92P|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	209	V (Cys-rich).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AAGAACACACTCTGCAACTAT	0.413																																						uc003srv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(625-627)CTC>CCC		neurexophilin 1 precursor							55.0	52.0	53.0					7																	8791209		1897	4118	6015	SO:0001583	missense	30010					extracellular region		g.chr7:8791209T>C	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.626T>C	7.37:g.8791209T>C	ENSP00000384551:p.Leu209Pro					NXPH1_uc011jxh.1_Missense_Mutation_p.L92P	p.L209P	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1537	+		Ovarian(82;0.0628)	209			V (Cys-rich).		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.626T>C	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844216	0.32606	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.054443	0.85682	D	0.000000	T	0.58235	0.2108	L	0.45051	1.395	0.80722	D	1	B	0.17852	0.024	B	0.26969	0.075	T	0.52419	-0.8578	9	0.32370	T	0.25	-9.8247	16.6093	0.84858	0.0:0.0:0.0:1.0	.	209	P58417	NXPH1_HUMAN	P	209;92	.	ENSP00000384551:L209P	L	+	2	0	NXPH1	8757734	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	6.264000	0.72527	2.324000	0.78689	0.533000	0.62120	CTC		0.413	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1		NM_152745		10	72	0	0	0	0.008291	0	10	72		
HECW1	23072	broad.mit.edu	37	7	43484767	43484767	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:43484767G>A	ENST00000395891.2	+	11	2601	c.1996G>A	c.(1996-1998)Ggg>Agg	p.G666R	HECW1_ENST00000453890.1_Missense_Mutation_p.G666R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	666					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGGCAAGGCGGGGACCACAG	0.692																																						uc003tid.1		NaN																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1996-1998)GGG>AGG		NEDD4-like ubiquitin-protein ligase 1							23.0	29.0	27.0					7																	43484767		2146	4232	6378	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484767G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1996G>A	7.37:g.43484767G>A	ENSP00000379228:p.Gly666Arg					HECW1_uc011kbi.1_Missense_Mutation_p.G666R	p.G666R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2601	+			666					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1996G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660477	0.67586	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.34472	1.36;1.38	4.11	3.17	0.36434	.	9.429510	0.00166	N	0.000000	T	0.41119	0.1145	L	0.36672	1.1	0.41086	D	0.985561	D;B	0.57257	0.979;0.159	P;B	0.45119	0.47;0.039	T	0.49542	-0.8929	10	0.66056	D	0.02	.	15.1442	0.72637	0.0:0.1547:0.8453:0.0	.	666;666	B4DH42;Q76N89	.;HECW1_HUMAN	R	666	ENSP00000379228:G666R;ENSP00000407774:G666R	ENSP00000265522:G666R	G	+	1	0	HECW1	43451292	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	5.076000	0.64413	2.109000	0.64355	0.563000	0.77884	GGG		0.692	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2		NM_015052		10	78	0	0	0	0.001855	0	10	78		
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G	rs201049716		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:72413896A>G	ENST00000434423.2	+	11	3364	c.3364A>G	c.(3364-3366)Acc>Gcc	p.T1122A	POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000395270.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637																																						uc003twk.2		NaN																	8	Substitution - Missense(8)		lung(4)|kidney(4)		0						c.(3364-3366)ACC>GCC		nuclear pore membrane protein 121							32.0	30.0	30.0					7																	72413896		2201	4299	6500	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413896A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3364A>G	7.37:g.72413896A>G	ENSP00000405562:p.Thr1122Ala					POM121_uc003twj.2_Missense_Mutation_p.T857A|POM121_uc010lam.1_Missense_Mutation_p.T857A	p.T1122A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	3364	+		Lung NSC(55;0.163)	1122			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.3364A>G		56	0.02564102564102564	11	0.022357723577235773	14	0.03867403314917127	19	0.033216783216783216	12	0.0158311345646438	G	2.480	-0.319876	0.05386	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05649	3.46;3.41;3.46;3.41;3.71	2.86	-2.18	0.07037	.	0.720175	0.11383	N	0.569582	T	0.00724	0.0024	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42275	-0.9461	10	0.36615	T	0.2	.	4.8571	0.13564	0.1842:0.0:0.3666:0.4491	.	857;1122	A8MXF9;Q96HA1	.;P121A_HUMAN	A	857;857;857;857;1122	ENSP00000393020:T857A;ENSP00000257622:T857A;ENSP00000378687:T857A;ENSP00000351124:T857A;ENSP00000405562:T1122A	ENSP00000257622:T857A	T	+	1	0	POM121	72051832	0.360000	0.24964	0.406000	0.26421	0.004000	0.04260	0.000000	0.12993	-0.499000	0.06623	-2.511000	0.00188	ACC		0.637	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1				5	72	0	0	0	0.001168	0	5	72		
SEMA3E	9723	broad.mit.edu	37	7	83035312	83035312	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:83035312C>T	ENST00000307792.3	-	8	1344	c.877G>A	c.(877-879)Gtt>Att	p.V293I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.V233I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	293	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACTGAGCAAACGAGTCTCGCT	0.348																																						uc003uhy.1		NaN																	0				ovary(3)	3						c.(877-879)GTT>ATT		semaphorin 3E precursor							173.0	159.0	164.0					7																	83035312		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83035312C>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.877G>A	7.37:g.83035312C>T	ENSP00000303212:p.Val293Ile						p.V293I	NM_012431	NP_036563	O15041	SEM3E_HUMAN			8	1343	-		Medulloblastoma(109;0.109)	293			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.877G>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	9.674	1.147523	0.21288	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.11385	2.78;2.78	5.63	3.84	0.44239	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.176169	0.49916	N	0.000122	T	0.06735	0.0172	N	0.20530	0.585	0.37027	D	0.896486	B	0.25441	0.126	B	0.27500	0.08	T	0.36625	-0.9740	10	0.18276	T	0.48	.	8.5563	0.33483	0.0:0.7112:0.0:0.2888	.	293	O15041	SEM3E_HUMAN	I	293;233;293	ENSP00000303212:V293I;ENSP00000405052:V233I	ENSP00000303212:V293I	V	-	1	0	SEMA3E	82873248	0.743000	0.28239	1.000000	0.80357	0.842000	0.47809	0.601000	0.24119	0.745000	0.32763	-0.133000	0.14855	GTT		0.348	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1		NM_012431		63	78	0	0	0	0.01441	0	63	78		
ZNF804B	219578	broad.mit.edu	37	7	88963539	88963539	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:88963539G>C	ENST00000333190.4	+	4	1852	c.1243G>C	c.(1243-1245)Gat>Cat	p.D415H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	415							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAATCTTTAGATAAAACAGA	0.368										HNSCC(36;0.09)																												uc011khi.1		NaN																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1243-1245)GAT>CAT		zinc finger protein 804B							43.0	48.0	46.0					7																	88963539		2202	4300	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963539G>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1243G>C	7.37:g.88963539G>C	ENSP00000329638:p.Asp415His	HNSCC(36;0.09)					p.D415H	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1781	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		415					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1243G>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616222	0.46631	.	.	ENSG00000182348	ENST00000333190	T	0.05513	3.43	5.41	3.61	0.41365	.	0.667620	0.14304	N	0.328101	T	0.11623	0.0283	L	0.46157	1.445	0.19300	N	0.99997	D	0.62365	0.991	P	0.52710	0.707	T	0.17930	-1.0353	10	0.26408	T	0.33	-0.8843	11.6061	0.51033	0.1421:0.0:0.8579:0.0	.	415	A4D1E1	Z804B_HUMAN	H	415	ENSP00000329638:D415H	ENSP00000329638:D415H	D	+	1	0	ZNF804B	88801475	0.262000	0.24073	0.023000	0.16930	0.982000	0.71751	1.491000	0.35583	0.857000	0.35407	0.655000	0.94253	GAT		0.368	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2		NM_181646		9	94	0	0	0	0.004482	0	9	94		
SRRT	51593	broad.mit.edu	37	7	100485476	100485476	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:100485476C>T	ENST00000347433.4	+	17	2480	c.2322C>T	c.(2320-2322)gcC>gcT	p.A774A	SRRT_ENST00000432932.1_Silent_p.A773A|SRRT_ENST00000388793.4_Silent_p.A773A|SRRT_ENST00000457580.2_Silent_p.A774A			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	774	Pro-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTGGCCCCGCCCAGAGTAAGA	0.532																																						uc003uwy.2		NaN																	0				ovary(2)	2						c.(2320-2322)GCC>GCT		arsenate resistance protein 2 isoform a							54.0	61.0	59.0					7																	100485476		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100485476C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2322C>T	7.37:g.100485476C>T						SRRT_uc010lhl.1_Silent_p.A773A|SRRT_uc003uxa.2_Silent_p.A773A|SRRT_uc003uwz.2_Silent_p.A774A	p.A774A	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			18	2590	+			774			Pro-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.2322C>T	CCDS34709.1																																																																																				0.532	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1		NM_015908		5	150	0	0	0	0.000602	0	5	150		
WNT2	7472	broad.mit.edu	37	7	116960744	116960744	+	Missense_Mutation	SNP	G	G	A	rs376068978		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:116960744G>A	ENST00000265441.3	-	2	486	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	63					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTAATGGCACGCATCACATCT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19504	0.001		0.0	False		,,,				2504	0.0					uc003viz.2		NaN																	0				breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(187-189)CGT>TGT		wingless-type MMTV integration site family		G	CYS/ARG	0,4406		0,0,2203	66.0	53.0	57.0		187	5.4	1.0	7		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	WNT2	NM_003391.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	63/361	116960744	1,13005	2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960744G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.187C>T	7.37:g.116960744G>A	ENSP00000265441:p.Arg63Cys					WNT2_uc003vja.2_5'UTR	p.R63C	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	487	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		63					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.187C>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552974	0.86127	0.0	1.16E-4	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76316	-1.01;-1.01	5.42	5.42	0.78866	.	0.112301	0.64402	D	0.000005	D	0.84174	0.5414	M	0.62723	1.935	0.80722	D	1	D	0.58620	0.983	P	0.56788	0.806	T	0.82855	-0.0251	10	0.38643	T	0.18	.	18.5879	0.91197	0.0:0.0:1.0:0.0	.	63	P09544	WNT2_HUMAN	C	63	ENSP00000265441:R63C;ENSP00000419466:R63C	ENSP00000265441:R63C	R	-	1	0	WNT2	116747980	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	9.386000	0.97228	2.691000	0.91804	0.655000	0.94253	CGT		0.607	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3		NM_003391		35	6	0	0	0	0.013726	0	35	6		
OPN1SW	611	broad.mit.edu	37	7	128415628	128415628	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:128415628G>C	ENST00000249389.2	-	1	216	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	73					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ACGTTGACCAGAATGTAGTTG	0.537																																						uc003vnt.3		NaN																	0					0						c.(217-219)CTG>GTG		opsin 1 (cone pigments), short-wave-sensitive							118.0	126.0	123.0					7																	128415628		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415628G>C	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.217C>G	7.37:g.128415628G>C	ENSP00000249389:p.Leu73Val						p.L73V	NM_001708	NP_001699	P03999	OPSB_HUMAN			1	217	-			73			Helical; Name=2; (Potential).		Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.217C>G	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314197	0.40996	.	.	ENSG00000128617	ENST00000249389	T	0.51574	0.7	5.35	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.66297	0.2775	M	0.81614	2.55	0.51482	D	0.999926	D	0.76494	0.999	D	0.91635	0.999	T	0.69643	-0.5090	10	0.87932	D	0	.	9.1102	0.36723	0.1904:0.0:0.8096:0.0	.	73	P03999	OPSB_HUMAN	V	73	ENSP00000249389:L73V	ENSP00000249389:L73V	L	-	1	2	OPN1SW	128202864	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	1.794000	0.38774	1.493000	0.48517	0.655000	0.94253	CTG		0.537	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1		NM_001708		174	41	0	0	0	0.01441	0	174	41		
FLNC	2318	broad.mit.edu	37	7	128481267	128481267	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:128481267C>A	ENST00000325888.8	+	12	2118	c.1857C>A	c.(1855-1857)gaC>gaA	p.D619E	FLNC_ENST00000346177.6_Missense_Mutation_p.D619E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	619					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGAATGTGACGACAAGGGGG	0.627																																						uc003vnz.3		NaN																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(1855-1857)GAC>GAA		gamma filamin isoform a							126.0	133.0	130.0					7																	128481267		2140	4233	6373	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128481267C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1857C>A	7.37:g.128481267C>A	ENSP00000327145:p.Asp619Glu					FLNC_uc003voa.3_Missense_Mutation_p.D619E	p.D619E	NM_001458	NP_001449	Q14315	FLNC_HUMAN			12	2066	+			619			Filamin 4.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1857C>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908527	0.33721	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84223	-1.82;-1.82	5.2	2.81	0.32909	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.114112	0.56097	D	0.000024	T	0.66197	0.2765	N	0.01771	-0.73	0.41453	D	0.987994	B;B	0.33288	0.406;0.0	B;B	0.38428	0.273;0.018	T	0.60151	-0.7319	10	0.30078	T	0.28	.	9.536	0.39222	0.0:0.1435:0.0:0.8565	.	619;619	Q14315-2;Q14315	.;FLNC_HUMAN	E	619	ENSP00000327145:D619E;ENSP00000344002:D619E	ENSP00000327145:D619E	D	+	3	2	FLNC	128268503	0.017000	0.18338	1.000000	0.80357	0.808000	0.45660	-1.000000	0.03693	0.315000	0.23110	-1.564000	0.00881	GAC		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3				15	191	1	0	2.48551e-13	0.00499	2.66355e-13	15	191		
C7orf33	202865	broad.mit.edu	37	7	148288208	148288208	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:148288208C>A	ENST00000307003.2	+	1	552	c.191C>A	c.(190-192)aCg>aAg	p.T64K		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	64								p.T64M(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCATATGCCACGGGAAGACAT	0.473																																						uc003wew.2		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(190-192)ACG>AAG		hypothetical protein LOC202865							92.0	77.0	82.0					7																	148288208		2203	4300	6503	SO:0001583	missense	202865							g.chr7:148288208C>A	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.191C>A	7.37:g.148288208C>A	ENSP00000304071:p.Thr64Lys						p.T64K	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	552	+	Melanoma(164;0.15)		64						Missense_Mutation	SNP	ENST00000307003.2	37	c.191C>A	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885673	0.17540	.	.	ENSG00000170279	ENST00000307003	.	.	.	2.93	1.06	0.20224	.	.	.	.	.	T	0.23210	0.0561	N	0.14661	0.345	0.09310	N	1	D	0.56287	0.975	P	0.51742	0.678	T	0.10086	-1.0645	8	0.87932	D	0	.	4.1941	0.10435	0.0:0.6221:0.2407:0.1372	.	64	Q8WU49	CG033_HUMAN	K	64	.	ENSP00000304071:T64K	T	+	2	0	C7orf33	147919141	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.586000	0.05787	0.286000	0.22352	-0.312000	0.09012	ACG		0.473	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1		NM_145304		101	27	1	0	5.77035e-48	0.01441	6.66083e-48	101	27		
MSR1	4481	broad.mit.edu	37	8	15978045	15978045	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:15978045G>T	ENST00000262101.5	-	9	1225	c.1104C>A	c.(1102-1104)agC>agA	p.S368R	MSR1_ENST00000350896.3_Intron|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.S386R			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	368	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCCACTGGCCGCTGTGGAGTA	0.517																																						uc003wwz.2		NaN																	0				ovary(1)	1						c.(1102-1104)AGC>AGA		macrophage scavenger receptor 1 isoform type 1							96.0	96.0	96.0					8																	15978045		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15978045G>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1104C>A	8.37:g.15978045G>T	ENSP00000262101:p.Ser368Arg					MSR1_uc010lsu.2_Missense_Mutation_p.S386R|MSR1_uc003wxa.2_Intron	p.S368R	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	9	1302	-			368			SRCR.|Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.1104C>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	5.669	0.308009	0.10733	.	.	ENSG00000038945	ENST00000262101;ENST00000445506	T;T	0.28454	1.61;1.61	4.84	-9.68	0.00528	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	2.038950	0.02420	N	0.082466	T	0.11922	0.0290	N	0.05158	-0.105	0.37481	D	0.915997	B;B	0.21225	0.053;0.053	B;B	0.20384	0.029;0.029	T	0.07712	-1.0758	10	0.41790	T	0.15	.	3.3492	0.07146	0.126:0.1775:0.4225:0.274	.	386;368	B4DDJ5;P21757	.;MSRE_HUMAN	R	368;386	ENSP00000262101:S368R;ENSP00000405453:S386R	ENSP00000262101:S368R	S	-	3	2	MSR1	16022416	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-3.914000	0.00335	-2.463000	0.00535	-0.768000	0.03414	AGC		0.517	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2				49	10	1	0	1.61004e-24	0.01441	1.79213e-24	49	10		
KCNU1	157855	broad.mit.edu	37	8	36693884	36693884	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:36693884G>A	ENST00000399881.3	+	13	1402		c.e13+1			NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1						multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCATAACAAGGTATAGTAACA	0.333																																						uc010lvw.2		NaN																	0				ovary(1)	1						c.e13+1		potassium channel, subfamily U, member 1							142.0	136.0	138.0					8																	36693884		1835	4087	5922	SO:0001630	splice_region_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36693884G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1365+1G>A	8.37:g.36693884G>A						KCNU1_uc003xjw.2_Splice_Site	p.K455_splice	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	13	1452	+									Splice_Site	SNP	ENST00000399881.3	37	c.1365_splice	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931031	0.52866	.	.	ENSG00000215262	ENST00000399881	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2771	0.94036	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNU1	36813042	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	8.702000	0.91338	2.719000	0.93026	0.555000	0.69702	.		0.333	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836	Intron	3	21	0	0	0	0.004672	0	3	21		
ZFHX4	79776	broad.mit.edu	37	8	77763532	77763532	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:77763532C>T	ENST00000521891.2	+	10	4823	c.4375C>T	c.(4375-4377)Cta>Tta	p.L1459L	ZFHX4_ENST00000455469.2_Silent_p.L1414L|ZFHX4_ENST00000518282.1_Silent_p.L1433L|ZFHX4_ENST00000050961.6_Silent_p.L1414L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTCAACAGCTATATGCCTC	0.493										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4240-4242)CTA>TTA		zinc finger homeodomain 4							44.0	42.0	43.0					8																	77763532		1999	4174	6173	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763532C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4375C>T	8.37:g.77763532C>T		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.L1459L|ZFHX4_uc003yaw.1_Silent_p.L1414L	p.L1414L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4627	+			1414					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.4240C>T	CCDS47878.2																																																																																				0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		13	38	0	0	0	0.001855	0	13	38		
VPS13B	157680	broad.mit.edu	37	8	100443874	100443874	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:100443874G>A	ENST00000358544.2	+	22	3303	c.3192G>A	c.(3190-3192)gtG>gtA	p.V1064V	VPS13B_ENST00000395996.1_Silent_p.V1064V|VPS13B_ENST00000357162.2_Silent_p.V1064V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1064					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGAATGCAGTGAAGCATCTCA	0.308																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(3190-3192)GTG>GTA		vacuolar protein sorting 13B isoform 5							68.0	73.0	72.0					8																	100443874		2202	4300	6502	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100443874G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3192G>A	8.37:g.100443874G>A						VPS13B_uc003yiw.2_Silent_p.V1064V|VPS13B_uc003yiu.1_Silent_p.V1064V|VPS13B_uc003yix.1_Silent_p.V534V	p.V1064V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		22	3303	+	Breast(36;3.73e-07)		1064					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.3192G>A	CCDS6280.1																																																																																				0.308	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		18	54	0	0	0	0.00499	0	18	54		
PKHD1L1	93035	broad.mit.edu	37	8	110457235	110457235	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:110457235G>A	ENST00000378402.5	+	38	5241	c.5137G>A	c.(5137-5139)Gaa>Aaa	p.E1713K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1713	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTGAATGTGAAACATCCCC	0.443										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5137-5139)GAA>AAA		fibrocystin L precursor							199.0	193.0	195.0					8																	110457235		1916	4124	6040	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457235G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5137G>A	8.37:g.110457235G>A	ENSP00000367655:p.Glu1713Lys	HNSCC(38;0.096)					p.E1713K	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5241	+			1713			IPT/TIG 9.|Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5137G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045962	0.75846	.	.	ENSG00000205038	ENST00000378402	T	0.76578	-1.03	6.17	6.17	0.99709	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.117815	0.56097	D	0.000028	T	0.73016	0.3533	L	0.35723	1.085	0.43719	D	0.996196	B	0.32968	0.392	B	0.37989	0.262	T	0.66740	-0.5847	10	0.18710	T	0.47	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	1713	Q86WI1	PKHL1_HUMAN	K	1713	ENSP00000367655:E1713K	ENSP00000367655:E1713K	E	+	1	0	PKHD1L1	110526411	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	6.022000	0.70839	2.941000	0.99782	0.655000	0.94253	GAA		0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		9	283	0	0	0	0.006214	0	9	283		
CSMD3	114788	broad.mit.edu	37	8	114327003	114327003	+	Silent	SNP	A	A	T	rs148820468		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:114327003A>T	ENST00000297405.5	-	2	442	c.198T>A	c.(196-198)ggT>ggA	p.G66G	CSMD3_ENST00000352409.3_Silent_p.G66G|CSMD3_ENST00000455883.2_Silent_p.G66G|CSMD3_ENST00000343508.3_Silent_p.G26G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	66	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTAAAGTTCCACCACATGTAT	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A|||	1	0.000199681	0.0008	0.0	5008	,	,		14824	0.0		0.0	False		,,,				2504	0.0					uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(196-198)GGT>GGA		CUB and Sushi multiple domains 3 isoform 1		A	,,	1,4405	2.1+/-5.4	0,1,2202	93.0	95.0	95.0		198,198,78	3.5	1.0	8	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	,,	66/3539,66/3708,26/3668	114327003	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114327003A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.198T>A	8.37:g.114327003A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Silent_p.G26G|CSMD3_uc011lhx.1_Silent_p.G66G|CSMD3_uc010mcx.1_Silent_p.G66G|CSMD3_uc003ynx.3_Silent_p.G66G	p.G66G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	357	-			66			Extracellular (Potential).|CUB 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.198T>A	CCDS6315.1																																																																																				0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		29	63	0	0	0	0.00632	0	29	63		
FAM84B	157638	broad.mit.edu	37	8	127569335	127569335	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:127569335G>C	ENST00000304916.3	-	2	755	c.300C>G	c.(298-300)ggC>ggG	p.G100G	RP11-89K10.1_ENST00000519880.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	100						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GCGCCGCCGAGCCCGGCGCGA	0.657																																						uc003yrz.1		NaN																	0					0						c.(298-300)GGC>GGG		family with sequence similarity 84, member B																																				SO:0001819	synonymous_variant	157638					cytoplasm|plasma membrane	protein binding	g.chr8:127569335G>C	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.300C>G	8.37:g.127569335G>C							p.G100G	NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		2	584	-	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		100						Silent	SNP	ENST00000304916.3	37	c.300C>G	CCDS6358.1																																																																																				0.657	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1		NM_174911		48	21	0	0	0	0.01441	0	48	21		
PLEC	5339	broad.mit.edu	37	8	144992886	144992886	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:144992886C>G	ENST00000322810.4	-	32	11683	c.11514G>C	c.(11512-11514)agG>agC	p.R3838S	PLEC_ENST00000354958.2_Missense_Mutation_p.R3679S|PLEC_ENST00000345136.3_Missense_Mutation_p.R3701S|PLEC_ENST00000357649.2_Missense_Mutation_p.R3705S|PLEC_ENST00000527096.1_Missense_Mutation_p.R3724S|PLEC_ENST00000356346.3_Missense_Mutation_p.R3687S|PLEC_ENST00000436759.2_Missense_Mutation_p.R3728S|PLEC_ENST00000354589.3_Missense_Mutation_p.R3701S|PLEC_ENST00000398774.2_Missense_Mutation_p.R3669S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3838	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCAGTGTCTGCCTGGAACCGG	0.662																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11512-11514)AGG>AGC		plectin isoform 1							21.0	28.0	26.0					8																	144992886		1960	4131	6091	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144992886C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11514G>C	8.37:g.144992886C>G	ENSP00000323856:p.Arg3838Ser					PLEC_uc003zab.1_Missense_Mutation_p.R3701S|PLEC_uc003zac.1_Missense_Mutation_p.R3705S|PLEC_uc003zad.2_Missense_Mutation_p.R3701S|PLEC_uc003zae.1_Missense_Mutation_p.R3669S|PLEC_uc003zag.1_Missense_Mutation_p.R3679S|PLEC_uc003zah.2_Missense_Mutation_p.R3687S|PLEC_uc003zaj.2_Missense_Mutation_p.R3728S	p.R3838S	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11684	-			3838			Globular 2.|Plectin 17.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11514G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	4.317	0.058081	0.08339	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	3.8	2.92	0.33932	.	0.784234	0.11162	U	0.592974	T	0.48059	0.1479	N	0.08118	0	0.34078	D	0.659253	B;B;B;B;B;B;B;B	0.25772	0.11;0.065;0.065;0.134;0.065;0.065;0.11;0.11	B;B;B;B;B;B;B;B	0.23018	0.025;0.025;0.025;0.043;0.025;0.025;0.025;0.025	T	0.53500	-0.8430	10	0.46703	T	0.11	.	6.6156	0.22774	0.0:0.696:0.0:0.304	.	3728;3687;3679;3838;3669;3701;3705;3701	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	3701;3705;3701;3669;3838;3679;3687;3728;3724	ENSP00000344848:R3701S;ENSP00000350277:R3705S;ENSP00000346602:R3701S;ENSP00000381756:R3669S;ENSP00000323856:R3838S;ENSP00000347044:R3679S;ENSP00000348702:R3687S;ENSP00000388180:R3728S;ENSP00000434583:R3724S	ENSP00000323856:R3838S	R	-	3	2	PLEC	145064874	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	1.852000	0.39348	0.928000	0.37168	0.448000	0.29417	AGG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		22	88	0	0	0	0.014323	0	22	88		
GPT	2875	broad.mit.edu	37	8	145731256	145731256	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:145731256C>T	ENST00000528431.1	+	7	922	c.765C>T	c.(763-765)atC>atT	p.I255I	GPT_ENST00000394955.2_Silent_p.I255I			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	255					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	GCGAGTGCATCGAGGCCGTGA	0.736																																						uc011lli.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(763-765)ATC>ATT		glutamic pyruvate transaminase	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						18.0	24.0	22.0					8																	145731256		2133	4183	6316	SO:0001819	synonymous_variant	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145731256C>T		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.765C>T	8.37:g.145731256C>T						GPT_uc011llj.1_Silent_p.I255I|GPT_uc003zdh.3_Silent_p.I255I	p.I255I	NM_005309	NP_005300	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		7	922	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		255					B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	ENST00000528431.1	37	c.765C>T	CCDS6430.1																																																																																				0.736	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1				5	12	0	0	0	0.001168	0	5	12		
DMRT2	10655	broad.mit.edu	37	9	1056399	1056399	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:1056399C>G	ENST00000358146.2	+	3	812	c.812C>G	c.(811-813)cCc>cGc	p.P271R	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.P271R|DMRT2_ENST00000302441.6_Missense_Mutation_p.P271R|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	271					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTGTTTCTGCCCAACCGCATG	0.473																																						uc003zha.2		NaN																	0					0						c.(811-813)CCC>CGC		doublesex and mab-3 related transcription factor							97.0	93.0	94.0					9																	1056399		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056399C>G	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.812C>G	9.37:g.1056399C>G	ENSP00000350865:p.Pro271Arg					DMRT2_uc003zgx.3_Missense_Mutation_p.P38R|DMRT2_uc010mgz.2_Missense_Mutation_p.P38R|DMRT2_uc003zgy.3_Missense_Mutation_p.P115R|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.P271R	p.P271R	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	4	1012	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	271					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.812C>G	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709070	0.68615	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.59224	0.28;0.28;0.28	5.53	5.53	0.82687	.	0.330826	0.33199	N	0.005165	T	0.75774	0.3895	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76323	-0.3001	10	0.56958	D	0.05	-16.1107	19.0733	0.93148	0.0:1.0:0.0:0.0	.	271;115	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	R	271	ENSP00000371686:P271R;ENSP00000305785:P271R;ENSP00000350865:P271R	ENSP00000305785:P271R	P	+	2	0	DMRT2	1046399	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.294000	0.78760	2.617000	0.88574	0.585000	0.79938	CCC		0.473	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1		NM_006557		21	154	0	0	0	0.010504	0	21	154		
SMARCA2	6595	broad.mit.edu	37	9	2104016	2104016	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:2104016C>T	ENST00000382203.1	+	23	3348	c.3139C>T	c.(3139-3141)Cgg>Tgg	p.R1047W	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1047W|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1047W|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1047W			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1047					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAACTGTATCGGGCCTCAGG	0.418																																						uc003zhc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3139-3141)CGG>TGG		SWI/SNF-related matrix-associated							183.0	175.0	177.0					9																	2104016		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2104016C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3139C>T	9.37:g.2104016C>T	ENSP00000371638:p.Arg1047Trp					SMARCA2_uc003zhd.2_Missense_Mutation_p.R1047W|SMARCA2_uc010mha.2_Missense_Mutation_p.R980W	p.R1047W	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	23	3238	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1047					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3139C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515835	0.85495	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.69	4.76	0.60689	.	0.000000	0.64402	D	0.000001	D	0.88640	0.6491	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.99	D	0.90751	0.4657	10	0.87932	D	0	-29.1988	13.7999	0.63192	0.2748:0.7251:0.0:0.0	.	648;1047;1047	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	W	1047	ENSP00000265773:R1047W;ENSP00000349788:R1047W;ENSP00000371638:R1047W;ENSP00000371629:R1047W	ENSP00000265773:R1047W	R	+	1	2	SMARCA2	2094016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.105000	0.50314	2.683000	0.91414	0.563000	0.77884	CGG		0.418	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070		120	93	0	0	0	0.01441	0	120	93		
TMEM261	90871	broad.mit.edu	37	9	7798477	7798477	+	3'UTR	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:7798477C>T	ENST00000358227.4	-	0	767				TMEM261_ENST00000484082.1_5'UTR	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261							integral component of membrane (GO:0016021)											TGTCCATGTACAAGTGTCTGT	0.443																																						uc003zki.2		NaN																	0					0						c.(349-351)GTA>ATA		Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867.																																				SO:0001624	3_prime_UTR_variant	90871					integral to membrane		g.chr9:7798477C>T	BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 123"""	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.*96G>A	9.37:g.7798477C>T						C9orf123_uc003zkj.2_3'UTR	p.V117I			Q96GE9	CI123_HUMAN		GBM - Glioblastoma multiforme(50;0.0561)	2	393	-		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)	Error:Variant_position_missing_in_Q96GE9_after_alignment					A8K9B7|Q5T6Y9|Q9NT74	Missense_Mutation	SNP	ENST00000358227.4	37	c.349G>A	CCDS34989.1																																																																																				0.443	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051705.1		NM_033428		15	29	0	0	0	0.00245	0	15	29		
TAF1L	138474	broad.mit.edu	37	9	32634258	32634258	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:32634258G>C	ENST00000242310.4	-	1	1409	c.1320C>G	c.(1318-1320)atC>atG	p.I440M	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	440					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTTGTGTTTGATATCCTCCC	0.468																																						uc003zrg.1		NaN																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1318-1320)ATC>ATG		TBP-associated factor RNA polymerase 1-like							224.0	206.0	212.0					9																	32634258		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634258G>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1320C>G	9.37:g.32634258G>C	ENSP00000418379:p.Ile440Met					uc003zrh.1_RNA	p.I440M	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1410	-			440					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1320C>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652237	0.29336	.	.	ENSG00000122728	ENST00000242310	T	0.11063	2.81	0.479	0.479	0.16796	.	0.061993	0.64402	D	0.000004	T	0.11750	0.0286	L	0.45352	1.415	0.24839	N	0.992473	B	0.29716	0.255	B	0.42692	0.395	T	0.21042	-1.0257	10	0.72032	D	0.01	.	3.4488	0.07490	1.0E-4:1.0E-4:0.5509:0.449	.	440	Q8IZX4	TAF1L_HUMAN	M	440	ENSP00000418379:I440M	ENSP00000418379:I440M	I	-	3	3	TAF1L	32624258	1.000000	0.71417	0.994000	0.49952	0.609000	0.37215	0.485000	0.22324	0.507000	0.28148	0.195000	0.17529	ATC		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2				213	143	0	0	0	0.01441	0	213	143		
ANKS6	203286	broad.mit.edu	37	9	101536318	101536318	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:101536318C>T	ENST00000353234.4	-	9	1709	c.1662G>A	c.(1660-1662)ctG>ctA	p.L554L	ANKS6_ENST00000375019.2_Silent_p.L253L|ANKS6_ENST00000540940.1_Silent_p.L359L|ANKS6_ENST00000375018.1_Silent_p.L554L			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	554						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGACTGCTTTCAGCTTGTCAC	0.582																																						uc004ayu.2		NaN																	0				ovary(2)	2						c.(1660-1662)CTG>CTA		ankyrin repeat and sterile alpha motif domain							42.0	48.0	46.0					9																	101536318		1930	4134	6064	SO:0001819	synonymous_variant	203286							g.chr9:101536318C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1662G>A	9.37:g.101536318C>T						ANKS6_uc004ayt.2_Silent_p.L253L|ANKS6_uc004ayv.1_Silent_p.L16L|ANKS6_uc004ayw.1_Silent_p.L136L|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	p.L554L	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			9	1683	-		Acute lymphoblastic leukemia(62;0.0527)	554					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.1662G>A	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287742	0.23478	.	.	ENSG00000165138	ENST00000444472	.	.	.	5.48	3.62	0.41486	.	.	.	.	.	T	0.61261	0.2333	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56811	-0.7917	4	.	.	.	-13.0884	10.5287	0.44965	0.0:0.8419:0.0:0.1581	.	.	.	.	K	23	.	.	E	-	1	0	ANKS6	100576139	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.592000	0.36676	0.670000	0.31165	0.561000	0.74099	GAA		0.582	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1		NM_173551		15	45	0	0	0	0.007413	0	15	45		
NEK6	10783	broad.mit.edu	37	9	127113225	127113225	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:127113225G>A	ENST00000320246.5	+	10	1086	c.941G>A	c.(940-942)tGa>tAa	p.*314*	NEK6_ENST00000539416.1_Silent_p.*339*|NEK6_ENST00000373603.1_Silent_p.*314*|NEK6_ENST00000545174.1_Silent_p.*314*|NEK6_ENST00000373600.3_Silent_p.*348*|PSMB7_ENST00000498485.1_5'Flank|NEK6_ENST00000540326.1_Silent_p.*332*|AL137846.1_ENST00000583657.1_RNA|NEK6_ENST00000394199.2_Silent_p.*348*|NEK6_ENST00000546191.1_Silent_p.*314*	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	0					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						TCCAGCACCTGAGCGTGGATG	0.562																																					NSCLC(122;934 1785 18647 44295 45571)	uc004bog.2		NaN																	0				ovary(2)|kidney(1)	3						c.(940-942)TGA>TAA		NIMA-related kinase 6 isoform 2							93.0	66.0	75.0					9																	127113225		2203	4300	6503	SO:0001819	synonymous_variant	10783				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	g.chr9:127113225G>A	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.941G>A	9.37:g.127113225G>A						NEK6_uc004bof.2_Silent_p.*332*|NEK6_uc004boh.2_Silent_p.*348*|NEK6_uc010mwj.2_Silent_p.*267*|NEK6_uc010mwk.2_Silent_p.*314*|NEK6_uc004boi.2_Silent_p.*314*|LOC100129034_uc010mwl.2_5'Flank	p.*314*	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN			10	1090	+			314					B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Silent	SNP	ENST00000320246.5	37	c.941G>A	CCDS6854.1																																																																																				0.562	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1		NM_014397		25	41	0	0	0	0.003954	0	25	41		
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:137328351C>A	ENST00000481739.1	+	10	1332	c.1280C>A	c.(1279-1281)tCc>tAc	p.S427Y	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.S330Y	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCTCTGCGCTCCATCGGGCTC	0.607																																						uc004cfb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1279-1281)TCC>TAC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						132.0	117.0	122.0					9																	137328351		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328351C>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1280C>A	9.37:g.137328351C>A	ENSP00000419692:p.Ser427Tyr					RXRA_uc004cfc.1_Missense_Mutation_p.S330Y	p.S427Y	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	10	1442	+			427			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.1280C>A	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763145	0.89932	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96913	-4.17;-4.17	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99823	1.1048	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	427	P19793	RXRA_HUMAN	Y	427;330	ENSP00000419692:S427Y;ENSP00000442123:S330Y	ENSP00000419692:S427Y	S	+	2	0	RXRA	136468172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.532000	0.81985	2.193000	0.70182	0.591000	0.81541	TCC		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		73	47	1	0	5.05997e-48	0.01441	5.85891e-48	73	47		
COL5A1	1289	broad.mit.edu	37	9	137704337	137704337	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:137704337G>A	ENST00000371817.3	+	47	4147	c.3733G>A	c.(3733-3735)Gtg>Atg	p.V1245M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1245	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACAGGAGACGTGGGCCAGAT	0.537																																						uc004cfe.2		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(3733-3735)GTG>ATG		alpha 1 type V collagen preproprotein							123.0	92.0	102.0					9																	137704337		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137704337G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3733G>A	9.37:g.137704337G>A	ENSP00000360882:p.Val1245Met						p.V1245M	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	47	4115	+		Myeloproliferative disorder(178;0.0341)	1245			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3733G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860957	0.71949	.	.	ENSG00000130635	ENST00000371817	D	0.94280	-3.39	4.77	4.77	0.60923	.	0.000000	0.64402	U	0.000002	D	0.92825	0.7718	N	0.16066	0.365	0.58432	D	0.999999	D	0.89917	1.0	D	0.63957	0.92	D	0.94555	0.7757	10	0.66056	D	0.02	.	17.7817	0.88526	0.0:0.0:1.0:0.0	.	1245	P20908	CO5A1_HUMAN	M	1245	ENSP00000360882:V1245M	ENSP00000360882:V1245M	V	+	1	0	COL5A1	136844158	1.000000	0.71417	0.992000	0.48379	0.932000	0.56968	9.747000	0.98863	2.200000	0.70718	0.643000	0.83706	GTG		0.537	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		45	35	0	0	0	0.01441	0	45	35		
DHRSX	207063	broad.mit.edu	37	X	2209621	2209621	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:2209621C>T	ENST00000334651.5	-	4	362	c.310G>A	c.(310-312)Gct>Act	p.A104T		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	104							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTCATGGAAGCCAAGTCACAG	0.398																																						uc004cqf.3		NaN																	0					0						c.(310-312)GCT>ACT		dehydrogenase/reductase (SDR family) X-linked							209.0	207.0	208.0					X																	2209621		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2209621C>T	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.310G>A	X.37:g.2209621C>T	ENSP00000334113:p.Ala104Thr						p.A104T	NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN			4	359	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	104					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.310G>A	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383226	0.25031	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	T;T;T	0.19938	2.11;2.11;2.11	2.19	1.28	0.21552	NAD(P)-binding domain (1);	0.076843	0.52532	U	0.000065	T	0.20536	0.0494	L	0.37466	1.105	0.20489	N	0.999898	D	0.52996	0.957	P	0.49561	0.615	T	0.08351	-1.0726	10	0.87932	D	0	.	8.1881	0.31352	0.0:0.8578:0.0:0.1422	.	104	Q8N5I4	DHRSX_HUMAN	T	104;81;37	ENSP00000334113:A104T;ENSP00000391778:A81T;ENSP00000402741:A37T	ENSP00000334113:A104T	A	-	1	0	DHRSX	2219621	1.000000	0.71417	0.188000	0.23233	0.069000	0.16628	2.116000	0.41930	0.012000	0.14892	-0.815000	0.03128	GCT		0.398	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3		NM_145177		186	150	0	0	0	0.01441	0	186	150		
STS	412	broad.mit.edu	37	X	7175544	7175544	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:7175544C>T	ENST00000217961.4	+	4	532	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	104					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	TTTTCCTCTTCACAGCCTCTT	0.498									Ichthyosis																													uc004cry.3		NaN																	0				central_nervous_system(1)	1						c.(310-312)TTC>TTT		steryl-sulfatase precursor	Estrone(DB00655)						112.0	90.0	98.0					X																	7175544		2203	4299	6502	SO:0001819	synonymous_variant	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7175544C>T	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.312C>T	X.37:g.7175544C>T							p.F104F	NM_000351	NP_000342	P08842	STS_HUMAN			4	557	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	104			Lumenal.		B2RA47	Silent	SNP	ENST00000217961.4	37	c.312C>T	CCDS14127.1																																																																																				0.498	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1		NM_000351		4	69	0	0	0	0.009096	0	4	69		
MOSPD2	158747	broad.mit.edu	37	X	14932633	14932633	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:14932633A>C	ENST00000380492.3	+	11	1089	c.1001A>C	c.(1000-1002)gAa>gCa	p.E334A	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.E334A	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	334	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGCCCAGCAGAAGAACTGTAC	0.299																																						uc004cwi.2		NaN																	0				lung(1)	1						c.(1000-1002)GAA>GCA		motile sperm domain containing 2							52.0	49.0	50.0					X																	14932633		2203	4294	6497	SO:0001583	missense	158747					integral to membrane	structural molecule activity	g.chrX:14932633A>C	AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1001A>C	X.37:g.14932633A>C	ENSP00000369860:p.Glu334Ala					MOSPD2_uc004cwj.2_Missense_Mutation_p.E271A	p.E334A	NM_152581	NP_689794	Q8NHP6	MSPD2_HUMAN			11	1089	+	Hepatocellular(33;0.183)		334			MSP.		Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	c.1001A>C	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.404547	0.62288	.	.	ENSG00000130150	ENST00000380492	T	0.65178	-0.14	5.52	5.52	0.82312	PapD-like (2);	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80151	-0.1502	10	0.56958	D	0.05	.	13.7596	0.62956	1.0:0.0:0.0:0.0	.	334	Q8NHP6	MSPD2_HUMAN	A	334	ENSP00000369860:E334A	ENSP00000369860:E334A	E	+	2	0	MOSPD2	14842554	1.000000	0.71417	0.994000	0.49952	0.435000	0.31806	8.460000	0.90369	1.962000	0.57031	0.412000	0.27726	GAA		0.299	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1		NM_152581		31	2	0	0	0	0.013726	0	31	2		
RNF128	79589	broad.mit.edu	37	X	106038818	106038818	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:106038818C>G	ENST00000255499.2	+	7	1412	c.1162C>G	c.(1162-1164)Cta>Gta	p.L388V	RNF128_ENST00000324342.3_Missense_Mutation_p.L362V	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	388					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AGATGAAAGTCTACAGCTGGT	0.358																																						uc004eml.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1162-1164)CTA>GTA		ring finger protein 128 isoform 1							146.0	144.0	145.0					X																	106038818		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106038818C>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.1162C>G	X.37:g.106038818C>G	ENSP00000255499:p.Leu388Val					RNF128_uc004emk.2_Missense_Mutation_p.L362V	p.L388V	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			7	1412	+			388					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.1162C>G	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.585915	0.00872	.	.	ENSG00000133135	ENST00000324342;ENST00000255499	T;T	0.12672	2.86;2.66	5.71	4.85	0.62838	.	0.430537	0.21686	N	0.070642	T	0.08891	0.0220	L	0.40543	1.245	0.24552	N	0.994011	P;P	0.39782	0.688;0.655	B;B	0.30855	0.095;0.121	T	0.26815	-1.0092	10	0.27785	T	0.31	.	6.5651	0.22507	0.1778:0.7285:0.0:0.0937	.	388;362	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	V	362;388	ENSP00000316127:L362V;ENSP00000255499:L388V	ENSP00000255499:L388V	L	+	1	2	RNF128	105925474	0.919000	0.31177	0.995000	0.50966	0.719000	0.41307	1.456000	0.35201	1.145000	0.42336	0.594000	0.82650	CTA		0.358	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1		NM_024539		48	54	0	0	0	0.01441	0	48	54		
ARHGEF6	9459	broad.mit.edu	37	X	135761777	135761777	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:135761777G>A	ENST00000250617.6	-	16	2952	c.1747C>T	c.(1747-1749)Cct>Tct	p.P583S	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.P429S|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.P456S|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.P429S	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	583					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATAATTTGAGGAGGCTCCAAG	0.473																																						uc004fab.2		NaN																	0					0						c.(1747-1749)CCT>TCT		Rac/Cdc42 guanine nucleotide exchange factor 6							135.0	137.0	137.0					X																	135761777		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135761777G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1747C>T	X.37:g.135761777G>A	ENSP00000250617:p.Pro583Ser					ARHGEF6_uc011mwd.1_Missense_Mutation_p.P456S|ARHGEF6_uc011mwe.1_Missense_Mutation_p.P429S	p.P583S	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			16	2209	-	Acute lymphoblastic leukemia(192;0.000127)		583					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.1747C>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533460	0.64972	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.58060	0.37;0.55;0.55;0.36	5.56	4.7	0.59300	.	0.098800	0.64402	N	0.000001	T	0.63498	0.2516	M	0.72894	2.215	0.53005	D	0.999966	D;D	0.58268	0.982;0.982	P;P	0.58454	0.839;0.839	T	0.62353	-0.6872	10	0.36615	T	0.2	.	9.1965	0.37231	0.0786:0.1421:0.7793:0.0	.	456;583	B7Z3C7;Q15052	.;ARHG6_HUMAN	S	583;429;429;429;456	ENSP00000250617:P583S;ENSP00000359654:P429S;ENSP00000359656:P429S;ENSP00000439483:P456S	ENSP00000250617:P583S	P	-	1	0	ARHGEF6	135589443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.065000	0.76727	1.109000	0.41680	0.544000	0.68410	CCT		0.473	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2		NM_004840		7	143	0	0	0	0.004482	0	7	143		
SLC6A8	6535	broad.mit.edu	37	X	152959662	152959662	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:152959662G>T	ENST00000253122.5	+	9	1808	c.1332G>T	c.(1330-1332)gaG>gaT	p.E444D	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.E329D	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	444					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCCAAAGGGAGATCTCTGTGG	0.607																																						uc004fib.3		NaN																	0				pancreas(1)	1						c.(1330-1332)GAG>GAT		solute carrier family 6 member 8 isoform 1	Creatine(DB00148)						90.0	88.0	89.0					X																	152959662		2203	4300	6503	SO:0001583	missense	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152959662G>T		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1332G>T	X.37:g.152959662G>T	ENSP00000253122:p.Glu444Asp					SLC6A8_uc004fic.3_Missense_Mutation_p.E434D|SLC6A8_uc011myx.1_Missense_Mutation_p.E329D|SLC6A8_uc010nuj.2_RNA	p.E444D	NM_005629	NP_005620	P48029	SC6A8_HUMAN			9	1610	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		444			Cytoplasmic (Potential).		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	c.1332G>T	CCDS14726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.5|20.5	4.003199|4.003199	0.74932|0.74932	.|.	.|.	ENSG00000130821|ENSG00000130821	ENST00000253122;ENST00000430077;ENST00000328897;ENST00000413787|ENST00000442457	T;T;T|.	0.77098|.	-1.07;-1.07;-1.07|.	5.35|5.35	3.57|3.57	0.40892|0.40892	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.79246|0.79246	0.4413|0.4413	M|M	0.92219|0.92219	3.285|3.285	0.58432|0.58432	D|D	0.99999|0.99999	D;D|.	0.67145|.	0.987;0.996|.	P;D|.	0.70487|.	0.819;0.969|.	T|T	0.81621|0.81621	-0.0850|-0.0850	10|5	0.72032|.	D|.	0.01|.	.|.	9.5385|9.5385	0.39237|0.39237	0.1787:0.0:0.8213:0.0|0.1787:0.0:0.8213:0.0	.|.	453;444|.	Q59EV7;P48029|.	.;SC6A8_HUMAN|.	D|I	444;329;487;87|129	ENSP00000253122:E444D;ENSP00000403041:E329D;ENSP00000400463:E87D|.	ENSP00000253122:E444D|.	E|R	+|+	3|2	2|0	SLC6A8|SLC6A8	152612856|152612856	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.847000|1.847000	0.39299|0.39299	1.041000|1.041000	0.40125|0.40125	0.529000|0.529000	0.55759|0.55759	GAG|AGA		0.607	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1				100	5	1	0	2.9551e-36	0.01441	3.37984e-36	100	5		
HCFC1	3054	broad.mit.edu	37	X	153236183	153236183	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153236183G>A	ENST00000310441.7	-	1	1075	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	TMEM187_ENST00000369982.4_5'Flank|HCFC1-AS1_ENST00000438219.1_RNA|HCFC1_ENST00000369984.4_Missense_Mutation_p.R37C|HCFC1_ENST00000354233.3_Missense_Mutation_p.R37C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	37					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R37C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACGGCGCGGTGGCCGTGG	0.682																																						uc004fjp.2		NaN																	1	Substitution - Missense(1)	p.R37C(1)	ovary(1)	ovary(2)	2						c.(109-111)CGC>TGC		host cell factor 1							45.0	43.0	43.0					X																	153236183		1990	4124	6114	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153236183G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.109C>T	X.37:g.153236183G>A	ENSP00000309555:p.Arg37Cys					TMEM187_uc004fjq.2_5'Flank	p.R37C	NM_005334	NP_005325	P51610	HCFC1_HUMAN			1	637	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		37					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.109C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088180	0.55968	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.77489	-1.1;-1.1;-1.1	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85930	0.1451	10	0.87932	D	0	.	9.4327	0.38620	0.0:0.0:0.7876:0.2124	.	37	P51610	HCFC1_HUMAN	C	37	ENSP00000309555:R37C;ENSP00000359001:R37C;ENSP00000346174:R37C	ENSP00000309555:R37C	R	-	1	0	HCFC1	152889377	1.000000	0.71417	0.999000	0.59377	0.557000	0.35523	5.094000	0.64523	1.840000	0.53500	0.436000	0.28706	CGC		0.682	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4		NM_005334		13	4	0	0	0	0.004007	0	13	4		
FLNA	2316	broad.mit.edu	37	X	153588566	153588566	+	Silent	SNP	C	C	T	rs200258756		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153588566C>T	ENST00000369850.3	-	22	3833	c.3597G>A	c.(3595-3597)tcG>tcA	p.S1199S	FLNA_ENST00000344736.4_Silent_p.S1199S|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Silent_p.S1199S|FLNA_ENST00000422373.1_Silent_p.S1199S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1199			S -> L (in MNS; does not inhibit interaction with MIS18BP1; dbSNP:rs28935473). {ECO:0000269|PubMed:12612583}.		actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCCGCCTCCGAGCAGATCT	0.677													.|||	1	0.000264901	0.0	0.0	3775	,	,		13624	0.0		0.001	False		,,,				2504	0.0					uc004fkk.2		NaN																	0				breast(6)	6						c.(3595-3597)TCG>TCA		filamin A, alpha isoform 2			,	1,3578		0,1,0,1503,571	37.0	44.0	42.0		3597,3597	-9.6	0.1	X		42	2,6536		0,1,1,2370,1795	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	0,2,1,3873,2366	TT,TC,T,CC,C		0.0306,0.0279,0.0297	,	1199/2648,1199/2640	153588566	3,10114	2075	4167	6242	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588566C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3597G>A	X.37:g.153588566C>T						FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.S1199S	p.S1199S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			22	3846	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1199			Filamin 10.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.3597G>A	CCDS48194.1																																																																																				0.677	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3				14	40	0	0	0	0.004007	0	14	40		
GAB3	139716	broad.mit.edu	37	X	153944442	153944442	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153944442C>G	ENST00000369575.3	-	2	266	c.235G>C	c.(235-237)Gaa>Caa	p.E79Q	GAB3_ENST00000424127.2_Missense_Mutation_p.E79Q|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	79	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCTGAAATTCCTTCCGAACA	0.502																																						uc004fmj.1		NaN																	0				ovary(1)	1						c.(235-237)GAA>CAA		Gab3 protein isoform 2							153.0	136.0	142.0					X																	153944442		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153944442C>G	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.235G>C	X.37:g.153944442C>G	ENSP00000358588:p.Glu79Gln					GAB3_uc004fmk.1_Missense_Mutation_p.E79Q|GAB3_uc010nve.1_Missense_Mutation_p.E79Q|GAB3_uc004fml.1_5'UTR	p.E79Q	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN			2	283	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		79			PH.		A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.235G>C	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422806	0.83559	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.73681	-0.77;-0.77;-0.77	5.04	5.04	0.67666	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.095948	0.64402	D	0.000001	D	0.82273	0.5001	L	0.52206	1.635	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.82566	-0.0393	10	0.46703	T	0.11	-10.7294	14.8115	0.70000	0.0:1.0:0.0:0.0	.	79;79;79	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	Q	79	ENSP00000358588:E79Q;ENSP00000358581:E79Q;ENSP00000399588:E79Q	ENSP00000358581:E79Q	E	-	1	0	GAB3	153597636	1.000000	0.71417	0.850000	0.33497	0.992000	0.81027	7.213000	0.77950	2.079000	0.62486	0.529000	0.55759	GAA		0.502	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2		NM_001081573		89	62	0	0	0	0.01441	0	89	62		
KDM5D	8284	broad.mit.edu	37	Y	21878276	21878276	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrY:21878276C>G	ENST00000317961.4	-	15	2191	c.1920G>C	c.(1918-1920)aaG>aaC	p.K640N	KDM5D_ENST00000382806.2_Missense_Mutation_p.K583N|KDM5D_ENST00000541639.1_Missense_Mutation_p.K671N	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	640					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	AGGCAGCCATCTTGCAGATGA	0.552																																						uc004fug.2		NaN																	0				skin(1)	1						c.(1918-1920)AAG>AAC		jumonji, AT rich interactive domain 1D isoform	Vitamin C(DB00126)						73.0	68.0	69.0					Y																	21878276		617	1974	2591	SO:0001583	missense	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21878276C>G	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.1920G>C	Y.37:g.21878276C>G	ENSP00000322408:p.Lys640Asn					KDM5D_uc011naz.1_Missense_Mutation_p.K671N|KDM5D_uc010nwy.2_Missense_Mutation_p.K583N|KDM5D_uc011nba.1_Missense_Mutation_p.K640N|KDM5D_uc004fuf.2_5'Flank	p.K640N	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN			15	2208	-			640					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	c.1920G>C	CCDS14794.1																																																																																				0.552	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1		NM_004653		48	4	0	0	0	0.01441	0	48	4		
RPL22	6146	broad.mit.edu	37	1	6257784	6257785	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:6257784_6257785insT	ENST00000234875.4	-	2	82_83	c.44_45insA	c.(43-45)aagfs	p.K15fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	15					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAACTTGCTTCTTTTTTTTGCC	0.401			T	RUNX1	"""AML, CML"""																																	uc001amd.2		NaN		Dom	yes		1	1p36.31	6146	T	ribosomal protein L22 (EAP)			L	RUNX1		AML|CML		1	Deletion - Frameshift(1)		large_intestine(1)		0						c.(43-45)AAGfs		ribosomal protein L22 proprotein																																				SO:0001589	frameshift_variant	6146				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	g.chr1:6257784_6257785insT	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.45dupA	1.37:g.6257792_6257792dupT	ENSP00000346088:p.Lys15fs					RPL22_uc001ame.2_Frame_Shift_Ins_p.K15fs	p.K15fs	NM_000983	NP_000974	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	2	90_91	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	15					B2R495|Q6IBD1	Frame_Shift_Ins	INS	ENST00000234875.4	37	c.44_45insA	CCDS58.1																																																																																				0.401	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1		NM_000983		38	20	NaN	NaN	NaN	NaN	NaN	38	20	---	---
FREM2	341640	broad.mit.edu	37	13	39261881	39261881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:39261881delG	ENST00000280481.7	+	1	616	c.400delG	c.(400-402)ggcfs	p.G134fs		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	134					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTTGGCCCTGGCGAGGTGCG	0.716																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(400-402)GGCfs		FRAS1-related extracellular matrix protein 2							23.0	23.0	23.0					13																	39261881		2201	4297	6498	SO:0001589	frameshift_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39261881delG	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.400delG	13.37:g.39261881delG	ENSP00000280481:p.Gly134fs						p.G134fs	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	709	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	134			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Frame_Shift_Del	DEL	ENST00000280481.7	37	c.400delG	CCDS31960.1																																																																																				0.716	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		9	17	NaN	NaN	NaN	NaN	NaN	9	17	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547																																						uc002hvi.2		NaN																	0					0						c.(70-72)GGAdel		keratin 10			,,,	689,7,3556		198,0,293,0,7,1628					,,,	3.0	0.1		dbSNP_134	51	1494,8,6750		368,0,758,0,8,2992	no	intron,intron,intron,codingComplex	KRT10,TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1,NM_000421.3	,,,	566,0,1051,0,15,4620	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2016,16.3688,17.5784	,,,	,,,		2183,15,10306				SO:0001651	inframe_deletion	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978766_38978768delTCC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.70_72delGGA	17.37:g.38978775_38978777delTCC	ENSP00000269576:p.Gly24del					KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	p.G24del	NM_000421	NP_000412	P13645	K1C10_HUMAN			1	96_98	-		Breast(137;0.000301)	24	Missing (in Ref. 1; AAA60544).		Head.|Gly-rich.		Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	c.70_72delGGA	CCDS11377.1																																																																																				0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1		NM_000421		7	91	NaN	NaN	NaN	NaN	NaN	7	91	---	---
LRFN2	57497	broad.mit.edu	37	6	40400554	40400557	+	Frame_Shift_Del	DEL	TCGA	TCGA	-	rs187891955		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:40400554_40400557delTCGA	ENST00000338305.6	-	2	838_841	c.296_299delTCGA	c.(295-300)ctcgagfs	p.LE99fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	99						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L99L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCGGAGGCTCTCGAGGTCCAGAAA	0.603																																						uc003oph.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(295-300)CTCGAGfs		leucine rich repeat and fibronectin type III																																				SO:0001589	frameshift_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400554_40400557delTCGA	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.296_299delTCGA	6.37:g.40400554_40400557delTCGA	ENSP00000345985:p.Leu99fs						p.L99fs	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	761_764	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		99_100			Extracellular (Potential).		A5PKU3|Q5SYP9	Frame_Shift_Del	DEL	ENST00000338305.6	37	c.296_299delTCGA	CCDS34443.1																																																																																				0.603	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1		XM_166372		14	37	NaN	NaN	NaN	NaN	NaN	14	37	---	---
PRIM2	5558	broad.mit.edu	37	6	57512916	57512917	+	3'UTR	INS	-	-	T	rs140176282|rs200683929|rs560402019	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:57512916_57512917insT	ENST00000389488.2	+	0	1831_1832				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ttttttttcaattttttttgta	0.53																																						uc003pdx.2		NaN																	0					0						c.e16+1		DNA primase polypeptide 2																																				SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512916_57512917insT		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1829->T	6.37:g.57512924_57512924dupT								NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	16	1839	+								Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	INS	ENST00000389488.2	37	c.1752_splice																																																																																					0.530	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3		NM_000947		4	7	NaN	NaN	NaN	NaN	NaN	4	7	---	---
FAM126A	84668	broad.mit.edu	37	7	23004031	23004040	+	Splice_Site	DEL	TACAAGGCAA	TACAAGGCAA	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:23004031_23004040delTACAAGGCAA	ENST00000432176.2	-	8	969_976	c.737_744delTTGCCTTGTA	c.(736-744)tttgccttg>t	p.FAL246fs	FAM126A_ENST00000409923.1_Splice_Site_p.FAL246fs	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	246					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ATGAGATACTTACAAGGCAAAATAAATCCC	0.3																																						uc003svm.3		NaN																	0				central_nervous_system(1)	1						c.e8+1		family with sequence similarity 126, member A																																				SO:0001630	splice_region_variant	84668					cytoplasm|membrane	signal transducer activity	g.chr7:23004031_23004040delTACAAGGCAA	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.743+1TTGCCTTGTA>-	7.37:g.23004031_23004040delTACAAGGCAA						FAM126A_uc003svn.3_Splice_Site_p.F104_splice	p.F248_splice	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			8	998	-								A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Splice_Site	DEL	ENST00000432176.2	37	c.743_splice	CCDS5377.1																																																																																				0.300	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1		NM_032581	Frame_Shift_Del	32	34	NaN	NaN	NaN	NaN	NaN	32	34	---	---
GAL3ST4	79690	broad.mit.edu	37	7	99758558	99758560	+	In_Frame_Del	DEL	TGT	TGT	-	rs200266180		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:99758558_99758560delTGT	ENST00000360039.4	-	4	844_846	c.452_454delACA	c.(451-456)gacagc>ggc	p.151_152DS>G	C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000426974.2_In_Frame_Del_p.89_90DS>G|GAL3ST4_ENST00000423751.1_In_Frame_Del_p.T50del|GAL3ST4_ENST00000413800.1_In_Frame_Del_p.151_152DS>G|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000411994.1_In_Frame_Del_p.T50del	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	151					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAAAGAAGCTGTCAGAAGGCAT	0.512																																						uc003utt.2		NaN																	0				ovary(3)	3						c.(451-456)GACAGC>GGC		galactose-3-O-sulfotransferase 4																																				SO:0001651	inframe_deletion	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758558_99758560delTGT	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.452_454delACA	7.37:g.99758558_99758560delTGT	ENSP00000353142:p.Asp151_Ser152delinsGly					C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_In_Frame_Del_p.151_152DS>G|GAL3ST4_uc010lgq.2_In_Frame_Del_p.89_90DS>G	p.151_152DS>G	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			3	1469_1471	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		151_152			Lumenal (Potential).		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	In_Frame_Del	DEL	ENST00000360039.4	37	c.452_454delACA	CCDS5688.1																																																																																				0.512	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2		NM_024637		37	64	NaN	NaN	NaN	NaN	NaN	37	64	---	---
