#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
PTCHD2	57540	broad.mit.edu	37	1	11561631	11561631	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:11561631G>T	ENST00000294484.6	+	2	720	c.582G>T	c.(580-582)aaG>aaT	p.K194N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.K194N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	194					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.K411N(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGGCTCAAAAGCCCACAGCCA	0.697																																						uc001ash.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(580-582)AAG>AAT		patched domain containing 2							12.0	16.0	14.0					1																	11561631		1928	4138	6066	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561631G>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.582G>T	1.37:g.11561631G>T	ENSP00000294484:p.Lys194Asn					PTCHD2_uc001asi.1_Missense_Mutation_p.K194N	p.K194N	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	720	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	194			Extracellular (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.582G>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	1.552	-0.539061	0.04053	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.23147	1.92;1.92	5.41	0.151	0.14888	.	.	.	.	.	T	0.12433	0.0302	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	9	0.22109	T	0.4	-0.0548	6.2831	0.21019	0.2239:0.3739:0.4022:0.0	.	194	Q9P2K9	PTHD2_HUMAN	N	194	ENSP00000294484:K194N;ENSP00000374226:K194N	ENSP00000294484:K194N	K	+	3	2	PTCHD2	11484218	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.696000	0.25541	-0.224000	0.09928	-0.304000	0.09214	AAG		0.697	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2		XM_052561		8	12	1	0	0.00448238	0.047766	0.00450083	8	12		
ATP13A2	23400	broad.mit.edu	37	1	17330838	17330838	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:17330838G>A	ENST00000326735.8	-	6	579	c.546C>T	c.(544-546)ttC>ttT	p.F182F	ATP13A2_ENST00000452699.1_Silent_p.F177F|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.F177F			Q9NQ11	AT132_HUMAN	ATPase type 13A2	182			F -> L (in KRS). {ECO:0000269|PubMed:18413573}.		cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.F182F(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGACCTGGTAGAAGGCTTGCT	0.607																																						uc001baa.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)|central_nervous_system(1)	4	GRCh37	CM081164	ATP13A2	M		c.(544-546)TTC>TTT		ATPase type 13A2 isoform 1							68.0	55.0	59.0					1																	17330838		2203	4300	6503	SO:0001819	synonymous_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17330838G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.546C>T	1.37:g.17330838G>A						ATP13A2_uc001bab.2_Silent_p.F177F|ATP13A2_uc001bac.2_Silent_p.F177F	p.F182F	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	6	736	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	182			Cytoplasmic (Potential).		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	c.546C>T	CCDS175.1																																																																																				0.607	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1		NM_022089		7	31	0	0	0	0.047766	0	7	31		
THEMIS2	9473	broad.mit.edu	37	1	28212380	28212380	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:28212380G>A	ENST00000373921.3	+	6	1883	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.D498N|THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000373925.1_3'UTR	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	627	Asp/Glu-rich.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D627N(1)									TTTTGCAGATGATGATGAACA	0.463																																						uc001bpc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1879-1881)GAT>AAT		basement membrane-induced gene isoform 3							88.0	89.0	88.0					1																	28212380		1961	4149	6110	SO:0001583	missense	9473				cell adhesion|inflammatory response			g.chr1:28212380G>A	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1879G>A	1.37:g.28212380G>A	ENSP00000363031:p.Asp627Asn					C1orf38_uc001boz.2_3'UTR|C1orf38_uc001bpa.2_3'UTR|C1orf38_uc010ofn.1_Missense_Mutation_p.D431N|C1orf38_uc010ofo.1_Missense_Mutation_p.D498N	p.D627N	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	6	1907	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	627			Asp/Glu-rich.		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.1879G>A	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.77|13.77	2.337266|2.337266	0.41398|0.41398	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000328928;ENST00000373921|ENST00000456990	T;T|.	0.25579|.	1.79;1.83|.	3.48|3.48	-5.88|-5.88	0.02290|0.02290	.|.	1.957120|.	0.03180|.	N|.	0.171914|.	T|T	0.16085|0.16085	0.0387|0.0387	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B;B|.	0.24823|.	0.112;0.004;0.002|.	B;B;B|.	0.25506|.	0.061;0.003;0.001|.	T|T	0.28396|0.28396	-1.0045|-1.0045	10|5	0.62326|.	D|.	0.03|.	0.4689|0.4689	7.2866|7.2866	0.26342|0.26342	0.5327:0.1168:0.3504:0.0|0.5327:0.1168:0.3504:0.0	.|.	498;431;627|.	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8|.	.;.;THMS2_HUMAN|.	N|I	498;627|374	ENSP00000329862:D498N;ENSP00000363031:D627N|.	ENSP00000329862:D498N|.	D|M	+|+	1|3	0|0	C1orf38|C1orf38	28084967|28084967	0.064000|0.064000	0.20934|0.20934	0.000000|0.000000	0.03702|0.03702	0.547000|0.547000	0.35210|0.35210	-0.277000|-0.277000	0.08502|0.08502	-1.547000|-1.547000	0.01715|0.01715	0.555000|0.555000	0.69702|0.69702	GAT|ATG		0.463	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1		NM_004848		21	62	0	0	0	0.069288	0	21	62		
TINAGL1	64129	broad.mit.edu	37	1	32043028	32043028	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:32043028C>T	ENST00000271064.7	+	2	355	c.279C>T	c.(277-279)ctC>ctT	p.L93L	RP11-73M7.1_ENST00000435872.1_RNA|TINAGL1_ENST00000537531.1_Silent_p.L93L|TINAGL1_ENST00000457433.2_Silent_p.L93L|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000441210.2_Silent_p.L93L	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	93	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.L93L(1)		breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACTTCTGCCTCGGCGTGCCAC	0.607																																						uc001bta.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(277-279)CTC>CTT		tubulointerstitial nephritis antigen-like 1							98.0	84.0	89.0					1																	32043028		2203	4300	6503	SO:0001819	synonymous_variant	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32043028C>T	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.279C>T	1.37:g.32043028C>T						TINAGL1_uc001bsz.2_Intron|TINAGL1_uc010ogi.1_Silent_p.L93L|TINAGL1_uc010ogj.1_Silent_p.L93L|TINAGL1_uc010ogk.1_Silent_p.L93L	p.L93L	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	2	405	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	93			SMB.		A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Silent	SNP	ENST00000271064.7	37	c.279C>T	CCDS343.1																																																																																				0.607	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1		NM_022164		60	162	0	0	0	0.048971	0	60	162		
SPOCD1	90853	broad.mit.edu	37	1	32264127	32264127	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:32264127G>T	ENST00000360482.2	-	8	2073	c.1944C>A	c.(1942-1944)ctC>ctA	p.L648L	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.L141L|SPOCD1_ENST00000533231.1_Silent_p.L648L	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	648	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.L648L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCAGGTCCCAGAGGGCTGCCT	0.642																																						uc001bts.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|breast(1)	6						c.(1942-1944)CTC>CTA		SPOC domain containing 1							72.0	54.0	60.0					1																	32264127		2203	4300	6503	SO:0001819	synonymous_variant	90853				transcription, DNA-dependent			g.chr1:32264127G>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1944C>A	1.37:g.32264127G>T						SPOCD1_uc001btt.2_Translation_Start_Site|SPOCD1_uc001btu.2_Silent_p.L648L|SPOCD1_uc001btv.2_Silent_p.L141L|SPOCD1_uc001btw.1_Translation_Start_Site	p.L648L	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	8	2002	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	648			TFIIS central.		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	c.1944C>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	8.063	0.768589	0.15983	.	.	ENSG00000134668	ENST00000528579	.	.	.	4.95	0.346	0.16017	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37033	-0.9723	4	.	.	.	-24.8369	4.8146	0.13360	0.1978:0.3309:0.4713:0.0	.	.	.	.	Y	64	.	.	S	-	2	0	SPOCD1	32036714	1.000000	0.71417	0.753000	0.31225	0.659000	0.38960	0.644000	0.24766	0.167000	0.19631	0.555000	0.69702	TCT		0.642	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1		NM_144569		14	58	1	0	6.53275e-17	0.020292	7.02199e-17	14	58		
VCAM1	7412	broad.mit.edu	37	1	101194673	101194673	+	Silent	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:101194673T>C	ENST00000294728.2	+	5	1040	c.939T>C	c.(937-939)ttT>ttC	p.F313F	VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Silent_p.F251F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	313	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.F313F(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGAAACCATTTACTGTTGAGA	0.413																																						uc001dti.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(937-939)TTT>TTC		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						98.0	105.0	102.0					1																	101194673		2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101194673T>C	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.939T>C	1.37:g.101194673T>C						VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Silent_p.F251F	p.F313F	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1059	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	313			Ig-like C2-type 4.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.939T>C	CCDS773.1																																																																																				0.413	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1		NM_001078		13	31	0	0	0	0.020292	0	13	31		
CELSR2	1952	broad.mit.edu	37	1	109806818	109806818	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:109806818G>A	ENST00000271332.3	+	10	5181	c.5120G>A	c.(5119-5121)gGa>gAa	p.G1707E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1707	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G1707E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTGGCACTGGGAGCCAGCGGG	0.667											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|lung(3)|skin(1)	8						c.(5119-5121)GGA>GAA		cadherin EGF LAG seven-pass G-type receptor 2							32.0	45.0	41.0					1																	109806818		2202	4299	6501	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109806818G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5120G>A	1.37:g.109806818G>A	ENSP00000271332:p.Gly1707Glu		OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1422		p.G1707E	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	10	5181	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1707			Extracellular (Potential).|Laminin G-like 2.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.5120G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	4.124	0.021333	0.08006	.	.	ENSG00000143126	ENST00000271332	T	0.76186	-1.0	4.96	4.96	0.65561	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.39091	0.1065	N	0.22421	0.69	0.41529	D	0.988445	B	0.28933	0.228	B	0.30251	0.113	T	0.31833	-0.9929	9	0.07325	T	0.83	.	9.799	0.40753	0.1284:0.0:0.8716:0.0	.	1707	Q9HCU4	CELR2_HUMAN	E	1707	ENSP00000271332:G1707E	ENSP00000271332:G1707E	G	+	2	0	CELSR2	109608341	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.068000	0.64364	2.584000	0.87258	0.561000	0.74099	GGA		0.667	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408		28	94	0	0	0	0.054565	0	28	94		
CELSR2	1952	broad.mit.edu	37	1	109806952	109806952	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:109806952G>A	ENST00000271332.3	+	10	5315	c.5254G>A	c.(5254-5256)Ggc>Agc	p.G1752S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1752	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G1752S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGGCCAGCCGGCGGTGTGGC	0.667											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|lung(3)|skin(1)	8						c.(5254-5256)GGC>AGC		cadherin EGF LAG seven-pass G-type receptor 2							57.0	67.0	63.0					1																	109806952		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109806952G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5254G>A	1.37:g.109806952G>A	ENSP00000271332:p.Gly1752Ser		OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1422		p.G1752S	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	10	5315	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1752			Extracellular (Potential).|Laminin G-like 2.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.5254G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	0.425	-0.906106	0.02453	.	.	ENSG00000143126	ENST00000271332	T	0.77098	-1.07	5.14	-7.57	0.01318	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.38506	0.1043	N	0.21097	0.63	0.09310	N	1	B	0.18968	0.032	B	0.17098	0.017	T	0.51236	-0.8731	9	0.06365	T	0.9	.	20.0511	0.97627	0.1765:0.0:0.8235:0.0	.	1752	Q9HCU4	CELR2_HUMAN	S	1752	ENSP00000271332:G1752S	ENSP00000271332:G1752S	G	+	1	0	CELSR2	109608475	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.467000	0.06664	-1.326000	0.02266	-1.069000	0.02264	GGC		0.667	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408		36	111	0	0	0	0.036044	0	36	111		
POLR3C	10623	broad.mit.edu	37	1	145608196	145608196	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:145608196C>T	ENST00000334163.3	-	4	661	c.501G>A	c.(499-501)gaG>gaA	p.E167E	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Silent_p.E167E|RNF115_ENST00000369291.5_5'Flank	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	167					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.E167E(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GGTCTGAATTCTCAGTGGTAG	0.478																																						uc001eoh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(499-501)GAG>GAA		polymerase (RNA) III (DNA directed) polypeptide							197.0	183.0	188.0					1																	145608196		2203	4300	6503	SO:0001819	synonymous_variant	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145608196C>T	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.501G>A	1.37:g.145608196C>T						NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Silent_p.E180E|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Silent_p.E167E	p.E167E	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		4	662	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		167					O15317|Q9Y3R6	Silent	SNP	ENST00000334163.3	37	c.501G>A	CCDS921.1																																																																																				0.478	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1		NM_006468		30	187	0	0	0	0.041601	0	30	187		
HRNR	388697	broad.mit.edu	37	1	152193724	152193724	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:152193724A>T	ENST00000368801.2	-	3	456	c.381T>A	c.(379-381)ttT>ttA	p.F127L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	127					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.F127L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGAATGACTAAAAGAGGATT	0.438																																						uc001ezt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(379-381)TTT>TTA		hornerin							233.0	186.0	202.0					1																	152193724		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193724A>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.381T>A	1.37:g.152193724A>T	ENSP00000357791:p.Phe127Leu						p.F127L	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	457	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		127			1.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.381T>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.352944	0.24512	.	.	ENSG00000197915	ENST00000368801	T	0.01474	4.85	4.72	-2.66	0.06077	.	.	.	.	.	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.11485	T	0.65	.	4.5925	0.12313	0.4476:0.0:0.4011:0.1514	.	127	Q86YZ3	HORN_HUMAN	L	127	ENSP00000357791:F127L	ENSP00000357791:F127L	F	-	3	2	HRNR	150460348	0.588000	0.26799	0.016000	0.15963	0.846000	0.48090	-0.283000	0.08433	-0.506000	0.06558	-0.199000	0.12753	TTT		0.438	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		55	297	0	0	0	0.048971	0	55	297		
DCAF6	55827	broad.mit.edu	37	1	168034939	168034939	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:168034939G>C	ENST00000312263.6	+	16	2482	c.2278G>C	c.(2278-2280)Gat>Cat	p.D760H	DCAF6_ENST00000367843.3_Missense_Mutation_p.D780H|DCAF6_ENST00000367840.3_Missense_Mutation_p.D851H|DCAF6_ENST00000432587.2_Missense_Mutation_p.D820H	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	760					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.D780H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCTGGAAGCTGATAATCATGT	0.443																																						uc001gew.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2278-2280)GAT>CAT		IQ motif and WD repeats 1 isoform b							83.0	79.0	80.0					1																	168034939		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168034939G>C	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2278G>C	1.37:g.168034939G>C	ENSP00000311949:p.Asp760His					DCAF6_uc001gev.2_Missense_Mutation_p.D780H|DCAF6_uc001gex.2_Missense_Mutation_p.D851H|DCAF6_uc010plk.1_Missense_Mutation_p.D820H|DCAF6_uc001gey.2_Missense_Mutation_p.D633H|DCAF6_uc001gez.2_Missense_Mutation_p.D65H	p.D760H	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			16	2520	+			760			WD 7.		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.2278G>C	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809097	0.90707	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39036	0.1063	M	0.64997	1.995	0.52501	D	0.999958	B;D;D;D;D	0.89917	0.347;1.0;0.987;1.0;0.993	P;D;D;D;D	0.97110	0.649;1.0;0.958;1.0;0.985	T	0.09271	-1.0682	9	0.54805	T	0.06	.	19.5666	0.95395	0.0:0.0:1.0:0.0	.	820;433;851;760;780	B4DNB8;Q9P0U0;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;.;DCAF6_HUMAN;.	H	780;820;760;851	ENSP00000356817:D780H;ENSP00000396238:D820H;ENSP00000311949:D760H;ENSP00000356814:D851H	ENSP00000311949:D760H	D	+	1	0	DCAF6	166301563	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.178000	0.94855	2.704000	0.92352	0.561000	0.74099	GAT		0.443	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2		NM_018442		48	36	0	0	0	0.048971	0	48	36		
CACNA1S	779	broad.mit.edu	37	1	201056980	201056980	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:201056980G>A	ENST00000362061.3	-	7	1204	c.978C>T	c.(976-978)ctC>ctT	p.L326L	CACNA1S_ENST00000367338.3_Silent_p.L326L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	326					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L326L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCACCAGGTTGAGGATGAAGA	0.502																																						uc001gvv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(976-978)CTC>CTT		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						92.0	76.0	82.0					1																	201056980		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201056980G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.978C>T	1.37:g.201056980G>A							p.L326L	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			7	1205	-			326			I.|Helical; Name=S6 of repeat I; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.978C>T	CCDS1407.1																																																																																				0.502	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069		11	81	0	0	0	0.080935	0	11	81		
C4BPA	722	broad.mit.edu	37	1	207314560	207314560	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:207314560C>T	ENST00000367070.3	+	10	1577	c.1383C>T	c.(1381-1383)gtC>gtT	p.V461V		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	461	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.V461V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACATTCTGGTCGGACAGGCGA	0.413																																						uc001hfo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1381-1383)GTC>GTT		complement component 4 binding protein, alpha							94.0	96.0	95.0					1																	207314560		2203	4300	6503	SO:0001819	synonymous_variant	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207314560C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1383C>T	1.37:g.207314560C>T							p.V461V	NM_000715	NP_000706	P04003	C4BPA_HUMAN			10	1577	+			461			Sushi 7.		Q5VVQ8	Silent	SNP	ENST00000367070.3	37	c.1383C>T	CCDS1477.1																																																																																				0.413	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3				27	112	0	0	0	0.027356	0	27	112		
MIA3	375056	broad.mit.edu	37	1	222826648	222826648	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:222826648G>C	ENST00000344922.5	+	15	4313	c.4288G>C	c.(4288-4290)Gat>Cat	p.D1430H	MIA3_ENST00000344441.6_Missense_Mutation_p.D1430H|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.D308H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1430					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D1430H(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGGTGGAAATGATTCAGATGA	0.418																																						uc001hnl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(4288-4290)GAT>CAT		melanoma inhibitory activity family, member 3							132.0	125.0	127.0					1																	222826648		1882	4110	5992	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222826648G>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4288G>C	1.37:g.222826648G>C	ENSP00000340900:p.Asp1430His					MIA3_uc009xea.1_Missense_Mutation_p.D1207H|MIA3_uc001hnm.2_Missense_Mutation_p.D308H	p.D1430H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	15	4297	+			1430			Cytoplasmic (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4288G>C	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.27|12.27	1.886285|1.886285	0.33348|0.33348	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471|ENST00000354906	T;T;T|.	0.71934|.	-0.61;-0.61;1.52|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|.	.|.	.|.	.|.	T|.	0.45034|.	0.1322|.	N|N	0.22421|0.22421	0.69|0.69	0.28331|0.28331	N|N	0.921803|0.921803	B;B;B|.	0.21225|.	0.053;0.009;0.05|.	B;B;B|.	0.24394|.	0.053;0.007;0.013|.	T|.	0.38134|.	-0.9675|.	9|.	0.15499|.	T|.	0.54|.	.|.	18.5323|18.5323	0.90997|0.90997	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1371;308;1430|.	Q5JRA6-2;Q5JRA6-4;Q5JRA6|.	.;.;MIA3_HUMAN|.	H|S	1430;1430;1371;308;308|953	ENSP00000340900:D1430H;ENSP00000340587:D1430H;ENSP00000345866:D308H|.	ENSP00000284471:D308H|.	D|X	+|+	1|2	0|2	MIA3|MIA3	220893271|220893271	0.992000|0.992000	0.36948|0.36948	0.418000|0.418000	0.26571|0.26571	0.380000|0.380000	0.30137|0.30137	3.656000|3.656000	0.54467|0.54467	2.625000|2.625000	0.88918|0.88918	0.557000|0.557000	0.71058|0.71058	GAT|TGA		0.418	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4		NM_198551		16	56	0	0	0	0.0333	0	16	56		
NID1	4811	broad.mit.edu	37	1	236208952	236208952	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:236208952G>C	ENST00000264187.6	-	3	639	c.557C>G	c.(556-558)tCt>tGt	p.S186C	NID1_ENST00000366595.3_Missense_Mutation_p.S186C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	186	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.S186C(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCTGGAATCAGAGGAGGCTAG	0.413																																						uc001hxo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|pancreas(1)	2						c.(556-558)TCT>TGT		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						60.0	54.0	56.0					1																	236208952		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236208952G>C	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.557C>G	1.37:g.236208952G>C	ENSP00000264187:p.Ser186Cys					NID1_uc009xgd.2_Missense_Mutation_p.S186C	p.S186C	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		3	659	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	186			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.557C>G	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527317	0.64860	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.72725	-0.68;-0.68	5.8	5.8	0.92144	Nidogen, extracellular domain (3);	0.376195	0.32106	N	0.006572	T	0.82051	0.4953	M	0.69823	2.125	0.31433	N	0.672853	D;D	0.76494	0.999;0.996	D;D	0.65443	0.912;0.935	D	0.83859	0.0267	10	0.66056	D	0.02	.	14.8297	0.70139	0.0:0.0:0.856:0.1439	.	186;186	P14543-2;P14543	.;NID1_HUMAN	C	186	ENSP00000264187:S186C;ENSP00000355554:S186C	ENSP00000264187:S186C	S	-	2	0	NID1	234275575	0.997000	0.39634	0.970000	0.41538	0.998000	0.95712	2.722000	0.47269	2.744000	0.94065	0.555000	0.69702	TCT		0.413	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2		NM_002508		17	65	0	0	0	0.028581	0	17	65		
MTPAP	55149	broad.mit.edu	37	10	30602779	30602779	+	Missense_Mutation	SNP	C	C	T	rs570052537		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:30602779C>T	ENST00000263063.4	-	9	1551	c.1508G>A	c.(1507-1509)cGa>cAa	p.R503Q	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.R633Q	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	503					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.R503Q(2)|p.R633Q(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GGCACTTTCTCGGGCCAAATC	0.428																																						uc001iva.3		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|large_intestine(2)	ovary(1)	1						c.(1507-1509)CGA>CAA		PAP associated domain containing 1 precursor							98.0	96.0	97.0					10																	30602779		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30602779C>T	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1508G>A	10.37:g.30602779C>T	ENSP00000263063:p.Arg503Gln					MTPAP_uc001ivb.3_Missense_Mutation_p.R633Q	p.R503Q	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			9	1571	-			503					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1508G>A	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261366	0.39995	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.56941	0.43;0.43	5.76	3.92	0.45320	.	0.155507	0.56097	N	0.000028	T	0.40886	0.1135	L	0.31371	0.925	0.32584	N	0.528042	B;B	0.30179	0.271;0.007	B;B	0.20384	0.029;0.015	T	0.44375	-0.9332	10	0.35671	T	0.21	-20.4055	17.3515	0.87326	0.0:0.933:0.0:0.067	.	633;503	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	Q	633;503	ENSP00000350820:R633Q;ENSP00000263063:R503Q	ENSP00000263063:R503Q	R	-	2	0	MTPAP	30642785	1.000000	0.71417	0.999000	0.59377	0.585000	0.36419	2.941000	0.49011	0.789000	0.33779	-0.940000	0.02684	CGA		0.428	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2		NM_018109		57	141	0	0	0	0.048971	0	57	141		
DUPD1	338599	broad.mit.edu	37	10	76797697	76797697	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:76797697C>T	ENST00000338487.5	-	3	559	c.560G>A	c.(559-561)cGg>cAg	p.R187Q		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	187	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R187Q(1)		breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CAAAAAGCCCCGGTTCGGGAG	0.642																																						uc001jwq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(559-561)CGG>CAG		dual specificity phosphatase and pro isomerase							53.0	52.0	52.0					10																	76797697		2203	4300	6503	SO:0001583	missense	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76797697C>T		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.560G>A	10.37:g.76797697C>T	ENSP00000340609:p.Arg187Gln						p.R187Q	NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN			3	560	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		187			Tyrosine-protein phosphatase.		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	c.560G>A	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775306	0.70107	.	.	ENSG00000188716	ENST00000338487	D	0.85411	-1.98	4.75	4.75	0.60458	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.381500	0.28630	N	0.014669	T	0.79639	0.4480	L	0.33293	1	0.41937	D	0.990593	D	0.56287	0.975	B	0.42163	0.378	T	0.79612	-0.1731	10	0.30078	T	0.28	-20.5039	17.9814	0.89143	0.0:1.0:0.0:0.0	.	187	Q68J44	DUPD1_HUMAN	Q	187	ENSP00000340609:R187Q	ENSP00000340609:R187Q	R	-	2	0	DUPD1	76467703	0.996000	0.38824	1.000000	0.80357	0.922000	0.55478	3.530000	0.53539	2.501000	0.84356	0.485000	0.47835	CGG		0.642	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2		XM_291741		32	87	0	0	0	0.045705	0	32	87		
MINPP1	9562	broad.mit.edu	37	10	89268152	89268152	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:89268152G>C	ENST00000371996.4	+	2	738	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	MINPP1_ENST00000536010.1_Missense_Mutation_p.E32Q|MINPP1_ENST00000371994.4_Missense_Mutation_p.E233Q	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	233					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)	p.E233Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TGATCACTGTGAGAAGTTTTT	0.313																																						uc001keu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	urinary_tract(1)	1						c.(697-699)GAG>CAG		multiple inositol polyphosphate histidine							40.0	44.0	43.0					10																	89268152		2203	4297	6500	SO:0001583	missense	9562				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89268152G>C	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.697G>C	10.37:g.89268152G>C	ENSP00000361064:p.Glu233Gln					MINPP1_uc009xtf.1_RNA|MINPP1_uc001kev.2_Missense_Mutation_p.E233Q	p.E233Q	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	2	1147	+		Colorectal(252;0.122)	233					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	c.697G>C	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	g	7.788	0.710998	0.15239	.	.	ENSG00000107789	ENST00000371996;ENST00000371994;ENST00000546140;ENST00000536010	T;T;T	0.76448	-1.02;-1.02;-1.02	5.95	2.0	0.26442	.	1.110750	0.06407	N	0.719830	T	0.68403	0.2997	L	0.35723	1.085	0.24342	N	0.994951	B;B	0.24132	0.098;0.008	B;B	0.29785	0.107;0.021	T	0.52487	-0.8569	10	0.26408	T	0.33	-4.986	5.2731	0.15636	0.3141:0.1352:0.5507:0.0	.	233;233	Q9UNW1-2;Q9UNW1	.;MINP1_HUMAN	Q	233;233;92;32	ENSP00000361064:E233Q;ENSP00000361062:E233Q;ENSP00000437823:E32Q	ENSP00000361062:E233Q	E	+	1	0	MINPP1	89258132	1.000000	0.71417	0.998000	0.56505	0.085000	0.17905	1.161000	0.31773	0.107000	0.17824	-0.745000	0.03516	GAG		0.313	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1				23	38	0	0	0	0.076483	0	23	38		
EIF3A	8661	broad.mit.edu	37	10	120801973	120801973	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:120801973C>T	ENST00000369144.3	-	19	3186	c.3059G>A	c.(3058-3060)cGa>cAa	p.R1020Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R986Q	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R1020Q(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCCAGTCCTCGTCTAGGTGG	0.587																																						uc001ldu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3058-3060)CGA>CAA		eukaryotic translation initiation factor 3,							316.0	233.0	261.0					10																	120801973		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801973C>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3059G>A	10.37:g.120801973C>T	ENSP00000358140:p.Arg1020Gln					EIF3A_uc010qsu.1_Missense_Mutation_p.R986Q|EIF3A_uc009xzg.1_Missense_Mutation_p.R59Q	p.R1020Q	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3205	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1020			Asp-rich.|10.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3059G>A	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449260	0.96205	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.25912	1.77;1.79	6.17	6.17	0.99709	.	0.000000	0.34603	N	0.003835	T	0.56659	0.2000	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;0.985	D;B	0.67900	0.954;0.265	T	0.52845	-0.8521	10	0.45353	T	0.12	-12.1253	20.8794	0.99867	0.0:1.0:0.0:0.0	.	986;1020	F5H335;Q14152	.;EIF3A_HUMAN	Q	1020;986	ENSP00000358140:R1020Q;ENSP00000438178:R986Q	ENSP00000358140:R1020Q	R	-	2	0	EIF3A	120791963	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.231000	0.65327	2.941000	0.99782	0.655000	0.94253	CGA		0.587	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1		NM_003750		87	212	0	0	0	0.048971	0	87	212		
IRF7	3665	broad.mit.edu	37	11	612784	612784	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:612784C>A	ENST00000397574.2	-	11	1742	c.1373G>T	c.(1372-1374)tGc>tTc	p.C458F	IRF7_ENST00000525445.1_Missense_Mutation_p.C352F|IRF7_ENST00000397562.3_Missense_Mutation_p.C165F|IRF7_ENST00000330243.5_Missense_Mutation_p.C471F|IRF7_ENST00000348655.6_Missense_Mutation_p.C429F|IRF7_ENST00000397570.1_Missense_Mutation_p.C429F|IRF7_ENST00000397566.1_Missense_Mutation_p.C471F	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	458					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.C471F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGCACTCGGCACAGCCAGGG	0.672																																						uc001lqh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1372-1374)TGC>TTC		interferon regulatory factor 7 isoform a							47.0	49.0	48.0					11																	612784		2203	4300	6503	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:612784C>A	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.1373G>T	11.37:g.612784C>A	ENSP00000380704:p.Cys458Phe					IRF7_uc009ycb.2_Missense_Mutation_p.C352F|IRF7_uc010qwf.1_Missense_Mutation_p.C457F|IRF7_uc001lqf.2_Missense_Mutation_p.C165F|IRF7_uc010qwg.1_Missense_Mutation_p.C165F|IRF7_uc001lqg.2_Missense_Mutation_p.C471F|IRF7_uc001lqi.2_Missense_Mutation_p.C429F|IRF7_uc010qwh.1_Missense_Mutation_p.C165F	p.C458F	NM_001572	NP_001563	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1743	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	458					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.1373G>T	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287654	0.40494	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000397562;ENST00000330243	D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	4.23	3.23	0.37069	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.127671	0.53938	D	0.000044	D	0.95427	0.8515	M	0.71581	2.175	0.50039	D	0.999848	D;P;D;D	0.89917	1.0;0.855;1.0;1.0	D;P;D;D	0.91635	0.998;0.79;0.999;0.999	D	0.94934	0.8085	10	0.66056	D	0.02	-34.198	10.1441	0.42753	0.1992:0.8008:0.0:0.0	.	352;429;458;471	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	F	352;429;429;471;458;165;471	ENSP00000434009:C352F;ENSP00000331803:C429F;ENSP00000380700:C429F;ENSP00000380697:C471F;ENSP00000380704:C458F;ENSP00000380693:C165F;ENSP00000329411:C471F	ENSP00000329411:C471F	C	-	2	0	IRF7	602784	1.000000	0.71417	0.953000	0.39169	0.145000	0.21501	2.177000	0.42509	2.088000	0.63022	0.462000	0.41574	TGC		0.672	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1		NM_001572		22	52	1	0	3.6726e-16	0.0918	3.93033e-16	22	52		
KIF18A	81930	broad.mit.edu	37	11	28090880	28090880	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:28090880C>G	ENST00000263181.6	-	11	1806	c.1516G>C	c.(1516-1518)Gat>Cat	p.D506H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	506					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.D506H(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTATTCTCATCAAATTGCTTC	0.413																																						uc001msc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1516-1518)GAT>CAT		kinesin family member 18A							124.0	111.0	116.0					11																	28090880		2202	4299	6501	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28090880C>G	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1516G>C	11.37:g.28090880C>G	ENSP00000263181:p.Asp506His						p.D506H	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			11	1698	-			506					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1516G>C	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	8.449	0.852667	0.17106	.	.	ENSG00000121621	ENST00000263181	T	0.73152	-0.72	5.49	2.4	0.29515	.	0.304109	0.35124	N	0.003425	T	0.52025	0.1709	N	0.16478	0.41	0.30868	N	0.732733	B	0.06786	0.001	B	0.04013	0.001	T	0.53725	-0.8398	10	0.51188	T	0.08	.	10.2978	0.43635	0.0:0.7362:0.1223:0.1415	.	506	Q8NI77	KI18A_HUMAN	H	506	ENSP00000263181:D506H	ENSP00000263181:D506H	D	-	1	0	KIF18A	28047456	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	1.166000	0.31834	0.707000	0.31934	-0.137000	0.14449	GAT		0.413	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3		NM_031217		24	58	0	0	0	0.083992	0	24	58		
FJX1	24147	broad.mit.edu	37	11	35640755	35640755	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:35640755G>A	ENST00000317811.4	+	1	1021	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	191					retina layer formation (GO:0010842)	extracellular space (GO:0005615)		p.E191K(2)		lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GATTCAGGGCGAGGCCCTGTC	0.731																																					Melanoma(161;10 2587 27165 47356)	uc001mwh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(571-573)GAG>AAG		four jointed box 1 precursor							7.0	9.0	9.0					11																	35640755		1714	3700	5414	SO:0001583	missense	24147					extracellular space		g.chr11:35640755G>A	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.571G>A	11.37:g.35640755G>A	ENSP00000400223:p.Glu191Lys						p.E191K	NM_014344	NP_055159	Q86VR8	FJX1_HUMAN			1	1021	+	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)	191					B2RCA9|Q9UGK6	Missense_Mutation	SNP	ENST00000317811.4	37	c.571G>A	CCDS44570.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068811	0.93950	.	.	ENSG00000179431	ENST00000317811	T	0.51574	0.7	4.23	4.23	0.50019	.	.	.	.	.	T	0.67363	0.2885	M	0.75085	2.285	0.49582	D	0.999803	D	0.89917	1.0	D	0.78314	0.991	T	0.72773	-0.4192	9	0.87932	D	0	-8.0281	14.1062	0.65091	0.0:0.0:1.0:0.0	.	191	Q86VR8	FJX1_HUMAN	K	191	ENSP00000400223:E191K	ENSP00000400223:E191K	E	+	1	0	FJX1	35597331	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.529000	0.90602	1.893000	0.54813	0.462000	0.41574	GAG		0.731	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1		NM_014344		3	5	0	0	0	0.009096	0	3	5		
API5	8539	broad.mit.edu	37	11	43356859	43356859	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:43356859G>A	ENST00000531273.1	+	12	1449	c.1310G>A	c.(1309-1311)aGc>aAc	p.S437N	API5_ENST00000420461.2_Missense_Mutation_p.S383N|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000378852.3_Missense_Mutation_p.S437N|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.S426N|API5_ENST00000534600.1_Missense_Mutation_p.S437N|API5_ENST00000529334.1_3'UTR			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	437					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.S437N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TCTTATAAGAGCACAGTAACA	0.383																																					Pancreas(1;98 122 5625 20895 49453)	uc010rfh.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1309-1311)AGC>AAC		apoptosis inhibitor 5 isoform a							108.0	109.0	108.0					11																	43356859		2203	4300	6503	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43356859G>A	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1310G>A	11.37:g.43356859G>A	ENSP00000431391:p.Ser437Asn					API5_uc010rfg.1_Missense_Mutation_p.S426N|API5_uc001mxf.2_Missense_Mutation_p.S437N|API5_uc010rfi.1_Missense_Mutation_p.S383N|API5_uc001mxg.2_Missense_Mutation_p.S311N	p.S437N	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN			12	1483	+			437					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.1310G>A	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720198	0.89205	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54	4.97	4.97	0.65823	Armadillo-type fold (1);	0.085001	0.85682	D	0.000000	T	0.30665	0.0772	L	0.55990	1.75	0.53688	D	0.999979	D;D;D;D;D	0.76494	0.997;0.993;0.982;0.991;0.999	D;D;P;P;D	0.65140	0.932;0.909;0.828;0.852;0.929	T	0.01621	-1.1310	10	0.21014	T	0.42	-30.2269	18.5891	0.91202	0.0:0.0:1.0:0.0	.	383;437;426;437;437	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	N	426;437;383;437;437;252	ENSP00000399341:S426N;ENSP00000431391:S437N;ENSP00000402540:S383N;ENSP00000368129:S437N;ENSP00000434462:S437N;ENSP00000436436:S252N	ENSP00000368129:S437N	S	+	2	0	API5	43313435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.449000	0.82847	0.557000	0.71058	AGC		0.383	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1		NM_006595		38	74	0	0	0	0.036044	0	38	74		
OR8K3	219473	broad.mit.edu	37	11	56086697	56086697	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:56086697T>A	ENST00000312711.1	+	1	915	c.915T>A	c.(913-915)aaT>aaA	p.N305K		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N305K(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGACATGGAATAACTTATGTA	0.328																																						uc010rjf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(913-915)AAT>AAA		olfactory receptor, family 8, subfamily K,							39.0	37.0	38.0					11																	56086697		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086697T>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.915T>A	11.37:g.56086697T>A	ENSP00000323555:p.Asn305Lys						p.N305K	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	915	+	Esophageal squamous(21;0.00448)		305			Cytoplasmic (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.915T>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	T	0.024	-1.390465	0.01185	.	.	ENSG00000181689	ENST00000312711	T	0.35048	1.33	4.12	0.135	0.14775	.	0.533387	0.17325	N	0.178354	T	0.10423	0.0255	N	0.01522	-0.82	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36383	-0.9750	10	0.05436	T	0.98	.	9.4068	0.38466	0.6105:0.0:0.0:0.3895	.	305	Q8NH51	OR8K3_HUMAN	K	305	ENSP00000323555:N305K	ENSP00000323555:N305K	N	+	3	2	OR8K3	55843273	0.001000	0.12720	0.016000	0.15963	0.001000	0.01503	-0.216000	0.09266	-0.071000	0.12886	-0.750000	0.03501	AAT		0.328	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1		NM_001005202		9	31	0	0	0	0.058154	0	9	31		
BEST1	7439	broad.mit.edu	37	11	61729849	61729849	+	Nonsense_Mutation	SNP	C	C	G	rs370293904		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:61729849C>G	ENST00000378043.4	+	10	1866	c.1223C>G	c.(1222-1224)tCa>tGa	p.S408*	BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Nonsense_Mutation_p.S36*|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000435278.2_3'UTR|BEST1_ENST00000449131.2_Nonsense_Mutation_p.S348*|BEST1_ENST00000378042.3_Nonsense_Mutation_p.S321*	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	408					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.S408*(1)|p.S348*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						AGGGCAAACTCAAGGACCAAA	0.577																																						uc001nss.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(1222-1224)TCA>TGA		bestrophin 1 isoform 1							85.0	73.0	77.0					11																	61729849		2202	4299	6501	SO:0001587	stop_gained	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61729849C>G	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1223C>G	11.37:g.61729849C>G	ENSP00000367282:p.Ser408*					BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_3'UTR|BEST1_uc010rls.1_Nonsense_Mutation_p.S36*|BEST1_uc001nsr.2_Nonsense_Mutation_p.S348*|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Nonsense_Mutation_p.S348*|BEST1_uc001nst.2_Nonsense_Mutation_p.S321*|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.1_Nonsense_Mutation_p.S302*	p.S408*	NM_004183	NP_004174	O76090	BEST1_HUMAN			10	1803	+			408			Cytoplasmic (Potential).		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Nonsense_Mutation	SNP	ENST00000378043.4	37	c.1223C>G	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	C	43	10.405566	0.99399	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	.	.	.	5.13	0.811	0.18739	.	7739.210000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-0.4233	6.7651	0.23562	0.0:0.6658:0.1328:0.2014	.	.	.	.	X	408;321;36;348	.	ENSP00000301774:S36X	S	+	2	0	BEST1	61486425	0.657000	0.27393	0.010000	0.14722	0.921000	0.55340	2.035000	0.41155	0.269000	0.21961	0.563000	0.77884	TCA		0.577	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1		NM_004183		22	62	0	0	0	0.062417	0	22	62		
METTL12	751071	broad.mit.edu	37	11	62433975	62433975	+	Missense_Mutation	SNP	G	G	A	rs375107020		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:62433975G>A	ENST00000532971.1	+	3	432	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000525675.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000354588.3_Intron|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000524958.1_5'Flank	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	59						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.E59K(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						TGGATACGACGAAGTCCAGGG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17748	0.0		0.0	False		,,,				2504	0.001					uc001nug.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(175-177)GAA>AAA		methyltransferase like 12 precursor		G	LYS/GLU,	0,4138		0,0,2069	59.0	66.0	64.0		175,	3.6	0.9	11		64	3,8403		0,3,4200	no	missense,intron	C11orf48,METTL12	NM_001043229.1,NM_024099.3	56,	0,3,6269	AA,AG,GG		0.0357,0.0,0.0239	benign,	59/241,	62433975	3,12541	2069	4203	6272	SO:0001583	missense	751071					mitochondrion	methyltransferase activity	g.chr11:62433975G>A	BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.175G>A	11.37:g.62433975G>A	ENSP00000431287:p.Glu59Lys					C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_Silent_p.T100T|METTL12_uc010rmc.1_RNA	p.E59K	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN			3	434	+			59					B7Z4C1	Missense_Mutation	SNP	ENST00000532971.1	37	c.175G>A	CCDS41657.1	.	.	.	.	.	.	.	.	.	.	G	9.856	1.194972	0.22037	0.0	3.57E-4	ENSG00000214756	ENST00000532971	T	0.43294	0.95	4.53	3.6	0.41247	.	0.482489	0.15751	U	0.246413	T	0.27419	0.0673	L	0.48174	1.505	0.22866	N	0.998633	P	0.41131	0.739	B	0.22753	0.041	T	0.08868	-1.0701	10	0.20519	T	0.43	-18.1241	11.4027	0.49878	0.0:0.3518:0.6482:0.0	.	59	A8MUP2	MTL12_HUMAN	K	59	ENSP00000431287:E59K	ENSP00000431287:E59K	E	+	1	0	METTL12	62190551	0.014000	0.17966	0.891000	0.34965	0.787000	0.44495	0.408000	0.21065	1.234000	0.43709	0.591000	0.81541	GAA		0.612	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1		NM_001043229		50	93	0	0	0	0.048971	0	50	93		
CTTN	2017	broad.mit.edu	37	11	70281229	70281229	+	Silent	SNP	C	C	T	rs545888686	byFrequency	TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:70281229C>T	ENST00000301843.8	+	18	1820	c.1614C>T	c.(1612-1614)taC>taT	p.Y538Y	CTTN_ENST00000346329.3_Silent_p.Y501Y|CTTN_ENST00000376561.3_Intron|CTTN_ENST00000538675.1_Intron	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	538	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)		p.Y538Y(1)|p.?(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGGGCCGGTACGGGCTCTTCC	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		11594	0.001		0.0	False		,,,				2504	0.001					uc001opv.3		NaN																	2	Unknown(1)|Substitution - coding silent(1)		urinary_tract(2)	ovary(1)	1						c.(1612-1614)TAC>TAT		cortactin isoform a							54.0	49.0	51.0					11																	70281229		2200	4294	6494	SO:0001819	synonymous_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70281229C>T	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1614C>T	11.37:g.70281229C>T						CTTN_uc001opu.2_Intron|CTTN_uc001opw.3_Silent_p.Y501Y|CTTN_uc010rqm.1_Intron|CTTN_uc001opx.2_Silent_p.Y222Y	p.Y538Y	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	18	1820	+			538			SH3.		Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	c.1614C>T	CCDS41680.1																																																																																				0.617	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2		NM_138565		32	58	0	0	0	0.045705	0	32	58		
HEPHL1	341208	broad.mit.edu	37	11	93778916	93778916	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:93778916C>T	ENST00000315765.9	+	2	256	c.248C>T	c.(247-249)aCg>aTg	p.T83M		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	83	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.T83M(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGACGCTTCACGGATGGAACC	0.453																																						uc001pep.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(247-249)ACG>ATG		hephaestin-like 1 precursor							73.0	69.0	70.0					11																	93778916		1854	4096	5950	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93778916C>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.248C>T	11.37:g.93778916C>T	ENSP00000313699:p.Thr83Met						p.T83M	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			2	405	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	83			Plastocyanin-like 1.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.248C>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686198	0.68157	.	.	ENSG00000181333	ENST00000315765	D	0.99186	-5.53	5.2	4.29	0.51040	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.87682	2.9	0.50813	D	0.999894	D	0.65815	0.995	P	0.58130	0.833	D	0.98988	1.0807	10	0.62326	D	0.03	.	13.9636	0.64196	0.0:0.9265:0.0:0.0735	.	83	Q6MZM0	HPHL1_HUMAN	M	83	ENSP00000313699:T83M	ENSP00000313699:T83M	T	+	2	0	HEPHL1	93418564	1.000000	0.71417	0.994000	0.49952	0.433000	0.31745	4.742000	0.62103	1.324000	0.45282	0.650000	0.86243	ACG		0.453	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2		XM_291947		11	34	0	0	0	0.069234	0	11	34		
KMT2A	4297	broad.mit.edu	37	11	118376454	118376454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:118376454C>T	ENST00000389506.5	+	27	9838	c.9838C>T	c.(9838-9840)Cga>Tga	p.R3280*	KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R3283*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R3242*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3280					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R3283*(1)|p.R3280*(1)									TTCATCTCACCGAACTGTCCC	0.433																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Nonsense(2)		urinary_tract(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(9838-9840)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia							109.0	109.0	109.0					11																	118376454		2200	4295	6495	SO:0001587	stop_gained	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118376454C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9838C>T	11.37:g.118376454C>T	ENSP00000374157:p.Arg3280*					MLL_uc001ptb.2_Nonsense_Mutation_p.R3283*	p.R3280*	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	9861	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3280					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.9838C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	50	16.745021	0.99871	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.98	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5277	0.39173	0.2425:0.6837:0.0:0.0739	.	.	.	.	X	3283;3280;3242;2190	.	ENSP00000346516:R3242X	R	+	1	2	MLL	117881664	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	2.957000	0.49137	2.847000	0.97988	0.591000	0.81541	CGA		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		49	70	0	0	0	0.048971	0	49	70		
OR10S1	219873	broad.mit.edu	37	11	123848195	123848195	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:123848195G>C	ENST00000531945.1	-	1	293	c.204C>G	c.(202-204)ctC>ctG	p.L68L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L68L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGTAAGCTGAGGTGAGAGT	0.542																																						uc001pzm.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(202-204)CTC>CTG		olfactory receptor, family 10, subfamily S,							80.0	70.0	74.0					11																	123848195		2202	4299	6501	SO:0001819	synonymous_variant	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123848195G>C	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.204C>G	11.37:g.123848195G>C							p.L68L	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	204	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	68			Helical; Name=2; (Potential).		B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	c.204C>G	CCDS31701.1																																																																																				0.542	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2		NM_001004474		7	35	0	0	0	0.02938	0	7	35		
OR8B4	283162	broad.mit.edu	37	11	124294748	124294748	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:124294748G>A	ENST00000356130.3	-	1	41	c.20C>T	c.(19-21)tCc>tTc	p.S7F		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S7F(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGTCACTGAGGAGCTGTTTCT	0.483																																						uc010sak.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(19-21)TCC>TTC		olfactory receptor, family 8, subfamily B,							40.0	37.0	38.0					11																	124294748		2200	4298	6498	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294748G>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.20C>T	11.37:g.124294748G>A	ENSP00000348449:p.Ser7Phe						p.S7F	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	20	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	7			Extracellular (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.20C>T	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.233619	0.79688	.	.	ENSG00000198657	ENST00000356130	T	0.54675	0.56	4.7	4.7	0.59300	.	0.000000	0.52532	D	0.000075	T	0.71600	0.3359	M	0.90082	3.085	0.41324	D	0.987199	P	0.45428	0.858	P	0.52710	0.707	T	0.78934	-0.2008	10	0.87932	D	0	.	15.0254	0.71667	0.0:0.0:1.0:0.0	.	7	Q96RC9	OR8B4_HUMAN	F	7	ENSP00000348449:S7F	ENSP00000348449:S7F	S	-	2	0	OR8B4	123799958	0.097000	0.21791	0.962000	0.40283	0.997000	0.91878	2.607000	0.46300	2.607000	0.88179	0.655000	0.94253	TCC		0.483	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1		NM_001005196		6	17	0	0	0	0.02938	0	6	17		
CDON	50937	broad.mit.edu	37	11	125891384	125891384	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:125891384G>C	ENST00000392693.3	-	3	235	c.108C>G	c.(106-108)ctC>ctG	p.L36L	CDON_ENST00000263577.7_Silent_p.L36L	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	36	Ig-like C2-type 1.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L36L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGACAGCAGAGAGCGGCTCAG	0.448																																						uc009zbw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(2)|breast(1)	6						c.(106-108)CTC>CTG		surface glycoprotein, Ig superfamily member							73.0	69.0	70.0					11																	125891384		2201	4299	6500	SO:0001819	synonymous_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125891384G>C	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.108C>G	11.37:g.125891384G>C						CDON_uc001qdc.3_Silent_p.L36L|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Silent_p.L36L	p.L36L	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	3	236	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	36			Extracellular (Potential).|Ig-like C2-type 1.		O14631	Silent	SNP	ENST00000392693.3	37	c.108C>G	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	7.162	0.585888	0.13749	.	.	ENSG00000064309	ENST00000534661	T	0.38722	1.12	5.66	1.7	0.24286	.	0.314443	0.21457	N	0.074240	T	0.28267	0.0698	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.04752	-1.0929	7	0.17369	T	0.5	-4.0933	3.0704	0.06229	0.2067:0.2679:0.427:0.0985	.	.	.	.	V	12	ENSP00000436755:L12V	ENSP00000436755:L12V	L	-	1	0	CDON	125396594	0.000000	0.05858	0.809000	0.32408	0.931000	0.56810	-1.081000	0.03403	0.340000	0.23745	0.563000	0.77884	CTC		0.448	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2		NM_016952		16	33	0	0	0	0.028581	0	16	33		
FOXM1	2305	broad.mit.edu	37	12	2967845	2967845	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:2967845C>T	ENST00000359843.3	-	9	2319	c.2251G>A	c.(2251-2253)Gac>Aac	p.D751N	FOXM1_ENST00000342628.2_Missense_Mutation_p.D789N|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000361953.3_Missense_Mutation_p.D736N|AC005841.1_ENST00000382678.3_5'Flank|ITFG2_ENST00000545509.1_Intron	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	751					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D789N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTGATGTTGTCAGGGCCCAGT	0.577																																						uc001qlf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(2251-2253)GAC>AAC		forkhead box M1 isoform 2							59.0	54.0	56.0					12																	2967845		2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2967845C>T	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2251G>A	12.37:g.2967845C>T	ENSP00000352901:p.Asp751Asn					uc001qld.2_Intron|FOXM1_uc001qle.2_Missense_Mutation_p.D789N|FOXM1_uc001qlg.2_Missense_Mutation_p.D736N|FOXM1_uc009zea.2_Missense_Mutation_p.D736N|FOXM1_uc009zeb.2_Missense_Mutation_p.D735N	p.D751N	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		9	2516	-			751					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.2251G>A	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060616	0.76074	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.93811	-3.29;-3.29;-3.21	4.72	4.72	0.59763	.	0.256890	0.37857	N	0.001914	D	0.95124	0.8420	M	0.62723	1.935	0.37516	D	0.917325	P;P;P;P;D	0.59357	0.745;0.745;0.835;0.745;0.985	P;P;P;P;P	0.57846	0.448;0.448;0.65;0.448;0.828	D	0.96664	0.9491	10	0.66056	D	0.02	.	16.863	0.86022	0.0:1.0:0.0:0.0	.	735;751;736;751;789	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	N	789;736;751	ENSP00000342307:D789N;ENSP00000354492:D736N;ENSP00000352901:D751N	ENSP00000342307:D789N	D	-	1	0	FOXM1	2838106	1.000000	0.71417	0.574000	0.28523	0.480000	0.33159	7.320000	0.79064	2.445000	0.82738	0.561000	0.74099	GAC		0.577	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1		NM_021953		26	62	0	0	0	0.027356	0	26	62		
DYRK4	8798	broad.mit.edu	37	12	4722727	4722727	+	Silent	SNP	G	G	A	rs143171709	byFrequency	TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:4722727G>A	ENST00000540757.2	+	13	1531	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	DYRK4_ENST00000543431.1_Silent_p.T456T|DYRK4_ENST00000545342.1_Silent_p.T94T|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000010132.5_Silent_p.T457T	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	457						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.T858T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATAGCCCCACGAAGCATGTTC	0.473													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19597	0.0		0.0	False		,,,				2504	0.0					uc001qmx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|skin(1)	3						c.(1369-1371)ACG>ACA		dual-specificity tyrosine-(Y)-phosphorylation		G		4,4402	8.1+/-20.4	0,4,2199	83.0	75.0	78.0		1371	-11.8	0.0	12	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	DYRK4	NM_003845.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		457/521	4722727	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4722727G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1371G>A	12.37:g.4722727G>A						DYRK4_uc001qmy.1_Silent_p.T456T|DYRK4_uc001qmz.1_Silent_p.T170T|DYRK4_uc001qna.1_Silent_p.T93T|DYRK4_uc010ser.1_Silent_p.T94T	p.T457T	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		13	1531	+			457					A8K8F7|Q8NEF2|Q92631	Silent	SNP	ENST00000540757.2	37	c.1371G>A	CCDS8530.1																																																																																				0.473	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2				20	66	0	0	0	0.043863	0	20	66		
ATN1	1822	broad.mit.edu	37	12	7045608	7045608	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:7045608C>G	ENST00000356654.4	+	5	1415	c.1178C>G	c.(1177-1179)tCt>tGt	p.S393C	ATN1_ENST00000396684.2_Missense_Mutation_p.S393C	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	393	Poly-Ser.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.S393C(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						tcttcctcctcttcctctgcc	0.587																																						uc001qrw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1177-1179)TCT>TGT		atrophin-1							74.0	66.0	69.0					12																	7045608		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045608C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1178C>G	12.37:g.7045608C>G	ENSP00000349076:p.Ser393Cys					ATN1_uc001qrx.1_Missense_Mutation_p.S393C|ATN1_uc001qry.1_Missense_Mutation_p.S392C	p.S393C	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			5	1415	+			393			Poly-Ser.		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1178C>G	CCDS31734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.421|7.421	0.636801|0.636801	0.14386|0.14386	.|.	.|.	ENSG00000111676|ENSG00000111676	ENST00000229279|ENST00000356654;ENST00000396684;ENST00000544325	.|T;T;T	.|0.56776	.|0.44;0.44;0.44	3.14|3.14	3.14|3.14	0.36123|0.36123	.|.	.|0.000000	.|0.33691	.|U	.|0.004659	T|T	0.45538|0.45538	0.1347|0.1347	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32425	.|0.371;0.052	.|P;B	.|0.44623	.|0.455;0.332	T|T	0.45862|0.45862	-0.9232|-0.9232	6|10	0.17369|0.72032	T|D	0.5|0.01	.|.	8.4624|8.4624	0.32936|0.32936	0.3143:0.6857:0.0:0.0|0.3143:0.6857:0.0:0.0	.|.	.|393;393	.|Q86V38;P54259	.|.;ATN1_HUMAN	V|C	22|393	.|ENSP00000349076:S393C;ENSP00000379915:S393C;ENSP00000441744:S393C	ENSP00000229279:L22V|ENSP00000349076:S393C	L|S	+|+	1|2	0|0	ATN1|ATN1	6915869|6915869	0.003000|0.003000	0.15002|0.15002	0.089000|0.089000	0.20774|0.20774	0.508000|0.508000	0.34012|0.34012	1.495000|1.495000	0.35627|0.35627	1.488000|1.488000	0.48433|0.48433	0.486000|0.486000	0.48141|0.48141	CTT|TCT		0.587	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2		NM_001940		24	65	0	0	0	0.099896	0	24	65		
KIAA1551	55196	broad.mit.edu	37	12	32138214	32138214	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:32138214G>A	ENST00000312561.4	+	4	4739	c.4325G>A	c.(4324-4326)aGa>aAa	p.R1442K	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1442								p.R1442K(1)									AAATTTAGTAGAATTCTAACT	0.358																																						uc001rks.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(4324-4326)AGA>AAA		hypothetical protein LOC55196							69.0	78.0	75.0					12																	32138214		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32138214G>A	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.4325G>A	12.37:g.32138214G>A	ENSP00000310338:p.Arg1442Lys					C12orf35_uc001rkt.2_5'Flank	p.R1442K	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	4739	+	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)		1442					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.4325G>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	2.968	-0.213016	0.06140	.	.	ENSG00000174718	ENST00000312561	T	0.10288	2.89	4.91	2.03	0.26663	.	0.346287	0.23807	N	0.044377	T	0.07234	0.0183	L	0.28740	0.885	0.09310	N	1	B	0.22541	0.071	B	0.23716	0.048	T	0.36672	-0.9738	9	.	.	.	.	7.438	0.27166	0.3574:0.0:0.6426:0.0	.	1442	Q9HCM1	CL035_HUMAN	K	1442	ENSP00000310338:R1442K	.	R	+	2	0	C12orf35	32029481	0.042000	0.20092	0.098000	0.21074	0.099000	0.18886	0.343000	0.19944	0.581000	0.29539	0.508000	0.49915	AGA		0.358	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2		NM_018169		32	99	0	0	0	0.059317	0	32	99		
TMEM117	84216	broad.mit.edu	37	12	44781901	44781901	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:44781901G>A	ENST00000266534.3	+	8	1118	c.991G>A	c.(991-993)Ggg>Agg	p.G331R	TMEM117_ENST00000536799.1_Missense_Mutation_p.G227R|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	331						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G331R(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCATGAATATGGGCAATATAT	0.368																																						uc001rod.2		NaN																	3	Substitution - Missense(3)		lung(2)|urinary_tract(1)		0						c.(991-993)GGG>AGG		transmembrane protein 117							50.0	51.0	51.0					12																	44781901		2203	4299	6502	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44781901G>A	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.991G>A	12.37:g.44781901G>A	ENSP00000266534:p.Gly331Arg					TMEM117_uc001roe.2_Missense_Mutation_p.G227R|TMEM117_uc009zkc.2_3'UTR	p.G331R	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	8	1057	+	Lung SC(27;0.192)		331						Missense_Mutation	SNP	ENST00000266534.3	37	c.991G>A	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283687	0.80803	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T;T	0.61158	0.13;0.13	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77525	-0.2555	10	0.87932	D	0	-15.2754	19.9155	0.97058	0.0:0.0:1.0:0.0	.	227;331	F5H3Q2;Q9H0C3	.;TM117_HUMAN	R	331;227;79	ENSP00000266534:G331R;ENSP00000445243:G227R	ENSP00000266534:G331R	G	+	1	0	TMEM117	43068168	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.814000	0.99346	2.699000	0.92147	0.650000	0.86243	GGG		0.368	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1		NM_032256		19	29	0	0	0	0.043863	0	19	29		
KMT2D	8085	broad.mit.edu	37	12	49424159	49424159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:49424159G>A	ENST00000301067.7	-	42	13902	c.13903C>T	c.(13903-13905)Cag>Tag	p.Q4635*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4635					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q4365*(1)|p.Q4635*(1)									ATCTTCTGCTGCACCGATGGG	0.627																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		2	Substitution - Nonsense(2)		urinary_tract(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(13903-13905)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							15.0	16.0	16.0					12																	49424159		1857	4101	5958	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49424159G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13903C>T	12.37:g.49424159G>A	ENSP00000301067:p.Gln4635*	HNSCC(34;0.089)					p.Q4635*	NM_003482	NP_003473	O14686	MLL2_HUMAN			42	13903	-			4635					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.13903C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	54	22.608290	0.99949	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.58	5.58	0.84498	.	0.000000	0.36409	N	0.002604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7345	0.91749	0.0:0.0:1.0:0.0	.	.	.	.	X	4635	.	ENSP00000301067:Q4635X	Q	-	1	0	MLL2	47710426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.164000	0.50770	2.813000	0.96785	0.655000	0.94253	CAG		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				5	12	0	0	0	0.02938	0	5	12		
CCDC60	160777	broad.mit.edu	37	12	119942996	119942996	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:119942996G>T	ENST00000327554.2	+	7	1236	c.771G>T	c.(769-771)gtG>gtT	p.V257V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	257								p.V257V(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGATCTCTGTGAACCCTGGCT	0.577																																						uc001txe.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(769-771)GTG>GTT		coiled-coil domain containing 60							141.0	144.0	143.0					12																	119942996		2203	4300	6503	SO:0001819	synonymous_variant	160777							g.chr12:119942996G>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.771G>T	12.37:g.119942996G>T						uc001txf.2_Intron	p.V257V	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	7	1236	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		257						Silent	SNP	ENST00000327554.2	37	c.771G>T	CCDS9190.1																																																																																				0.577	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1		NM_178499		86	274	1	0	2.79443e-65	0.048971	3.09928e-65	86	274		
RSRC2	65117	broad.mit.edu	37	12	122992836	122992836	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:122992836C>T	ENST00000331738.7	-	8	1109	c.964G>A	c.(964-966)Gct>Act	p.A322T	RSRC2_ENST00000354654.2_Missense_Mutation_p.A274T|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	322							poly(A) RNA binding (GO:0044822)	p.A322T(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GGATTAACAGCGGCTGGGTTA	0.448																																						uc001ucr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(964-966)GCT>ACT		arginine/serine-rich coiled-coil 2 isoform a							106.0	109.0	108.0					12																	122992836		2203	4300	6503	SO:0001583	missense	65117							g.chr12:122992836C>T	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.964G>A	12.37:g.122992836C>T	ENSP00000330188:p.Ala322Thr					RSRC2_uc001uco.2_Missense_Mutation_p.A91T|RSRC2_uc001ucp.2_Missense_Mutation_p.A263T|RSRC2_uc001ucq.2_Missense_Mutation_p.A90T|RSRC2_uc001ucs.2_Missense_Mutation_p.A91T|RSRC2_uc001uct.2_Missense_Mutation_p.A274T|RSRC2_uc001ucu.2_Missense_Mutation_p.A323T	p.A322T	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	8	1110	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		322					Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.964G>A	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519458	0.85495	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773	T;T	0.52295	0.67;0.69	5.15	5.15	0.70609	.	0.047019	0.85682	D	0.000000	T	0.58452	0.2123	L	0.47716	1.5	0.54753	D	0.999989	D;D;P;P	0.64830	0.987;0.994;0.871;0.71	P;P;P;B	0.56042	0.459;0.79;0.502;0.033	T	0.60449	-0.7261	10	0.59425	D	0.04	.	19.0014	0.92836	0.0:1.0:0.0:0.0	.	323;274;322;91	F5GXM2;Q7L4I2-2;Q7L4I2;B3KMH4	.;.;RSRC2_HUMAN;.	T	322;274;323	ENSP00000330188:A322T;ENSP00000346678:A274T	ENSP00000330188:A322T	A	-	1	0	RSRC2	121558789	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.737000	0.68606	2.546000	0.85860	0.655000	0.94253	GCT		0.448	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3		NM_023012		20	97	0	0	0	0.0918	0	20	97		
DENR	8562	broad.mit.edu	37	12	123253605	123253605	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:123253605C>A	ENST00000280557.6	+	8	763	c.577C>A	c.(577-579)Ctt>Att	p.L193I	DENR_ENST00000455982.2_Intron|Y_RNA_ENST00000384187.1_RNA	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein	193					formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)		translation initiation factor activity (GO:0003743)	p.L193I(1)		kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		CATCGAAGATCTTGGAGAAGT	0.318																																						uc001uda.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(577-579)CTT>ATT		density-regulated protein							150.0	146.0	147.0					12																	123253605		1820	4076	5896	SO:0001583	missense	8562						protein binding|translation initiation factor activity	g.chr12:123253605C>A	AF038554	CCDS45003.1	12q24.31	1999-06-17			ENSG00000139726	ENSG00000139726			2769	protein-coding gene	gene with protein product		604550				9628587	Standard	NM_003677		Approved	DRP, DRP1, SMAP-3	uc001uda.3	O43583	OTTHUMG00000168844	ENST00000280557.6:c.577C>A	12.37:g.123253605C>A	ENSP00000280557:p.Leu193Ile					DENR_uc010tag.1_Intron|DENR_uc001udb.2_Missense_Mutation_p.L147I	p.L193I	NM_003677	NP_003668	O43583	DENR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)	8	713	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		193					Q9H3U6|Q9UKZ0	Missense_Mutation	SNP	ENST00000280557.6	37	c.577C>A	CCDS45003.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040238	0.75732	.	.	ENSG00000139726	ENST00000280557	.	.	.	5.06	5.06	0.68205	Translation initiation factor SUI1 (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	L	0.28115	0.83	0.80722	D	1	P	0.52316	0.952	P	0.54100	0.742	T	0.54166	-0.8334	9	0.26408	T	0.33	-10.7291	18.7723	0.91898	0.0:1.0:0.0:0.0	.	193	O43583	DENR_HUMAN	I	193	.	ENSP00000280557:L193I	L	+	1	0	DENR	121819558	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.537000	0.53590	2.504000	0.84457	0.549000	0.68633	CTT		0.318	DENR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401336.1		NM_003677		45	133	1	0	7.34454e-26	0.048971	8.00031e-26	45	133		
FLT1	2321	broad.mit.edu	37	13	28897021	28897021	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:28897021C>T	ENST00000282397.4	-	21	3110	c.2859G>A	c.(2857-2859)aaG>aaA	p.K953K	FLT1_ENST00000543394.1_5'Flank|FLT1_ENST00000540678.1_Silent_p.K171K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	953	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.K953K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTTGGTTTCTTGCCTTGTT	0.493																																						uc001usb.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2857-2859)AAG>AAA		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						237.0	208.0	218.0					13																	28897021		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28897021C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2859G>A	13.37:g.28897021C>T						FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Silent_p.K78K|FLT1_uc001usa.3_Silent_p.K171K	p.K953K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	21	3144	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	953			Cytoplasmic (Potential).|Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.2859G>A	CCDS9330.1																																																																																				0.493	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1				66	151	0	0	0	0.048971	0	66	151		
NBEA	26960	broad.mit.edu	37	13	35619479	35619479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:35619479C>T	ENST00000400445.3	+	4	1198	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q222*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q222*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.Q222*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	222					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.Q222*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTTCTTAATCAGATGCCACA	0.323																																						uc001uvb.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(9)|large_intestine(2)	11						c.(664-666)CAG>TAG		neurobeachin							93.0	87.0	89.0					13																	35619479		1846	4098	5944	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35619479C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.664C>T	13.37:g.35619479C>T	ENSP00000383295:p.Gln222*						p.Q222*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	5	870	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	222					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.664C>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	43	10.331195	0.99384	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	19.9902	0.97362	0.0:1.0:0.0:0.0	.	.	.	.	X	222	.	ENSP00000308534:Q222X	Q	+	1	0	NBEA	34517479	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.855000	0.69510	2.728000	0.93425	0.561000	0.74099	CAG		0.323	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015678		7	14	0	0	0	0.02938	0	7	14		
ENOX1	55068	broad.mit.edu	37	13	43935581	43935581	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:43935581G>A	ENST00000261488.6	-	6	793	c.216C>T	c.(214-216)atC>atT	p.I72I	ENOX1_ENST00000540032.1_5'Flank|ENOX1_ENST00000412891.1_Silent_p.I72I|ENOX1_ENST00000482207.1_5'Flank	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	72					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)	p.I72I(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTGGGACACAGATTGAGTCTG	0.413																																						uc001uza.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(1)|skin(1)	2						c.(214-216)ATC>ATT		ecto-NOX disulfide-thiol exchanger 1							71.0	77.0	75.0					13																	43935581		2203	4300	6503	SO:0001819	synonymous_variant	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43935581G>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.216C>T	13.37:g.43935581G>A						ENOX1_uc001uzb.3_Silent_p.I72I|ENOX1_uc001uzc.3_Silent_p.I72I|ENOX1_uc010tfm.1_5'Flank	p.I72I	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	6	516	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	72					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	ENST00000261488.6	37	c.216C>T	CCDS9389.1																																																																																				0.413	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2		NM_017993		20	52	0	0	0	0.055883	0	20	52		
KPNA3	3839	broad.mit.edu	37	13	50306520	50306520	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:50306520C>G	ENST00000261667.3	-	6	784	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	124					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.E124Q(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TCATCCCTTTCTAGACATTTG	0.308																																						uc001vdj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(370-372)GAA>CAA		karyopherin alpha 3							58.0	62.0	60.0					13																	50306520		2203	4289	6492	SO:0001583	missense	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50306520C>G	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.370G>C	13.37:g.50306520C>G	ENSP00000261667:p.Glu124Gln						p.E124Q	NM_002267	NP_002258	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	6	785	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	124			ARM 2.		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	ENST00000261667.3	37	c.370G>C	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064497	0.55432	.	.	ENSG00000102753	ENST00000261667	T	0.27557	1.66	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23054	0.0557	N	0.13299	0.325	0.80722	D	1	B	0.14805	0.011	B	0.22152	0.038	T	0.07809	-1.0753	10	0.19147	T	0.46	-17.8202	20.3396	0.98756	0.0:1.0:0.0:0.0	.	124	O00505	IMA3_HUMAN	Q	124	ENSP00000261667:E124Q	ENSP00000261667:E124Q	E	-	1	0	KPNA3	49204521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.812000	0.96745	0.555000	0.69702	GAA		0.308	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2		NM_002267		25	64	0	0	0	0.0918	0	25	64		
NIN	51199	broad.mit.edu	37	14	51226630	51226630	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:51226630C>T	ENST00000382041.3	-	17	2534	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	NIN_ENST00000324330.9_Missense_Mutation_p.E782K|NIN_ENST00000530997.2_Missense_Mutation_p.E782K|NIN_ENST00000245441.5_Missense_Mutation_p.E782K|NIN_ENST00000453196.1_Missense_Mutation_p.E782K|NIN_ENST00000389868.3_Missense_Mutation_p.E782K|NIN_ENST00000382043.4_Missense_Mutation_p.E782K	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	782					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.E782K(2)|p.E788K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTAACTCCTCTTTCTCAAGA	0.507			T	PDGFRB	MPD																																	uc001wym.2		NaN		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		urinary_tract(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(2344-2346)GAG>AAG		ninein isoform 5							157.0	155.0	156.0					14																	51226630		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51226630C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2344G>A	14.37:g.51226630C>T	ENSP00000371472:p.Glu782Lys					NIN_uc001wyi.2_Missense_Mutation_p.E782K|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.E782K|NIN_uc010tqp.1_Missense_Mutation_p.E788K|NIN_uc001wyo.2_Missense_Mutation_p.E782K	p.E782K	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			17	2535	-	all_epithelial(31;0.00244)|Breast(41;0.127)		782			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.2344G>A	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.45|18.45	3.626405|3.626405	0.66901|0.66901	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|.	0.13538|.	3.26;2.58;2.59;2.99;2.99;2.99|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.288334|.	0.37955|.	N|.	0.001870|.	T|T	0.68265|0.68265	0.2982|0.2982	L|L	0.43152|0.43152	1.355|1.355	0.41569|0.41569	D|D	0.988677|0.988677	B;B;B;P;B|.	0.45348|.	0.057;0.033;0.006;0.856;0.011|.	B;B;B;B;B|.	0.44044|.	0.041;0.037;0.009;0.439;0.016|.	T|T	0.63220|0.63220	-0.6686|-0.6686	10|5	0.30854|.	T|.	0.27|.	-5.6717|-5.6717	19.0522|19.0522	0.93051|0.93051	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	788;782;782;782;782|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	K|K	782;765;782;782;788;782;782;782|272	ENSP00000245441:E782K;ENSP00000374518:E782K;ENSP00000371474:E782K;ENSP00000371472:E782K;ENSP00000324210:E782K;ENSP00000412391:E782K|.	ENSP00000245441:E782K|.	E|R	-|-	1|2	0|0	NIN|NIN	50296380|50296380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	3.174000|3.174000	0.50847|0.50847	2.739000|2.739000	0.93911|0.93911	0.467000|0.467000	0.42956|0.42956	GAG|AGA		0.507	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946		111	223	0	0	0	0.048971	0	111	223		
SLC38A6	145389	broad.mit.edu	37	14	61486269	61486269	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:61486269C>A	ENST00000267488.4	+	5	490	c.374C>A	c.(373-375)gCa>gAa	p.A125E	SLC38A6_ENST00000456840.2_Missense_Mutation_p.A102E|SLC38A6_ENST00000354886.2_Missense_Mutation_p.A125E	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	125					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.A125E(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTGGTGGTGGCAGGCACCATA	0.313																																						uc001xfg.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(373-375)GCA>GAA		solute carrier family 38, member 6							140.0	137.0	138.0					14																	61486269		2203	4300	6503	SO:0001583	missense	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61486269C>A	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.374C>A	14.37:g.61486269C>A	ENSP00000267488:p.Ala125Glu					SLC38A6_uc001xfh.1_Missense_Mutation_p.A125E|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.A102E	p.A125E	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	5	490	+			125			Helical; (Potential).		C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.374C>A	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301262	0.60195	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000526105	T;T;T;T;T	0.02345	4.33;4.33;4.33;4.33;4.33	5.87	5.87	0.94306	.	0.050714	0.85682	D	0.000000	T	0.13372	0.0324	L	0.52823	1.66	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.989;0.991	T	0.00057	-1.2172	10	0.59425	D	0.04	-2.5112	19.2108	0.93753	0.0:1.0:0.0:0.0	.	102;125;125	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	E	125;125;120;102;71	ENSP00000346959:A125E;ENSP00000267488:A125E;ENSP00000395851:A120E;ENSP00000413863:A102E;ENSP00000451244:A71E	ENSP00000267488:A125E	A	+	2	0	SLC38A6	60556022	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	3.315000	0.51951	2.778000	0.95560	0.650000	0.86243	GCA		0.313	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1				44	105	1	0	2.13384e-23	0.048971	2.31403e-23	44	105		
SMOC1	64093	broad.mit.edu	37	14	70459181	70459181	+	Missense_Mutation	SNP	G	G	A	rs199928475		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:70459181G>A	ENST00000381280.4	+	6	827	c.574G>A	c.(574-576)Gat>Aat	p.D192N	SMOC1_ENST00000361956.3_Missense_Mutation_p.D192N	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	192					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.D192N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GCCGGTGTTCGATGGAGATGG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		17619	0.001		0.0	False		,,,				2504	0.0					uc001xls.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(574-576)GAT>AAT		secreted modular calcium-binding protein 1							161.0	163.0	162.0					14																	70459181		2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70459181G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.574G>A	14.37:g.70459181G>A	ENSP00000370680:p.Asp192Asn					SMOC1_uc001xlt.1_Missense_Mutation_p.D192N	p.D192N	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	6	827	+			192					A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.574G>A	CCDS9798.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.1	3.936657	0.73442	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.56776	0.44;0.44	5.28	5.28	0.74379	.	0.053244	0.85682	D	0.000000	T	0.46580	0.1400	L	0.27053	0.805	0.58432	D	0.999993	D;P	0.55385	0.971;0.897	P;B	0.46076	0.503;0.212	T	0.33675	-0.9859	10	0.24483	T	0.36	-15.5361	18.9026	0.92449	0.0:0.0:1.0:0.0	.	192;192	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	N	192	ENSP00000355110:D192N;ENSP00000370680:D192N	ENSP00000355110:D192N	D	+	1	0	SMOC1	69528934	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	9.714000	0.98744	2.478000	0.83669	0.555000	0.69702	GAT		0.413	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1				11	67	0	0	0	0.080935	0	11	67		
C14orf159	80017	broad.mit.edu	37	14	91681828	91681828	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:91681828G>A	ENST00000523771.1	+	13	2232	c.1629G>A	c.(1627-1629)ctG>ctA	p.L543L	C14orf159_ENST00000525393.2_Silent_p.L419L|C14orf159_ENST00000521077.2_Silent_p.L508L|C14orf159_ENST00000256324.10_Silent_p.L548L|C14orf159_ENST00000522322.1_Silent_p.L543L|C14orf159_ENST00000428926.2_Silent_p.L543L|C14orf159_ENST00000520328.1_Silent_p.L491L|C14orf159_ENST00000523816.1_Silent_p.L543L|C14orf159_ENST00000518868.1_Silent_p.L548L|C14orf159_ENST00000412671.2_Silent_p.L548L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	543						mitochondrion (GO:0005739)		p.L543L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GTCAGTACCTGAGGAAAGCAG	0.567																																						uc001xzb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(1627-1629)CTG>CTA		hypothetical protein LOC80017 isoform a							103.0	92.0	96.0					14																	91681828		2203	4300	6503	SO:0001819	synonymous_variant	80017					mitochondrion		g.chr14:91681828G>A	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1629G>A	14.37:g.91681828G>A						C14orf159_uc001xyx.2_Silent_p.L491L|C14orf159_uc001xyw.2_Silent_p.L548L|C14orf159_uc001xzc.2_Silent_p.L543L|C14orf159_uc001xza.2_Silent_p.L548L|C14orf159_uc001xyv.2_Silent_p.L508L|C14orf159_uc001xyz.2_Silent_p.L419L|C14orf159_uc001xze.2_Silent_p.L543L	p.L543L	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	15	2397	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	543					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	37	c.1629G>A	CCDS32141.1																																																																																				0.567	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1		NM_024952		44	126	0	0	0	0.048971	0	44	126		
GPR68	8111	broad.mit.edu	37	14	91700960	91700960	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:91700960G>A	ENST00000531499.2	-	2	774	c.435C>T	c.(433-435)atC>atT	p.I145I	GPR68_ENST00000238699.3_Silent_p.I155I|GPR68_ENST00000535815.1_Silent_p.I145I|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	145					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I155I(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTTGGCCCAGATGACCACGC	0.627																																						uc001xzg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(1)	1						c.(433-435)ATC>ATT		G protein-coupled receptor 68							70.0	52.0	58.0					14																	91700960		2203	4300	6503	SO:0001819	synonymous_variant	8111				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700960G>A	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.435C>T	14.37:g.91700960G>A						GPR68_uc001xzh.2_Silent_p.I155I	p.I145I	NM_003485	NP_003476	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	776	-		all_cancers(154;0.0555)	145			Helical; Name=4; (Potential).		Q13334|Q4VBB4|Q6IX34	Silent	SNP	ENST00000531499.2	37	c.435C>T	CCDS9894.2																																																																																				0.627	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2				12	29	0	0	0	0.080935	0	12	29		
TRIP11	9321	broad.mit.edu	37	14	92506013	92506013	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:92506013C>T	ENST00000267622.4	-	1	390	c.17G>A	c.(16-18)gGg>gAg	p.G6E	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>GAG		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>T	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>A	14.37:g.92506013C>T	ENSP00000267622:p.Gly6Glu					TRIP11_uc001xzz.3_RNA	p.G6E	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>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005433	0.93287	.	.	ENSG00000100815	ENST00000267622	T	0.18174	2.23	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02075	-1.1218	10	0.48119	T	0.1	.	19.6367	0.95736	0.0:1.0:0.0:0.0	.	6	Q15643	TRIPB_HUMAN	E	6	ENSP00000267622:G6E	ENSP00000267622:G6E	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				6	15	0	0	0	0.038147	0	6	15		
PLD4	122618	broad.mit.edu	37	14	105397201	105397201	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:105397201G>A	ENST00000392593.4	+	7	1008	c.840G>A	c.(838-840)caG>caA	p.Q280Q	PLD4_ENST00000540372.1_Silent_p.Q287Q|PLD4_ENST00000553861.1_5'Flank	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	280					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)	p.Q263Q(1)|p.Q280Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			CCTGGCCTCAGAACTTCTCAT	0.567																																						uc001ypu.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(1)|skin(1)	2						c.(838-840)CAG>CAA		phospholipase D4	Choline(DB00122)						119.0	127.0	125.0					14																	105397201		1918	4124	6042	SO:0001819	synonymous_variant	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105397201G>A		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.840G>A	14.37:g.105397201G>A						PLD4_uc010tyl.1_Silent_p.Q287Q	p.Q280Q	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		7	981	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	280					Q6UWD2	Silent	SNP	ENST00000392593.4	37	c.840G>A	CCDS9995.2																																																																																				0.567	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2		NM_138790		68	156	0	0	0	0.048971	0	68	156		
BUB1B	701	broad.mit.edu	37	15	40500941	40500941	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:40500941G>A	ENST00000287598.6	+	16	2308	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	BUB1B_ENST00000412359.3_Missense_Mutation_p.E719K	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	705					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E705K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCAAATTCCTGAGAAACTAGA	0.423			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3		NaN	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			1	Substitution - Missense(1)		urinary_tract(1)	stomach(2)|ovary(1)|kidney(1)	4						c.(2113-2115)GAG>AAG		budding uninhibited by benzimidazoles 1 beta							68.0	61.0	63.0					15																	40500941		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40500941G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2113G>A	15.37:g.40500941G>A	ENSP00000287598:p.Glu705Lys						p.E705K	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	16	2325	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	705					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.2113G>A	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147523	0.77888	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15834	2.4;2.39	4.91	3.97	0.46021	.	0.000000	0.64402	D	0.000003	T	0.18341	0.0440	M	0.68952	2.095	0.37979	D	0.933529	P	0.46020	0.871	B	0.37601	0.254	T	0.14924	-1.0455	10	0.25751	T	0.34	-2.4102	14.1197	0.65180	0.0:0.1514:0.8486:0.0	.	705	O60566	BUB1B_HUMAN	K	705;719;588	ENSP00000287598:E705K;ENSP00000398470:E719K	ENSP00000287598:E705K	E	+	1	0	BUB1B	38288233	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.369000	0.52365	1.003000	0.39130	0.650000	0.86243	GAG		0.423	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4				15	57	0	0	0	0.020292	0	15	57		
INO80	54617	broad.mit.edu	37	15	41388034	41388034	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:41388034G>A	ENST00000361937.3	-	3	660	c.236C>T	c.(235-237)tCa>tTa	p.S79L	INO80_ENST00000401393.3_Missense_Mutation_p.S79L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	79	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.S79L(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACCAAGCAATGAATTTGGAGG	0.433																																						uc001zni.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(235-237)TCA>TTA		INO80 complex homolog 1							69.0	72.0	71.0					15																	41388034		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41388034G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.236C>T	15.37:g.41388034G>A	ENSP00000355205:p.Ser79Leu					INO80_uc010ucu.1_RNA	p.S79L	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			3	449	-			79			Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.236C>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600284	0.66332	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91237	-2.81;-2.81	6.08	6.08	0.98989	.	0.448833	0.23999	N	0.042494	D	0.85173	0.5636	N	0.14661	0.345	0.45318	D	0.998314	B	0.13594	0.008	B	0.14578	0.011	T	0.78001	-0.2375	10	0.49607	T	0.09	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	79	Q9ULG1	INO80_HUMAN	L	79	ENSP00000355205:S79L;ENSP00000384686:S79L	ENSP00000355205:S79L	S	-	2	0	INO80	39175326	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.255000	0.72466	2.894000	0.99253	0.591000	0.81541	TCA		0.433	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		27	71	0	0	0	0.099896	0	27	71		
NUSAP1	51203	broad.mit.edu	37	15	41657737	41657737	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:41657737G>C	ENST00000559596.1	+	7	885	c.798G>C	c.(796-798)ctG>ctC	p.L266L	NUSAP1_ENST00000450592.2_Silent_p.L242L|NUSAP1_ENST00000414849.2_Silent_p.L265L|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450318.1_Silent_p.L266L|NUSAP1_ENST00000560177.1_Silent_p.L265L|NUSAP1_ENST00000260359.6_Silent_p.L251L|NUSAP1_ENST00000560747.1_Silent_p.L264L			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	266	Interaction with microtubules. {ECO:0000250}.				establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L266L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CCTTGGGTCTGAAGGGGTCAC	0.502																																						uc001zns.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(796-798)CTG>CTC		nucleolar and spindle associated protein 1							33.0	32.0	33.0					15																	41657737		1896	4133	6029	SO:0001819	synonymous_variant	51203				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	g.chr15:41657737G>C	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.798G>C	15.37:g.41657737G>C						NUSAP1_uc001znq.3_Silent_p.L71L|NUSAP1_uc001znr.3_Silent_p.L265L|NUSAP1_uc010bce.2_Silent_p.L266L|NUSAP1_uc001znt.3_Silent_p.L251L|NUSAP1_uc001znv.3_Silent_p.L264L|NUSAP1_uc001znu.3_Silent_p.L265L|NUSAP1_uc010ucw.1_Silent_p.L242L|NUSAP1_uc001znw.3_Silent_p.L70L	p.L266L	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)	7	1028	+		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	266			Interaction with microtubules (By similarity).		B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Silent	SNP	ENST00000559596.1	37	c.798G>C	CCDS45234.1																																																																																				0.502	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1		NM_016359		5	26	0	0	0	0.021553	0	5	26		
LIPC	3990	broad.mit.edu	37	15	58861007	58861007	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:58861007C>G	ENST00000356113.6	+	11	2096	c.1481C>G	c.(1480-1482)tCa>tGa	p.S494*	LIPC_ENST00000433326.2_Nonsense_Mutation_p.S433*|LIPC_ENST00000299022.5_Nonsense_Mutation_p.S494*			P11150	LIPC_HUMAN	lipase, hepatic	494					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.S494*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCTAAAACATCAAAGCGAAAG	0.348																																						uc010bga.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1480-1482)TCA>TGA		lipase C precursor							66.0	63.0	64.0					15																	58861007		2192	4292	6484	SO:0001587	stop_gained	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58861007C>G		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1481C>G	15.37:g.58861007C>G	ENSP00000348425:p.Ser494*					LIPC_uc002afa.1_Nonsense_Mutation_p.S494*|LIPC_uc010ugy.1_Nonsense_Mutation_p.S433*	p.S494*	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	11	2089	+		Colorectal(260;0.215)	494					A2RUB4|A8K9B6|O43571|P78529|Q99465	Nonsense_Mutation	SNP	ENST00000356113.6	37	c.1481C>G	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217063	0.58560	.	.	ENSG00000166035	ENST00000356113;ENST00000299022;ENST00000433326	.	.	.	5.65	-6.62	0.01813	.	3.542700	0.00748	N	0.001049	.	.	.	.	.	.	0.33230	D	0.555801	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	2.0858	0.03645	0.2796:0.4034:0.1869:0.1301	.	.	.	.	X	494;494;433	.	ENSP00000299022:S494X	S	+	2	0	LIPC	56648299	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-2.652000	0.00856	-0.943000	0.03691	0.655000	0.94253	TCA		0.348	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1				8	28	0	0	0	0.047766	0	8	28		
FAM63B	54629	broad.mit.edu	37	15	59146724	59146724	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:59146724C>G	ENST00000559228.1	+	9	1863	c.1781C>G	c.(1780-1782)tCt>tGt	p.S594C	FAM63B_ENST00000450403.2_Missense_Mutation_p.S593C|RP11-30K9.5_ENST00000558042.1_RNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	594								p.S594C(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GGAAGACAATCTGGGAATAGT	0.378																																						uc002afj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1780-1782)TCT>TGT		hypothetical protein LOC54629 isoform a							62.0	59.0	60.0					15																	59146724		1852	4099	5951	SO:0001583	missense	54629							g.chr15:59146724C>G	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1781C>G	15.37:g.59146724C>G	ENSP00000452885:p.Ser594Cys					FAM63B_uc002afi.2_Missense_Mutation_p.S593C|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	p.S594C	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN			9	1983	+			594					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1781C>G	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231345	0.79688	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.50813	0.73	5.96	5.96	0.96718	.	0.491252	0.24490	N	0.038073	T	0.46425	0.1392	N	0.08118	0	0.32481	N	0.541544	D;D	0.63880	0.988;0.993	P;P	0.56514	0.635;0.8	T	0.56481	-0.7972	10	0.49607	T	0.09	-0.8189	19.4074	0.94653	0.0:1.0:0.0:0.0	.	594;593	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	C	594;593	ENSP00000393231:S593C	ENSP00000326194:S594C	S	+	2	0	FAM63B	56934016	1.000000	0.71417	0.899000	0.35326	0.995000	0.86356	4.975000	0.63777	2.831000	0.97527	0.650000	0.86243	TCT		0.378	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1		NM_019092		22	59	0	0	0	0.069288	0	22	59		
CILP	8483	broad.mit.edu	37	15	65491367	65491367	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:65491367C>G	ENST00000261883.4	-	9	1423	c.1257G>C	c.(1255-1257)caG>caC	p.Q419H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	419					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.Q419H(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGGTGGCATTCTGAAAGCAAT	0.507																																						uc002aon.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(2)|skin(1)	7						c.(1255-1257)CAG>CAC		cartilage intermediate layer protein							60.0	58.0	59.0					15																	65491367		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65491367C>G	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1257G>C	15.37:g.65491367C>G	ENSP00000261883:p.Gln419His						p.Q419H	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	1438	-			419					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.1257G>C	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531633	0.45073	.	.	ENSG00000138615	ENST00000261883	T	0.44482	0.92	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	M	0.80422	2.495	0.51012	D	0.999903	D	0.89917	1.0	D	0.85130	0.997	T	0.67296	-0.5706	10	0.87932	D	0	-16.9442	8.8704	0.35311	0.0:0.8436:0.0:0.1564	.	419	O75339	CILP1_HUMAN	H	419	ENSP00000261883:Q419H	ENSP00000261883:Q419H	Q	-	3	2	CILP	63278420	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.288000	0.33296	2.861000	0.98227	0.655000	0.94253	CAG		0.507	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1		NM_003613		27	95	0	0	0	0.037714	0	27	95		
TLE3	7090	broad.mit.edu	37	15	70346924	70346924	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:70346924G>A	ENST00000558939.1	-	16	3065	c.1688C>T	c.(1687-1689)tCg>tTg	p.S563L	TLE3_ENST00000539550.1_Missense_Mutation_p.S490L|TLE3_ENST00000558379.1_Missense_Mutation_p.S558L|TLE3_ENST00000442299.2_Missense_Mutation_p.S555L|TLE3_ENST00000560589.1_Missense_Mutation_p.S507L|TLE3_ENST00000559929.1_Missense_Mutation_p.S573L|TLE3_ENST00000317509.8_Missense_Mutation_p.S551L|TLE3_ENST00000557907.1_Missense_Mutation_p.S555L|TLE3_ENST00000558201.1_Missense_Mutation_p.S569L|TLE3_ENST00000559048.1_Missense_Mutation_p.S563L|TLE3_ENST00000557997.1_Missense_Mutation_p.S555L|TLE3_ENST00000560939.1_Missense_Mutation_p.S565L|TLE3_ENST00000451782.2_Missense_Mutation_p.S560L|TLE3_ENST00000559191.1_Missense_Mutation_p.S144L|TLE3_ENST00000440567.3_Missense_Mutation_p.S553L	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	563					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S563L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGGCGTGGGCGAGGCCAGGTC	0.652																																						uc002asm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)	2						c.(1687-1689)TCG>TTG		transducin-like enhancer protein 3 isoform a							29.0	34.0	32.0					15																	70346924		2186	4292	6478	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70346924G>A	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1688C>T	15.37:g.70346924G>A	ENSP00000452871:p.Ser563Leu					TLE3_uc002ask.2_Missense_Mutation_p.S490L|TLE3_uc002asl.2_Missense_Mutation_p.S563L|TLE3_uc010ukd.1_Missense_Mutation_p.S553L|TLE3_uc010bik.1_Missense_Mutation_p.S144L|TLE3_uc010bil.1_Missense_Mutation_p.S560L|TLE3_uc002asn.2_Missense_Mutation_p.S551L|TLE3_uc002asp.2_Missense_Mutation_p.S555L|TLE3_uc002aso.2_Missense_Mutation_p.S558L	p.S563L	NM_005078	NP_005069	Q04726	TLE3_HUMAN			16	2807	-			563			WD 2.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1688C>T	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079678	0.76528	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.60299	2.79;2.79;0.2;2.79;2.79	4.83	2.9	0.33743	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.065318	0.64402	D	0.000005	T	0.66587	0.2804	M	0.80982	2.52	0.58432	D	0.999994	P;P;B;B;P;B;B;P	0.50369	0.677;0.714;0.436;0.162;0.934;0.444;0.407;0.58	B;B;B;B;P;B;B;B	0.52598	0.22;0.158;0.147;0.048;0.703;0.048;0.157;0.103	T	0.68258	-0.5456	10	0.87932	D	0	-18.8915	8.7113	0.34385	0.0796:0.0:0.7689:0.1515	.	553;560;555;558;551;563;563;490	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	L	555;560;563;553;490	ENSP00000390007:S555L;ENSP00000394717:S560L;ENSP00000319233:S563L;ENSP00000415057:S553L;ENSP00000442594:S490L	ENSP00000319233:S563L	S	-	2	0	TLE3	68133978	1.000000	0.71417	0.862000	0.33874	0.996000	0.88848	9.530000	0.98051	0.598000	0.29829	0.462000	0.41574	TCG		0.652	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1		NM_005078		13	30	0	0	0	0.09319	0	13	30		
CPEB1	64506	broad.mit.edu	37	15	83296112	83296112	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:83296112C>G	ENST00000562019.1	-	2	338	c.22G>C	c.(22-24)Gaa>Caa	p.E8Q	CPEB1_ENST00000568128.1_Missense_Mutation_p.E8Q|CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000563800.1_Missense_Mutation_p.E35Q			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	8					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.E8Q(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTTCCTGCTTCTTCTTCCTAG	0.398																																						uc002bit.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(202-204)GAA>CAA		cytoplasmic polyadenylation element binding							67.0	64.0	65.0					15																	83296112		1861	4095	5956	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83296112C>G	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.22G>C	15.37:g.83296112C>G	ENSP00000457836:p.Glu8Gln					CPEB1_uc002biu.2_Missense_Mutation_p.E35Q|CPEB1_uc010uof.1_5'UTR|CPEB1_uc002biv.2_Missense_Mutation_p.E8Q	p.E68Q	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		2	339	-			8					B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.202G>C		.	.	.	.	.	.	.	.	.	.	C	17.54	3.414474	0.62511	.	.	ENSG00000214575	ENST00000450751;ENST00000398593	.	.	.	5.77	5.77	0.91146	.	0.343317	0.27000	U	0.021432	T	0.52549	0.1741	N	0.14661	0.345	0.80722	D	1	B;B;B	0.26258	0.062;0.045;0.145	B;B;B	0.32289	0.063;0.09;0.143	T	0.49943	-0.8885	9	0.46703	T	0.11	-0.003	20.0007	0.97408	0.0:1.0:0.0:0.0	.	8;8;8	Q9BZB8-3;Q9BZB8;E7ET70	.;CPEB1_HUMAN;.	Q	8	.	ENSP00000381593:E8Q	E	-	1	0	CPEB1	81093167	1.000000	0.71417	0.831000	0.32960	0.910000	0.53928	5.573000	0.67417	2.726000	0.93360	0.650000	0.86243	GAA		0.398	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1		NM_030594		10	41	0	0	0	0.058154	0	10	41		
CAPN15	6650	broad.mit.edu	37	16	601635	601635	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:601635C>T	ENST00000219611.2	+	9	2679	c.2316C>T	c.(2314-2316)gtC>gtT	p.V772V	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	772	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V772V(1)									GTGAGGGTGTCTTCTGGATGG	0.672																																						uc002chi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(2314-2316)GTC>GTT		small optic lobes							42.0	49.0	47.0					16																	601635		2200	4297	6497	SO:0001819	synonymous_variant	6650				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:601635C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2316C>T	16.37:g.601635C>T						SOLH_uc002chj.2_5'Flank	p.V772V	NM_005632	NP_005623	O75808	CAN15_HUMAN			9	2679	+		Hepatocellular(780;0.00335)	772			Calpain catalytic.		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	c.2316C>T	CCDS10410.1																																																																																				0.672	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1		NM_005632		30	55	0	0	0	0.050027	0	30	55		
PKD1	5310	broad.mit.edu	37	16	2155925	2155925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:2155925G>A	ENST00000262304.4	-	20	8012	c.7804C>T	c.(7804-7806)Cag>Tag	p.Q2602*	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Nonsense_Mutation_p.Q2602*	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2602	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q2602*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGATCGGCCTGCCGCAGCAGC	0.657																																						uc002cos.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(2)|skin(1)	3						c.(7804-7806)CAG>TAG		polycystin 1 isoform 1 precursor							40.0	44.0	43.0					16																	2155925		1407	2485	3892	SO:0001587	stop_gained	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2155925G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7804C>T	16.37:g.2155925G>A	ENSP00000262304:p.Gln2602*					PKD1_uc002cot.1_Nonsense_Mutation_p.Q2602*|PKD1_uc010bse.1_5'Flank	p.Q2602*	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			20	8013	-			2602			Extracellular (Potential).|REJ.		Q15140|Q15141	Nonsense_Mutation	SNP	ENST00000262304.4	37	c.7804C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	36	5.732417	0.96856	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.02	0.89252	0.0:0.0:1.0:0.0	.	.	.	.	X	2602;2602;1953;881	.	ENSP00000262304:Q2602X	Q	-	1	0	PKD1	2095926	1.000000	0.71417	0.948000	0.38648	0.073000	0.16967	8.610000	0.90902	2.480000	0.83734	0.538000	0.68166	CAG		0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1				20	51	0	0	0	0.043863	0	20	51		
SRRM2	23524	broad.mit.edu	37	16	2813979	2813979	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:2813979G>A	ENST00000301740.8	+	11	3999	c.3450G>A	c.(3448-3450)tcG>tcA	p.S1150S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1150	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.S1150S(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGTGGACTCGAATTCTCTCT	0.478																																						uc002crk.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|large_intestine(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(3448-3450)TCG>TCA		splicing coactivator subunit SRm300							88.0	93.0	91.0					16																	2813979		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813979G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3450G>A	16.37:g.2813979G>A						SRRM2_uc002crj.1_Silent_p.S1054S|SRRM2_uc002crl.1_Silent_p.S1150S|SRRM2_uc010bsu.1_Silent_p.S1054S	p.S1150S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	3999	+			1150			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.3450G>A	CCDS32373.1																																																																																				0.478	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				35	129	0	0	0	0.064281	0	35	129		
CREBBP	1387	broad.mit.edu	37	16	3781375	3781375	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:3781375G>A	ENST00000262367.5	-	30	5799	c.4990C>T	c.(4990-4992)Cgc>Tgc	p.R1664C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1626C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1664	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity). {ECO:0000269|PubMed:12566391, ECO:0000269|PubMed:15706485}.		cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1664C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGGCGTCGCGCCCATCCATG	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4990-4992)CGC>TGC		CREB binding protein isoform a							60.0	41.0	48.0					16																	3781375		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3781375G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4990C>T	16.37:g.3781375G>A	ENSP00000262367:p.Arg1664Cys					CREBBP_uc002cvw.2_Missense_Mutation_p.R1626C	p.R1664C	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5194	-		Ovarian(90;0.0266)	1664		R -> H (in RSTS1; abolishes acetyltransferase activity).	Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4990C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.042873	0.55003	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93189	-3.18;-3.08	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	D	0.97498	0.9181	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.98070	1.0398	10	0.87932	D	0	-23.3927	14.9919	0.71396	0.0:0.0:0.8575:0.1425	.	1694;1664	Q4LE28;Q92793	.;CBP_HUMAN	C	1664;1694;1626;199	ENSP00000262367:R1664C;ENSP00000371502:R1626C	ENSP00000262367:R1664C	R	-	1	0	CREBBP	3721376	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	4.495000	0.60353	2.780000	0.95670	0.655000	0.94253	CGC		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		6	10	0	0	0	0.021553	0	6	10		
DRC7	84229	broad.mit.edu	37	16	57755605	57755605	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:57755605C>A	ENST00000360716.3	+	10	1454	c.1233C>A	c.(1231-1233)ttC>ttA	p.F411L	CCDC135_ENST00000394337.4_Missense_Mutation_p.F411L|CCDC135_ENST00000336825.8_Missense_Mutation_p.F346L			Q8IY82	CC135_HUMAN		411					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.F411L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATAAGAGCTTCGACATGCCCC	0.532																																						uc002emi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1231-1233)TTC>TTA		coiled-coil domain containing 135							120.0	107.0	111.0					16																	57755605		2197	4300	6497	SO:0001583	missense	84229					cytoplasm		g.chr16:57755605C>A																												ENST00000360716.3:c.1233C>A	16.37:g.57755605C>A	ENSP00000353942:p.Phe411Leu					CCDC135_uc002emj.2_Missense_Mutation_p.F411L|CCDC135_uc002emk.2_Missense_Mutation_p.F346L	p.F411L	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			9	1322	+			411					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1233C>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	11.19	1.566827	0.28003	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.11495	2.77;2.77;2.77	4.96	0.752	0.18398	.	0.052144	0.85682	D	0.000000	T	0.06735	0.0172	L	0.37800	1.135	0.49687	D	0.999816	P;P	0.42692	0.787;0.613	B;B	0.39217	0.294;0.271	T	0.45411	-0.9263	10	0.19147	T	0.46	-32.802	5.6703	0.17719	0.0:0.4209:0.0:0.5791	.	346;411	Q8IY82-2;Q8IY82	.;CC135_HUMAN	L	411;346;411	ENSP00000377869:F411L;ENSP00000338938:F346L;ENSP00000353942:F411L	ENSP00000338938:F346L	F	+	3	2	CCDC135	56313106	0.945000	0.32115	1.000000	0.80357	0.984000	0.73092	-0.204000	0.09425	0.275000	0.22094	0.651000	0.88453	TTC		0.532	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2				22	63	1	0	6.38683e-12	0.037714	6.68836e-12	22	63		
CDH3	1001	broad.mit.edu	37	16	68718667	68718667	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:68718667C>T	ENST00000264012.4	+	10	1908	c.1364C>T	c.(1363-1365)aCt>aTt	p.T455I	CDH3_ENST00000429102.2_Missense_Mutation_p.T455I|CDH3_ENST00000581171.1_Missense_Mutation_p.T400I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.T455I(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGCATCCCCACTGGGGAGCCT	0.552																																						uc002ewf.2		NaN																	3	Unknown(2)|Substitution - Missense(1)	p.?(1)	breast(2)|urinary_tract(1)	ovary(3)|breast(1)|skin(1)	5						c.(1363-1365)ACT>ATT		cadherin 3, type 1 preproprotein							140.0	143.0	142.0					16																	68718667		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718667C>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1364C>T	16.37:g.68718667C>T	ENSP00000264012:p.Thr455Ile					CDH3_uc010vli.1_Missense_Mutation_p.T400I	p.T455I	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	2496	+		Ovarian(137;0.0564)	455			Extracellular (Potential).|Cadherin 4.		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.1364C>T	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	C	5.241	0.229993	0.09969	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.51574	0.7;0.7	5.46	-7.12	0.01537	Cadherin (3);Cadherin-like (1);	1.635430	0.03975	N	0.292448	T	0.18383	0.0441	N	0.01493	-0.835	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23048	-1.0199	10	0.20046	T	0.44	.	10.1697	0.42902	0.0:0.4544:0.0957:0.4499	.	455	P22223	CADH3_HUMAN	I	455;455;400	ENSP00000398485:T455I;ENSP00000264012:T455I	ENSP00000264012:T455I	T	+	2	0	CDH3	67276168	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.275000	0.02817	-1.533000	0.01745	0.561000	0.74099	ACT		0.552	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2		NM_001793		61	214	0	0	0	0.048971	0	61	214		
GSE1	23199	broad.mit.edu	37	16	85689517	85689517	+	Missense_Mutation	SNP	C	C	T	rs199993964	byFrequency	TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:85689517C>T	ENST00000253458.7	+	6	1159	c.983C>T	c.(982-984)gCg>gTg	p.A328V	GSE1_ENST00000405402.2_Missense_Mutation_p.A224V|GSE1_ENST00000393243.1_Missense_Mutation_p.A255V	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	328								p.A328V(1)									GGCCTCAGCGCGGAGAGGTAA	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		15478	0.0		0.0	False		,,,				2504	0.002					uc002fix.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(982-984)GCG>GTG		genetic suppressor element 1 isoform 1		C	VAL/ALA,VAL/ALA	0,4384		0,0,2192	30.0	26.0	27.0		671,983	4.9	0.1	16		27	1,8577	1.2+/-3.3	0,1,4288	no	missense,missense	KIAA0182	NM_001134473.1,NM_014615.2	64,64	0,1,6480	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	224/1114,328/1218	85689517	1,12961	2192	4289	6481	SO:0001583	missense	23199						protein binding	g.chr16:85689517C>T	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.983C>T	16.37:g.85689517C>T	ENSP00000253458:p.Ala328Val					KIAA0182_uc002fiw.2_Missense_Mutation_p.A224V|KIAA0182_uc002fiy.2_Missense_Mutation_p.A255V	p.A328V	NM_014615	NP_055430	Q14687	GSE1_HUMAN			6	1057	+			328			Potential.		D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.983C>T	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.837041|1.837041	0.32421|0.32421	0.0|0.0	1.17E-4|1.17E-4	ENSG00000131149|ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243|ENST00000412692	T;T;T|.	0.30182|.	1.54;1.54;1.54|.	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	0.250579|.	0.36555|.	N|.	0.002521|.	T|T	0.60011|0.60011	0.2236|0.2236	M|M	0.64997|0.64997	1.995|1.995	0.20196|0.20196	N|N	0.999927|0.999927	D;P|.	0.54047|.	0.964;0.94|.	B;B|.	0.43889|.	0.435;0.252|.	T|T	0.54616|0.54616	-0.8267|-0.8267	10|5	0.17369|.	T|.	0.5|.	-13.8222|-13.8222	18.0609|18.0609	0.89377|0.89377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	255;328|.	Q14687-3;Q14687|.	.;GSE1_HUMAN|.	V|W	224;328;255|135	ENSP00000384839:A224V;ENSP00000253458:A328V;ENSP00000376934:A255V|.	ENSP00000253458:A328V|.	A|R	+|+	2|1	0|2	KIAA0182|KIAA0182	84247018|84247018	0.960000|0.960000	0.32886|0.32886	0.094000|0.094000	0.20943|0.20943	0.032000|0.032000	0.12392|0.12392	4.625000|4.625000	0.61262|0.61262	2.270000|2.270000	0.75569|0.75569	0.555000|0.555000	0.69702|0.69702	GCG|CGG		0.657	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1		NM_014615		8	26	0	0	0	0.047766	0	8	26		
KLHDC4	54758	broad.mit.edu	37	16	87743101	87743101	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:87743101C>A	ENST00000270583.5	-	10	1275	c.1217G>T	c.(1216-1218)gGc>gTc	p.G406V	KLHDC4_ENST00000347925.5_Missense_Mutation_p.G375V|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.G349V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	406								p.G406V(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCCCGCCGAGCCTGGCGCGGT	0.697																																						uc002fki.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)	2						c.(1216-1218)GGC>GTC		kelch domain containing 4							31.0	33.0	32.0					16																	87743101		2194	4298	6492	SO:0001583	missense	54758							g.chr16:87743101C>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1217G>T	16.37:g.87743101C>A	ENSP00000270583:p.Gly406Val					KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Missense_Mutation_p.G375V|KLHDC4_uc002fkk.2_Missense_Mutation_p.G225V|KLHDC4_uc002fkl.2_Missense_Mutation_p.G349V|KLHDC4_uc010chu.1_Missense_Mutation_p.G225V	p.G406V	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	10	1263	-			406					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.1217G>T	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.517478	0.27123	.	.	ENSG00000104731	ENST00000270583;ENST00000347925;ENST00000353170	T;T;T	0.08282	3.83;3.11;3.63	5.27	3.25	0.37280	.	0.439796	0.24662	N	0.036635	T	0.08223	0.0205	L	0.54323	1.7	0.26842	N	0.968346	B;B;B	0.19583	0.037;0.024;0.013	B;B;B	0.19391	0.025;0.018;0.007	T	0.27123	-1.0083	10	0.33940	T	0.23	-1.2143	5.1874	0.15191	0.1507:0.6194:0.146:0.0839	.	349;375;406	Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;KLDC4_HUMAN	V	406;375;349	ENSP00000270583:G406V;ENSP00000325717:G375V;ENSP00000262530:G349V	ENSP00000270583:G406V	G	-	2	0	KLHDC4	86300602	0.001000	0.12720	0.004000	0.12327	0.050000	0.14768	0.588000	0.23924	0.568000	0.29311	0.313000	0.20887	GGC		0.697	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2		NM_017566		13	37	1	0	3.51602e-12	0.049695	3.69788e-12	13	37		
TCF25	22980	broad.mit.edu	37	16	89977011	89977011	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:89977011C>G	ENST00000263346.8	+	17	1868	c.1812C>G	c.(1810-1812)atC>atG	p.I604M	RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_5'Flank|TCF25_ENST00000263347.7_Missense_Mutation_p.Q409E	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	604					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I604M(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TAAGTCCTATCAGCCATGGAA	0.557											OREG0024057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fpb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1810-1812)ATC>ATG		NULP1							210.0	173.0	185.0					16																	89977011		2198	4298	6496	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89977011C>G	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1812C>G	16.37:g.89977011C>G	ENSP00000263346:p.Ile604Met		OREG0024057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1271	TCF25_uc002fpc.2_Missense_Mutation_p.Q409E|uc010ciy.1_5'Flank	p.I604M	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	17	1894	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	604					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1812C>G	CCDS10987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.007|0.007	-1.984122|-1.984122	0.00443|0.00443	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263346|ENST00000263347	.|.	.|.	.|.	5.2|5.2	3.18|3.18	0.36537|0.36537	.|.	0.553036|.	0.20029|.	N|.	0.100752|.	T|T	0.19406|0.19406	0.0466|0.0466	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B	0.24092|0.23806	0.097|0.091	B|B	0.27715|0.19148	0.082|0.024	T|T	0.18116|0.18116	-1.0347|-1.0347	9|8	0.28530|0.66056	T|D	0.3|0.02	.|.	8.5835|8.5835	0.33644|0.33644	0.2682:0.6583:0.0:0.0735|0.2682:0.6583:0.0:0.0735	.|.	604|409	Q9BQ70|Q9H384	TCF25_HUMAN|.	M|E	604|409	.|.	ENSP00000263346:I604M|ENSP00000263347:Q409E	I|Q	+|+	3|1	3|0	TCF25|TCF25	88504512|88504512	0.823000|0.823000	0.29233|0.29233	0.669000|0.669000	0.29828|0.29828	0.044000|0.044000	0.14063|0.14063	0.237000|0.237000	0.17985|0.17985	0.717000|0.717000	0.32145|0.32145	0.655000|0.655000	0.94253|0.94253	ATC|CAG		0.557	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2		NM_014972		21	90	0	0	0	0.069288	0	21	90		
SGSM2	9905	broad.mit.edu	37	17	2265472	2265472	+	Silent	SNP	C	C	T	rs113450178	byFrequency	TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:2265472C>T	ENST00000426855.2	+	4	541	c.366C>T	c.(364-366)ctC>ctT	p.L122L	SGSM2_ENST00000268989.3_Silent_p.L122L|SGSM2_ENST00000574563.1_Silent_p.L122L	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	122	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.L122L(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCCCGGCCCTCAGCCCTCAGG	0.642													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16516	0.0		0.0	False		,,,				2504	0.0					uc002fun.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(364-366)CTC>CTT		RUN and TBC1 domain containing 1 isoform 2		C	,	3,4403	6.2+/-15.9	0,3,2200	73.0	77.0	76.0		366,366	3.7	1.0	17	dbSNP_132	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SGSM2	NM_001098509.1,NM_014853.2	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	122/1007,122/1052	2265472	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9905					intracellular	Rab GTPase activator activity	g.chr17:2265472C>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.366C>T	17.37:g.2265472C>T						SGSM2_uc002fum.3_Silent_p.L122L|SGSM2_uc010vqw.1_Silent_p.L122L	p.L122L	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	4	541	+			122			RUN.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	c.366C>T	CCDS45570.1																																																																																				0.642	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1		NM_014853		109	125	0	0	0	0.048971	0	109	125		
EIF5A	1984	broad.mit.edu	37	17	7214697	7214697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:7214697C>A	ENST00000336458.8	+	4	700	c.299C>A	c.(298-300)tCa>tAa	p.S100*	EIF5A_ENST00000572815.1_Nonsense_Mutation_p.S100*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.S100*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.S100*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.S100*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.S130*|EIF5A_ENST00000419711.2_Nonsense_Mutation_p.S100*|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000416016.2_Nonsense_Mutation_p.S100*	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	100					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)	p.S130*(1)|p.S100*(1)		endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						GGGTACCTATCACTGCTCCAG	0.562																																						uc010vtv.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(298-300)TCA>TAA		eukaryotic translation initiation factor 5A							107.0	99.0	102.0					17																	7214697		2203	4300	6503	SO:0001587	stop_gained	1984				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7214697C>A		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.299C>A	17.37:g.7214697C>A	ENSP00000336776:p.Ser100*					EIF5A_uc002gfr.2_Nonsense_Mutation_p.S130*|EIF5A_uc002gft.2_Nonsense_Mutation_p.S100*|EIF5A_uc002gfu.2_Nonsense_Mutation_p.S100*	p.S100*	NM_001970	NP_001961	P63241	IF5A1_HUMAN			4	536	+			100					A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Nonsense_Mutation	SNP	ENST00000336458.8	37	c.299C>A	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711259	0.96821	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	.	.	.	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1859	16.3824	0.83473	0.0:1.0:0.0:0.0	.	.	.	.	X	130;100;100;100	.	ENSP00000336702:S130X	S	+	2	0	EIF5A	7155421	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	4.250000	0.58772	2.490000	0.84030	0.561000	0.74099	TCA		0.562	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3		NM_001970		26	136	1	0	1.66031e-10	0.0918	1.72389e-10	26	136		
DNAH2	146754	broad.mit.edu	37	17	7702000	7702000	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:7702000G>A	ENST00000572933.1	+	55	9983	c.8523G>A	c.(8521-8523)gaG>gaA	p.E2841E	DNAH2_ENST00000389173.2_Silent_p.E2841E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2841	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E2841E(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTCAGGCGAGGTGCCCAATC	0.512																																						uc002giu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(8521-8523)GAG>GAA		dynein heavy chain domain 3							116.0	109.0	111.0					17																	7702000		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7702000G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8523G>A	17.37:g.7702000G>A							p.E2841E	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			54	8537	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2841			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.8523G>A	CCDS32551.1																																																																																				0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		82	74	0	0	0	0.048971	0	82	74		
RPL26	6154	broad.mit.edu	37	17	8285553	8285553	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:8285553G>C	ENST00000584164.1	-	2	467	c.76C>G	c.(76-78)Cga>Gga	p.R26G	RP11-849F2.5_ENST00000585181.1_RNA|RP11-849F2.5_ENST00000579904.1_RNA|RPL26_ENST00000293842.5_Missense_Mutation_p.R26G|RP11-849F2.7_ENST00000582471.1_Missense_Mutation_p.R26G|RPL26_ENST00000583011.1_Missense_Mutation_p.R26G|RPL26_ENST00000578812.1_Missense_Mutation_p.R26G|RPL26_ENST00000585176.1_Intron|RPL26_ENST00000582556.1_Missense_Mutation_p.R26G			P61254	RL26_HUMAN	ribosomal protein L26	26					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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R26G(1)		skin(1)|urinary_tract(1)	2						ATCTTCCTTCGAATGTGGGAA	0.418																																						uc002glh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(76-78)CGA>GGA		ribosomal protein L26							87.0	78.0	81.0					17																	8285553		2203	4300	6503	SO:0001583	missense	6154				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr17:8285553G>C		CCDS11142.1	17p13	2011-04-06			ENSG00000161970	ENSG00000161970		"""L ribosomal proteins"""	10327	protein-coding gene	gene with protein product		603704				8479925	Standard	XM_005256749		Approved	L26	uc002glh.1	P61254	OTTHUMG00000108191	ENST00000584164.1:c.76C>G	17.37:g.8285553G>C	ENSP00000463784:p.Arg26Gly						p.R26G	NM_000987	NP_000978	P61254	RL26_HUMAN			2	172	-			26					B2R4F0|D3DTR8|Q02877|Q6IPY2	Missense_Mutation	SNP	ENST00000584164.1	37	c.76C>G	CCDS11142.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550943	0.45383	.	.	ENSG00000161970	ENST00000293842	.	.	.	5.17	5.17	0.71159	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.049530	0.85682	D	0.000000	D	0.84889	0.5572	M	0.92459	3.31	0.80722	D	1	D	0.53619	0.961	D	0.62955	0.909	D	0.88535	0.3105	9	0.87932	D	0	-4.7055	16.5144	0.84295	0.0:0.0:1.0:0.0	.	26	P61254	RL26_HUMAN	G	26	.	ENSP00000293842:R26G	R	-	1	2	RPL26	8226278	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.333000	0.59285	2.562000	0.86427	0.643000	0.83706	CGA		0.418	RPL26-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442322.1		NM_000987		16	89	0	0	0	0.024245	0	16	89		
MYH1	4619	broad.mit.edu	37	17	10419637	10419637	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:10419637T>G	ENST00000226207.5	-	4	321	c.227A>C	c.(226-228)cAa>cCa	p.Q76P	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	76					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q76P(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGGGAAGACTTGGTCATCTTT	0.463																																						uc002gmo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(226-228)CAA>CCA		myosin, heavy chain 1, skeletal muscle, adult							292.0	264.0	273.0					17																	10419637		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419637T>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.227A>C	17.37:g.10419637T>G	ENSP00000226207:p.Gln76Pro					uc002gml.1_Intron	p.Q76P	NM_005963	NP_005954	P12882	MYH1_HUMAN			4	321	-			76			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.227A>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554969	0.65425	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.80824	-1.42	5.5	5.5	0.81552	Myosin, N-terminal, SH3-like (1);	0.000000	0.41500	U	0.000863	D	0.87168	0.6110	M	0.83118	2.625	0.54753	D	0.999983	B	0.29627	0.252	B	0.43809	0.432	D	0.87342	0.2332	10	0.66056	D	0.02	.	15.7759	0.78214	0.0:0.0:0.0:1.0	.	76	P12882	MYH1_HUMAN	P	76	ENSP00000226207:Q76P	ENSP00000226207:Q76P	Q	-	2	0	MYH1	10360362	1.000000	0.71417	0.940000	0.37924	0.444000	0.32077	7.852000	0.86927	2.308000	0.77769	0.533000	0.62120	CAA		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1		NM_005963		56	232	0	0	0	0.048971	0	56	232		
MYH2	4620	broad.mit.edu	37	17	10442618	10442618	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:10442618C>T	ENST00000245503.5	-	14	1704	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Silent_p.L440L|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.L440L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	440	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L440L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAACCATCCACAGGAACATCT	0.473																																						uc010coi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1318-1320)CTG>CTA		myosin heavy chain IIa							173.0	169.0	170.0					17																	10442618		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442618C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1320G>A	17.37:g.10442618C>T						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.L440L|MYH2_uc010coj.2_Silent_p.L440L	p.L440L	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			14	1448	-			440			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.1320G>A	CCDS11156.1																																																																																				0.473	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		NM_017534		47	247	0	0	0	0.048971	0	47	247		
ZNF207	7756	broad.mit.edu	37	17	30685544	30685544	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:30685544C>G	ENST00000321233.6	+	3	345	c.191C>G	c.(190-192)gCc>gGc	p.A64G	ZNF207_ENST00000342555.6_Missense_Mutation_p.A67G|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.A64G|ZNF207_ENST00000394670.4_Missense_Mutation_p.A64G|ZNF207_ENST00000577908.1_Missense_Mutation_p.A64G|ZNF207_ENST00000341711.6_Intron	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	64	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A64G(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAATAGATGCCGTACCAAAT	0.323																																						uc002hhh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(190-192)GCC>GGC		zinc finger protein 207 isoform a							81.0	82.0	82.0					17																	30685544		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30685544C>G	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.191C>G	17.37:g.30685544C>G	ENSP00000322777:p.Ala64Gly					ZNF207_uc002hhj.3_Missense_Mutation_p.A64G|ZNF207_uc002hhi.3_Missense_Mutation_p.A64G|ZNF207_uc010csz.2_Missense_Mutation_p.A67G|ZNF207_uc002hhk.1_Missense_Mutation_p.A64G|ZNF207_uc002hhl.1_5'Flank	p.A64G	NM_003457	NP_003448	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	339	+		Breast(31;0.116)|Ovarian(249;0.182)	64					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.191C>G	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582906	0.46006	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000342555	T;T;T	0.42513	0.97;0.97;0.97	4.81	4.81	0.61882	.	0.103913	0.64402	D	0.000003	T	0.31104	0.0786	N	0.20766	0.605	0.80722	D	1	B;B;B;B;B	0.14438	0.005;0.01;0.01;0.004;0.004	B;B;B;B;B	0.14023	0.007;0.01;0.01;0.006;0.006	T	0.05767	-1.0865	10	0.25751	T	0.34	.	18.2267	0.89920	0.0:1.0:0.0:0.0	.	64;67;64;64;64	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	G	64;64;67;64;64	ENSP00000378165:A64G;ENSP00000378168:A64G;ENSP00000322777:A64G	ENSP00000322777:A64G	A	+	2	0	ZNF207	27709657	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.762000	0.68809	2.381000	0.81170	0.650000	0.86243	GCC		0.323	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2				24	90	0	0	0	0.099896	0	24	90		
KRTAP4-9	100132386	broad.mit.edu	37	17	39261650	39261650	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:39261650T>C	ENST00000391415.1	+	1	67	c.10T>C	c.(10-12)Tcc>Ccc	p.S4P		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	4					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S4P(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CATGGTCAGCTCCTGTTGTGG	0.592																																						uc010wfp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(10-12)TCC>CCC		keratin associated protein 4-9							10.0	13.0	12.0					17																	39261650		689	1584	2273	SO:0001583	missense	100132386					keratin filament		g.chr17:39261650T>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.10T>C	17.37:g.39261650T>C	ENSP00000375234:p.Ser4Pro						p.S4P	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			1	10	+			4						Missense_Mutation	SNP	ENST00000391415.1	37	c.10T>C	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	7.992	0.753432	0.15778	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.29655	1.56	3.32	3.32	0.38043	.	0.876243	0.09356	U	0.813471	T	0.57519	0.2059	M	0.93062	3.375	0.29705	N	0.839861	P	0.52316	0.952	P	0.55087	0.768	T	0.55321	-0.8159	10	0.62326	D	0.03	.	9.9827	0.41824	0.0:0.0:0.0:1.0	.	4	Q9BYQ8	KRA49_HUMAN	P	4	ENSP00000375234:S4P	ENSP00000334461:S4P	S	+	1	0	KRTAP4-9	36515176	0.996000	0.38824	0.989000	0.46669	0.074000	0.17049	2.314000	0.43743	1.287000	0.44583	0.155000	0.16302	TCC		0.592	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1		NM_001146041		9	28	0	0	0	0.0333	0	9	28		
EZH1	2145	broad.mit.edu	37	17	40870014	40870014	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:40870014T>C	ENST00000428826.2	-	10	1124	c.1003A>G	c.(1003-1005)Aca>Gca	p.T335A	EZH1_ENST00000585893.1_Missense_Mutation_p.T295A|EZH1_ENST00000435174.1_Missense_Mutation_p.T196A|EZH1_ENST00000415827.2_Missense_Mutation_p.T326A|EZH1_ENST00000590078.1_Missense_Mutation_p.T265A|EZH1_ENST00000592743.1_Missense_Mutation_p.T335A			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	335					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.T335A(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AAGCAGTCTGTGCCACATGGT	0.428																																						uc002iaz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1003-1005)ACA>GCA		enhancer of zeste homolog 1							161.0	146.0	151.0					17																	40870014		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40870014T>C		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1003A>G	17.37:g.40870014T>C	ENSP00000404658:p.Thr335Ala					EZH1_uc002iba.2_Missense_Mutation_p.T326A|EZH1_uc010wgt.1_Missense_Mutation_p.T265A|EZH1_uc010wgu.1_Missense_Mutation_p.T341A|EZH1_uc010wgv.1_Missense_Mutation_p.T295A|EZH1_uc010wgw.1_Missense_Mutation_p.T196A|EZH1_uc010cyp.2_Missense_Mutation_p.T236A|EZH1_uc010cyq.2_Missense_Mutation_p.T252A|EZH1_uc010cys.2_Missense_Mutation_p.T286A|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_5'UTR	p.T335A	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	10	1148	-		Breast(137;0.00104)	335					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1003A>G	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	9.108	1.005805	0.19199	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.77358	-1.09;-1.09	4.51	-2.48	0.06423	.	0.844588	0.11228	N	0.585983	T	0.46014	0.1371	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.31586	-0.9938	10	0.12430	T	0.62	.	1.1979	0.01878	0.2247:0.3103:0.1147:0.3503	.	196;295;341;335	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	A	338;335;295;196	ENSP00000404658:T335A;ENSP00000404071:T196A	ENSP00000264646:T338A	T	-	1	0	EZH1	38123540	0.006000	0.16342	0.989000	0.46669	0.998000	0.95712	-0.035000	0.12205	-0.242000	0.09667	0.460000	0.39030	ACA		0.428	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1		NM_001991		12	57	0	0	0	0.020292	0	12	57		
PLCD3	113026	broad.mit.edu	37	17	43195396	43195396	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:43195396C>T	ENST00000322765.5	-	7	1338	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	409	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.D409N(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TGGACCACGTCCCGGAAGAGA	0.657																																						uc002iib.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(2)|lung(1)	3						c.(1225-1227)GAC>AAC		phospholipase C delta 3	Phosphatidylserine(DB00144)						36.0	44.0	41.0					17																	43195396		2108	4235	6343	SO:0001583	missense	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43195396C>T	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1225G>A	17.37:g.43195396C>T	ENSP00000313731:p.Asp409Asn						p.D409N	NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN			7	1339	-			409			PI-PLC X-box.		Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	ENST00000322765.5	37	c.1225G>A		.	.	.	.	.	.	.	.	.	.	C	18.46	3.629388	0.67015	.	.	ENSG00000161714	ENST00000322765	T	0.67698	-0.28	4.06	4.06	0.47325	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.114903	0.56097	D	0.000022	T	0.81403	0.4815	.	.	.	0.38070	D	0.936355	D	0.89917	1.0	D	0.91635	0.999	D	0.85731	0.1331	9	0.66056	D	0.02	.	15.5405	0.76039	0.0:1.0:0.0:0.0	.	409	Q8N3E9	PLCD3_HUMAN	N	409	ENSP00000313731:D409N	ENSP00000313731:D409N	D	-	1	0	PLCD3	40550922	1.000000	0.71417	0.965000	0.40720	0.273000	0.26683	5.839000	0.69395	2.263000	0.75096	0.313000	0.20887	GAC		0.657	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_133373		8	31	0	0	0	0.038147	0	8	31		
PDK2	5164	broad.mit.edu	37	17	48174834	48174834	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:48174834G>C	ENST00000503176.1	+	2	327	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	PDK2_ENST00000007708.3_5'UTR	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	56					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.E56Q(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CCTCAGGCAGGAGCTGCCTGT	0.572									Autosomal Dominant Polycystic Kidney Disease																													uc002iqc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(3)	3						c.(166-168)GAG>CAG		pyruvate dehydrogenase kinase 2 precursor							93.0	76.0	82.0					17																	48174834		2203	4300	6503	SO:0001583	missense	5164	Autosomal_Dominant_Polycystic_Kidney_Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48174834G>C	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.166G>C	17.37:g.48174834G>C	ENSP00000420927:p.Glu56Gln					PDK2_uc002iqb.2_5'UTR	p.E56Q	NM_002611	NP_002602	Q15119	PDK2_HUMAN			2	270	+			56					A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.166G>C	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736485	0.89482	.	.	ENSG00000005882	ENST00000503176	T	0.39787	1.06	4.16	4.16	0.48862	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	H	0.97077	3.935	0.80722	D	1	D	0.67145	0.996	D	0.68765	0.96	D	0.84774	0.0769	10	0.87932	D	0	-22.1398	15.4358	0.75146	0.0:0.0:1.0:0.0	.	56	Q15119	PDK2_HUMAN	Q	56	ENSP00000420927:E56Q	ENSP00000420927:E56Q	E	+	1	0	PDK2	45529833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.180000	0.69256	0.638000	0.83543	GAG		0.572	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2		NM_002611		35	63	0	0	0	0.086207	0	35	63		
KIF2B	84643	broad.mit.edu	37	17	51901324	51901324	+	Silent	SNP	G	G	A	rs139246128		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:51901324G>A	ENST00000268919.4	+	1	1086	c.930G>A	c.(928-930)acG>acA	p.T310T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	310	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T310T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGGGAAGACGTACACCATGG	0.547																																						uc002iua.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|skin(3)	8						c.(928-930)ACG>ACA		kinesin family member 2B		G		1,4405	2.1+/-5.4	0,1,2202	100.0	93.0	95.0		930	-10.6	0.6	17	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous	KIF2B	NM_032559.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		310/674	51901324	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901324G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.930G>A	17.37:g.51901324G>A						uc010wna.1_RNA	p.T310T	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1086	+			310			ATP (By similarity).|Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.930G>A	CCDS32685.1																																																																																				0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1		NM_032559		64	70	0	0	0	0.048971	0	64	70		
OR4D1	26689	broad.mit.edu	37	17	56233157	56233157	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:56233157C>T	ENST00000268912.5	+	1	664	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	215					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L215L(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCTCCTCCTTCTGATCTCTTA	0.537																																						uc010wno.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(643-645)CTG>TTG		olfactory receptor, family 4, subfamily D,							132.0	125.0	127.0					17																	56233157		2203	4300	6503	SO:0001819	synonymous_variant	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56233157C>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.643C>T	17.37:g.56233157C>T						MSX2P1_uc002ivn.2_5'Flank	p.L215L	NM_012374	NP_036506	Q15615	OR4D1_HUMAN			1	643	+			215			Helical; Name=5; (Potential).		B2RN14|Q8NGB1|Q96R76	Silent	SNP	ENST00000268912.5	37	c.643C>T	CCDS42365.1																																																																																				0.537	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1				56	56	0	0	0	0.048971	0	56	56		
TRIM37	4591	broad.mit.edu	37	17	57148206	57148206	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:57148206G>A	ENST00000262294.7	-	9	1046	c.787C>T	c.(787-789)Cct>Tct	p.P263S	TRIM37_ENST00000376149.3_Missense_Mutation_p.P141S|TRIM37_ENST00000393066.3_Missense_Mutation_p.P263S|TRIM37_ENST00000393065.2_Missense_Mutation_p.P229S	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	263					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P263S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGTGGAACAGGAGTGGTAACA	0.363									Mulibrey Nanism																													uc002iwy.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(787-789)CCT>TCT		tripartite motif-containing 37 protein							120.0	112.0	115.0					17																	57148206		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57148206G>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.787C>T	17.37:g.57148206G>A	ENSP00000262294:p.Pro263Ser					TRIM37_uc002iwz.3_Missense_Mutation_p.P263S|TRIM37_uc002ixa.3_Missense_Mutation_p.P141S|TRIM37_uc010woc.1_Missense_Mutation_p.P229S	p.P263S	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			9	1231	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		263					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.787C>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961063	0.53400	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.67345	1.46;1.46;-0.26;1.07	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.77075	0.4077	L	0.50333	1.59	0.80722	D	1	B;D;B	0.89917	0.08;1.0;0.027	B;D;B	0.65443	0.067;0.935;0.034	T	0.76405	-0.2971	10	0.46703	T	0.11	-7.4216	17.5675	0.87924	0.0:0.0:1.0:0.0	.	229;141;263	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	S	263;263;141;229	ENSP00000376785:P263S;ENSP00000262294:P263S;ENSP00000365319:P141S;ENSP00000376784:P229S	ENSP00000262294:P263S	P	-	1	0	TRIM37	54502988	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.810000	0.99221	2.591000	0.87537	0.585000	0.79938	CCT		0.363	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1		NM_015294		25	94	0	0	0	0.083992	0	25	94		
SYNGR2	9144	broad.mit.edu	37	17	76167700	76167700	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:76167700C>T	ENST00000225777.3	+	3	506	c.447C>T	c.(445-447)atC>atT	p.I149I	SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000590201.1_Silent_p.I93I|SYNGR2_ENST00000585591.1_Silent_p.I149I|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000588282.1_Silent_p.I149I			O43760	SNG2_HUMAN	synaptogyrin 2	149	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)		p.I149I(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GGGCAGCCATCACCTTCAGCT	0.612																																						uc002juu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(445-447)ATC>ATT		synaptogyrin 2							63.0	59.0	61.0					17																	76167700		2203	4300	6503	SO:0001819	synonymous_variant	9144					integral to plasma membrane		g.chr17:76167700C>T	AJ002308	CCDS11753.1	17q25.3	2014-09-11			ENSG00000108639	ENSG00000108639			11499	protein-coding gene	gene with protein product	"""cellugyrin"""	603926				9760194	Standard	NM_004710		Approved		uc002juu.1	O43760	OTTHUMG00000177457	ENST00000225777.3:c.447C>T	17.37:g.76167700C>T						SYNGR2_uc002jut.2_Silent_p.I149I|SYNGR2_uc002juv.1_Intron|SYNGR2_uc010dhi.1_RNA	p.I149I	NM_004710	NP_004701	O43760	SNG2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)		3	474	+			149			MARVEL.|Helical; (Potential).		O43762|Q3KQZ2|Q658S7	Silent	SNP	ENST00000225777.3	37	c.447C>T	CCDS11753.1																																																																																				0.612	SYNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437009.2				23	51	0	0	0	0.037714	0	23	51		
BIRC5	332	broad.mit.edu	37	17	76219552	76219552	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:76219552G>A	ENST00000350051.3	+	4	465	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	BIRC5_ENST00000301633.4_Missense_Mutation_p.E139K|BIRC5_ENST00000374948.2_Silent_p.R76R|AC087645.1_ENST00000600484.1_Missense_Mutation_p.S243F|BIRC5_ENST00000589892.1_3'UTR	NM_001168.2	NP_001159.2	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	116					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E139K(1)|p.R76R(1)|p.E116K(1)		kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			CCAGGCAAAGGAAACCAACAA	0.468																																						uc002jvg.2		NaN																	3	Substitution - Missense(2)|Substitution - coding silent(1)		urinary_tract(3)	kidney(1)	1						c.(346-348)GAA>AAA		baculoviral IAP repeat-containing protein 5							55.0	60.0	58.0					17																	76219552		2203	4300	6503	SO:0001583	missense	332				anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	g.chr17:76219552G>A	U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"""Baculoviral IAP repeat containing"""	593	protein-coding gene	gene with protein product	"""survivin variant 3 alpha"""	603352	"""apoptosis inhibitor 4"", ""baculoviral IAP repeat-containing 5"""	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000350051.3:c.346G>A	17.37:g.76219552G>A	ENSP00000324180:p.Glu116Lys					BIRC5_uc002jvf.2_Missense_Mutation_p.E139K|BIRC5_uc002jvh.2_Silent_p.R76R|BIRC5_uc002jvi.2_RNA|EPR1_uc002jvj.1_RNA	p.E116K	NM_001168	NP_001159	O15392	BIRC5_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)		4	467	+			116					A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Missense_Mutation	SNP	ENST00000350051.3	37	c.346G>A	CCDS11755.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341334	0.41498	.	.	ENSG00000089685	ENST00000301633;ENST00000350051	T;T	0.03920	3.76;3.76	5.16	4.19	0.49359	Baculoviral inhibition of apoptosis protein repeat (1);	0.421373	0.24652	N	0.036718	T	0.05227	0.0139	.	.	.	0.80722	D	1	B;P	0.51933	0.34;0.949	B;P	0.46275	0.023;0.51	T	0.54139	-0.8338	9	0.15499	T	0.54	-13.8979	9.7104	0.40243	0.0966:0.0:0.9034:0.0	.	116;139	O15392;O15392-2	BIRC5_HUMAN;.	K	139;116	ENSP00000301633:E139K;ENSP00000324180:E116K	ENSP00000301633:E139K	E	+	1	0	BIRC5	73731147	1.000000	0.71417	0.951000	0.38953	0.978000	0.69477	3.007000	0.49536	1.183000	0.42943	0.563000	0.77884	GAA		0.468	BIRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437231.2		NM_001168		25	43	0	0	0	0.0918	0	25	43		
TPGS2	25941	broad.mit.edu	37	18	34387820	34387820	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr18:34387820C>T	ENST00000334295.4	-	3	670	c.243G>A	c.(241-243)gtG>gtA	p.V81V	TPGS2_ENST00000383056.3_Silent_p.V81V|TPGS2_ENST00000593035.1_Silent_p.V81V|TPGS2_ENST00000587129.1_Silent_p.V81V|TPGS2_ENST00000589049.1_Silent_p.V81V|TPGS2_ENST00000590842.1_Silent_p.V81V	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	81						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.V81V(1)									catccagcttcACACTCCATG	0.453																																						uc002kzw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(241-243)GTG>GTA		tubulin polyglutamylase complex subunit 2							145.0	117.0	127.0					18																	34387820		2203	4300	6503	SO:0001819	synonymous_variant	25941					cytoplasm|microtubule		g.chr18:34387820C>T	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.243G>A	18.37:g.34387820C>T						C18orf10_uc002kzv.1_Silent_p.V81V|C18orf10_uc010xci.1_Silent_p.V81V|C18orf10_uc002kzx.1_Silent_p.V81V|C18orf10_uc002kzy.3_Silent_p.V81V	p.V81V	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN			3	671	-			81					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Silent	SNP	ENST00000334295.4	37	c.243G>A	CCDS32817.1																																																																																				0.453	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2		NM_015476		33	66	0	0	0	0.054565	0	33	66		
CELF4	56853	broad.mit.edu	37	18	34839222	34839222	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr18:34839222C>G	ENST00000591282.1	-	11	1254	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	CELF4_ENST00000601019.1_Missense_Mutation_p.E417Q|CELF4_ENST00000361795.5_Missense_Mutation_p.E417Q|CELF4_ENST00000420428.2_Missense_Mutation_p.E419Q|CELF4_ENST00000603232.1_Missense_Mutation_p.E418Q|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000412753.1_Missense_Mutation_p.E418Q|CELF4_ENST00000591287.1_Missense_Mutation_p.E417Q|CELF4_ENST00000588597.1_Missense_Mutation_p.E407Q			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	419	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.E419Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TTACAGCCCTCGGGCCCTGCG	0.612																																						uc002lae.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1255-1257)GAG>CAG		bruno-like 4, RNA binding protein isoform 1							41.0	37.0	38.0					18																	34839222		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34839222C>G	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1255G>C	18.37:g.34839222C>G	ENSP00000464794:p.Glu419Gln					CELF4_uc010dnd.1_Missense_Mutation_p.E417Q|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Missense_Mutation_p.E413Q|CELF4_uc002lai.2_Missense_Mutation_p.E403Q	p.E419Q	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			11	1651	-			419			RRM 3.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.1255G>C	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	c	29.0	4.971439	0.92919	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428	T	0.61392	0.11	4.79	4.79	0.61399	Nucleotide-binding, alpha-beta plait (1);	0.118143	0.56097	D	0.000030	T	0.62720	0.2451	L	0.33245	0.995	0.80722	D	1	P;P;P;B	0.42078	0.732;0.77;0.636;0.362	P;P;B;B	0.52881	0.712;0.454;0.262;0.219	T	0.67019	-0.5776	10	0.87932	D	0	-5.9087	18.024	0.89263	0.0:1.0:0.0:0.0	.	417;407;417;419	Q9BZC1-3;B4DHA8;Q9BZC1-2;Q9BZC1	.;.;.;CELF4_HUMAN	Q	419;418;417	ENSP00000406823:E418Q	ENSP00000355089:E419Q	E	-	1	0	CELF4	33093220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.595000	0.82710	2.480000	0.83734	0.650000	0.86243	GAG		0.612	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1		NM_020180		9	29	0	0	0	0.069234	0	9	29		
CREB3L3	84699	broad.mit.edu	37	19	4168351	4168351	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:4168351G>A	ENST00000078445.2	+	6	865	c.718G>A	c.(718-720)Gag>Aag	p.E240K	CREB3L3_ENST00000602257.1_Missense_Mutation_p.E238K|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E239K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E180K|CREB3L3_ENST00000602147.1_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	240					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.E240K(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGCAGTACGAGGAGCGAGT	0.542																																						uc002lzl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(718-720)GAG>AAG		cAMP responsive element binding protein 3-like							52.0	52.0	52.0					19																	4168351		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4168351G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.718G>A	19.37:g.4168351G>A	ENSP00000078445:p.Glu240Lys					CREB3L3_uc002lzm.2_Missense_Mutation_p.E230K|CREB3L3_uc010xib.1_Missense_Mutation_p.E229K|CREB3L3_uc010xic.1_Intron	p.E240K	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	6	834	+			240			Cytoplasmic (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.718G>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121494	0.94385	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.89343	-2.5;-2.02	5.06	5.06	0.68205	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95316	0.8480	M	0.89478	3.035	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	D	0.95869	0.8889	10	0.66056	D	0.02	-30.2411	17.3508	0.87323	0.0:0.0:1.0:0.0	.	238;239;240	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	K	240;240;180	ENSP00000078445:E240K;ENSP00000252587:E180K	ENSP00000078445:E240K	E	+	1	0	CREB3L3	4119351	1.000000	0.71417	0.972000	0.41901	0.719000	0.41307	9.337000	0.96545	2.507000	0.84556	0.655000	0.94253	GAG		0.542	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1		NM_032607		13	43	0	0	0	0.020292	0	13	43		
CREB3L3	84699	broad.mit.edu	37	19	4168358	4168358	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:4168358G>A	ENST00000078445.2	+	6	872	c.725G>A	c.(724-726)cGa>cAa	p.R242Q	CREB3L3_ENST00000602257.1_Missense_Mutation_p.R240Q|CREB3L3_ENST00000595923.1_Missense_Mutation_p.R241Q|CREB3L3_ENST00000252587.3_Missense_Mutation_p.R182Q|CREB3L3_ENST00000602147.1_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	242					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.R242Q(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TACGAGGAGCGAGTGCTGAAA	0.547																																						uc002lzl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(724-726)CGA>CAA		cAMP responsive element binding protein 3-like							55.0	54.0	54.0					19																	4168358		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4168358G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.725G>A	19.37:g.4168358G>A	ENSP00000078445:p.Arg242Gln					CREB3L3_uc002lzm.2_Missense_Mutation_p.R232Q|CREB3L3_uc010xib.1_Missense_Mutation_p.R231Q|CREB3L3_uc010xic.1_Intron	p.R242Q	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	6	841	+			242			Cytoplasmic (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.725G>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229825	0.95173	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.83419	-1.72;-1.72	5.06	5.06	0.68205	Basic-leucine zipper (bZIP) transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.89357	0.6692	L	0.58428	1.81	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.81914	0.995;0.841;0.901	D	0.89367	0.3672	10	0.51188	T	0.08	-33.4537	17.3508	0.87323	0.0:0.0:1.0:0.0	.	240;241;242	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	Q	242;242;182	ENSP00000078445:R242Q;ENSP00000252587:R182Q	ENSP00000078445:R242Q	R	+	2	0	CREB3L3	4119358	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.337000	0.96545	2.507000	0.84556	0.655000	0.94253	CGA		0.547	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1		NM_032607		12	46	0	0	0	0.016723	0	12	46		
SEMA6B	10501	broad.mit.edu	37	19	4550273	4550273	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:4550273C>G	ENST00000586582.1	-	12	1443	c.1133G>C	c.(1132-1134)tGc>tCc	p.C378S	SEMA6B_ENST00000301293.3_Missense_Mutation_p.C378S|SEMA6B_ENST00000586965.1_Missense_Mutation_p.C378S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	378	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)	p.C378S(1)		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)		GGGGGCTGCGCAGCACCCGGG	0.602																																						uc010duc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1132-1134)TGC>TCC		semaphorin 6B precursor							44.0	42.0	43.0					19																	4550273		2202	4299	6501	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4550273C>G	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.1133G>C	19.37:g.4550273C>G	ENSP00000467290:p.Cys378Ser					SEMA6B_uc010dud.2_Missense_Mutation_p.C378S|SEMA6B_uc010xih.1_Missense_Mutation_p.C378S	p.C378S	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	1171	-		Hepatocellular(1079;0.137)	378			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1133G>C	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	14.65	2.598501	0.46318	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.25250	1.81	2.6	2.6	0.31112	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	U	0.000000	T	0.62478	0.2431	H	0.96777	3.88	0.58432	D	0.999991	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.76561	-0.2914	10	0.87932	D	0	.	12.9003	0.58121	0.0:1.0:0.0:0.0	.	378;378	B4DT36;Q9H3T3	.;SEM6B_HUMAN	S	378	ENSP00000301293:C378S	ENSP00000301292:C378S	C	-	2	0	SEMA6B	4501273	1.000000	0.71417	0.870000	0.34147	0.163000	0.22366	7.337000	0.79256	1.795000	0.52594	0.478000	0.44815	TGC		0.602	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2		NM_032108		27	76	0	0	0	0.037714	0	27	76		
SH2D3A	10045	broad.mit.edu	37	19	6760801	6760801	+	Silent	SNP	C	C	T	rs143102735		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:6760801C>T	ENST00000245908.6	-	3	536	c.267G>A	c.(265-267)ccG>ccA	p.P89P	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	89	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.P89P(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GAACCAGAGCCGGTATGCTGG	0.632																																						uc002mft.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)	2						c.(265-267)CCG>CCA		SH2 domain containing 3A		C		0,4406		0,0,2203	70.0	67.0	68.0		267	-9.9	0.0	19	dbSNP_134	68	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	SH2D3A	NM_005490.2		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		89/577	6760801	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6760801C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.267G>A	19.37:g.6760801C>T						SH2D3A_uc010xjg.1_Intron	p.P89P	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN			3	461	-			89			SH2.		A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	c.267G>A	CCDS12173.1																																																																																				0.632	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1		NM_005490		32	78	0	0	0	0.092188	0	32	78		
MUC16	94025	broad.mit.edu	37	19	9057196	9057196	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:9057196G>A	ENST00000397910.4	-	3	30453	c.30250C>T	c.(30250-30252)Ctg>Ttg	p.L10084L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10086	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L10084L(1)|p.L5717L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGCAGCCAGTATTTCAACT	0.473																																						uc002mkp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30250-30252)CTG>TTG		mucin 16							104.0	99.0	101.0					19																	9057196		1950	4149	6099	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057196G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30250C>T	19.37:g.9057196G>A							p.L10084L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30454	-			10086			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30250C>T	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		10	41	0	0	0	0.09319	0	10	41		
KMT2B	9757	broad.mit.edu	37	19	36221009	36221009	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:36221009G>A	ENST00000222270.7	+	23	5059	c.5059G>A	c.(5059-5061)Gat>Aat	p.D1687N	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.D1687N	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1687					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D1689N(1)									GAAACACACTGATCTCCTGGA	0.587																																						uc010eei.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(5059-5061)GAT>AAT		myeloid/lymphoid or mixed-lineage leukemia 4							54.0	59.0	57.0					19																	36221009		2075	4212	6287	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36221009G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5059G>A	19.37:g.36221009G>A	ENSP00000222270:p.Asp1687Asn						p.D1687N	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		24	5059	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1687					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5059G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531274	0.27387	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84516	-1.86;-1.86	5.37	5.37	0.77165	.	0.000000	0.47455	D	0.000239	D	0.83686	0.5308	N	0.19112	0.55	0.45822	D	0.998698	D	0.67145	0.996	P	0.60012	0.867	D	0.83724	0.0194	10	0.49607	T	0.09	.	11.4441	0.50112	0.0827:0.0:0.9173:0.0	.	1687	Q9UMN6	MLL4_HUMAN	N	1687	ENSP00000222270:D1687N;ENSP00000398837:D1687N	ENSP00000222270:D1687N	D	+	1	0	AD000671.1	40912849	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	5.430000	0.66501	2.793000	0.96121	0.655000	0.94253	GAT		0.587	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		8	21	0	0	0	0.058154	0	8	21		
ZNF790	388536	broad.mit.edu	37	19	37310567	37310567	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:37310567C>G	ENST00000356725.4	-	5	799	c.679G>C	c.(679-681)Gaa>Caa	p.E227Q	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E227Q(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCTTTACATTCATATGTTTTC	0.348																																						uc002oew.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(679-681)GAA>CAA		zinc finger protein 790							56.0	58.0	57.0					19																	37310567		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310567C>G	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.679G>C	19.37:g.37310567C>G	ENSP00000349161:p.Glu227Gln					uc002oev.1_Intron	p.E227Q	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	798	-	Esophageal squamous(110;0.183)		227			C2H2-type 2.			Missense_Mutation	SNP	ENST00000356725.4	37	c.679G>C	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172072	0.21704	.	.	ENSG00000197863	ENST00000356725	T	0.07444	3.19	3.04	1.94	0.25998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05273	0.0140	N	0.21194	0.64	0.09310	N	1	B	0.25351	0.124	B	0.24701	0.055	T	0.40117	-0.9580	9	0.54805	T	0.06	.	1.7065	0.02883	0.208:0.4428:0.2228:0.1263	.	227	Q6PG37	ZN790_HUMAN	Q	227	ENSP00000349161:E227Q	ENSP00000349161:E227Q	E	-	1	0	ZNF790	42002407	0.000000	0.05858	0.960000	0.40013	0.984000	0.73092	-1.808000	0.01732	0.561000	0.29186	0.491000	0.48974	GAA		0.348	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2		NM_206894		27	53	0	0	0	0.030593	0	27	53		
AP2S1	1175	broad.mit.edu	37	19	47349397	47349397	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:47349397G>A	ENST00000263270.6	-	2	231	c.6C>T	c.(4-6)atC>atT	p.I2I	AP2S1_ENST00000597020.1_5'UTR|AP2S1_ENST00000601498.1_Silent_p.I18I|AP2S1_ENST00000601649.1_Silent_p.I2I|AP2S1_ENST00000352203.4_Silent_p.I2I|AP2S1_ENST00000599990.1_Silent_p.I4I|AP2S1_ENST00000593442.1_Intron	NM_004069.3	NP_004060.2	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1 subunit	2					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|regulation of endocytosis (GO:0030100)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.I2I(1)		central_nervous_system(1)|lung(1)|urinary_tract(1)	3		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		GGATAAAGCGGATCTGGGGGC	0.597																																						uc002pft.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(4-6)ATC>ATT		adaptor-related protein complex 2, sigma 1							73.0	56.0	61.0					19																	47349397		2203	4300	6503	SO:0001819	synonymous_variant	1175				axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity	g.chr19:47349397G>A	AJ010148	CCDS12693.1, CCDS33062.1	19q13.2-q13.3	2014-02-04				ENSG00000042753			565	protein-coding gene	gene with protein product		602242	"""hypocalciuric hypercalcemia 3 (Oklahoma type)"""	CLAPS2, HHC3		9040778, 9767099, 23222959	Standard	XM_005258500		Approved	FBHOk, FBH3	uc002pft.1	P53680		ENST00000263270.6:c.6C>T	19.37:g.47349397G>A						AP2S1_uc002pfu.1_Silent_p.I2I	p.I2I	NM_004069	NP_004060	P53680	AP2S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)	2	186	-		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)	2					B2R4Z4|O75977|Q6PK67	Silent	SNP	ENST00000263270.6	37	c.6C>T	CCDS33062.1																																																																																				0.597	AP2S1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466643.1				18	50	0	0	0	0.055883	0	18	50		
CRX	1406	broad.mit.edu	37	19	48343102	48343102	+	Missense_Mutation	SNP	G	G	A	rs370592248		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:48343102G>A	ENST00000221996.7	+	4	984	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	CRX_ENST00000539067.1_Missense_Mutation_p.A260T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	260					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A260T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GAGCTATGGCGCCTACAGCCC	0.632																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	breast(1)|central_nervous_system(1)	2						c.(778-780)GCC>ACC		cone-rod homeobox protein		G	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	85.0	94.0	91.0		778	-2.8	0.1	19		91	0,8598		0,0,4299	no	missense	CRX	NM_000554.4	58	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	benign	260/300	48343102	4,13000	2203	4299	6502	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48343102G>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.778G>A	19.37:g.48343102G>A	ENSP00000221996:p.Ala260Thr						p.A260T	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	982	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	260					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.778G>A	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056454	0.36277	9.08E-4	0.0	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.91180	-2.8;-2.8	4.01	-2.78	0.05859	.	0.264094	0.36101	N	0.002795	T	0.76392	0.3981	N	0.13098	0.295	0.25780	N	0.98474	B	0.06786	0.001	B	0.04013	0.001	T	0.62497	-0.6842	10	0.23302	T	0.38	-1.7599	7.6328	0.28249	0.1562:0.0:0.6867:0.1571	.	260	O43186	CRX_HUMAN	T	260	ENSP00000221996:A260T;ENSP00000445565:A260T	ENSP00000221996:A260T	A	+	1	0	CRX	53034914	0.319000	0.24607	0.066000	0.19879	0.903000	0.53119	0.427000	0.21379	-0.429000	0.07329	0.467000	0.42956	GCC		0.632	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4		NM_000554		99	236	0	0	0	0.048971	0	99	236		
LRRC4B	94030	broad.mit.edu	37	19	51022595	51022595	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:51022595G>A	ENST00000599957.1	-	3	572	c.375C>T	c.(373-375)atC>atT	p.I125I	LRRC4B_ENST00000389201.3_Silent_p.I125I			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	125					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I125I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGCCCACCTCGATCTTGCGCA	0.622																																						uc002pss.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(373-375)ATC>ATT		leucine rich repeat containing 4B precursor							38.0	41.0	40.0					19																	51022595		2161	4277	6438	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022595G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.375C>T	19.37:g.51022595G>A							p.I125I	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	512	-		all_neural(266;0.131)	125			Extracellular (Potential).|LRR 2.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.375C>T	CCDS42595.1																																																																																				0.622	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1		NM_001080457		16	50	0	0	0	0.028581	0	16	50		
LILRA6	79168	broad.mit.edu	37	19	54745730	54745730	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:54745730G>A	ENST00000396365.2	-	4	419	c.380C>T	c.(379-381)tCa>tTa	p.S127L	LILRA6_ENST00000391735.3_Missense_Mutation_p.S127L|LILRA6_ENST00000245621.5_Missense_Mutation_p.S127L|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.S127L|LILRA6_ENST00000440558.2_Missense_Mutation_p.S127L|LILRA6_ENST00000270464.5_Missense_Mutation_p.S127L	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	127					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.S127L(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCAGGGCTGAGAGGGTGGG	0.562																																						uc002qeu.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)	2						c.(379-381)TCA>TTA		leukocyte immunoglobulin-like receptor,							59.0	97.0	85.0					19																	54745730		2108	4294	6402	SO:0001583	missense	79168					integral to membrane	receptor activity	g.chr19:54745730G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.380C>T	19.37:g.54745730G>A	ENSP00000379651:p.Ser127Leu					LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Missense_Mutation_p.S127L|LILRA6_uc002qek.1_Missense_Mutation_p.S127L|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.S127L|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.S127L|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.S127L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.S127L|LILRA6_uc010yep.1_Missense_Mutation_p.S127L|LILRA6_uc010yeq.1_Missense_Mutation_p.S127L|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_5'UTR	p.S127L	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	504	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		127			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000396365.2	37	c.380C>T	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701432	0.30142	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;3.96;2.53;2.53	3.4	2.34	0.29019	Immunoglobulin-like fold (1);	0.593618	0.14636	N	0.307488	T	0.21718	0.0523	L	0.38692	1.165	0.24479	N	0.994359	P;B;P;P;D;D	0.69078	0.898;0.347;0.94;0.903;0.983;0.997	P;B;P;P;P;D	0.67900	0.594;0.221;0.62;0.586;0.807;0.954	T	0.04153	-1.0973	10	0.59425	D	0.04	.	6.6535	0.22975	0.1391:0.0:0.8609:0.0	.	127;127;127;127;127;127	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	L	127	ENSP00000390120:S127L;ENSP00000270464:S127L;ENSP00000411227:S127L;ENSP00000375615:S127L;ENSP00000379651:S127L;ENSP00000245621:S127L	ENSP00000245621:S127L	S	-	2	0	LILRA6	59437542	0.041000	0.20044	0.515000	0.27774	0.083000	0.17756	1.256000	0.32921	0.782000	0.33613	0.184000	0.17185	TCA		0.562	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1		NM_024318		38	91	0	0	0	0.048971	0	38	91		
ZSCAN5A	79149	broad.mit.edu	37	19	56733572	56733572	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:56733572C>T	ENST00000587340.1	-	7	1558	c.863G>A	c.(862-864)aGa>aAa	p.R288K	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R287K|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R288K|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R171K|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R142K			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	288					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R288K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGCGTCTCCTCTGTTCCCGCT	0.537																																						uc002qmq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(862-864)AGA>AAA		zinc finger and SCAN domain containing 5A							130.0	128.0	129.0					19																	56733572		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733572C>T	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.863G>A	19.37:g.56733572C>T	ENSP00000467631:p.Arg288Lys					ZSCAN5A_uc010ygi.1_Missense_Mutation_p.R171K|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.R288K|ZSCAN5A_uc002qms.1_Missense_Mutation_p.R287K	p.R288K	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN			5	1029	-			288					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.863G>A	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638945	0.29157	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.05925	3.41;3.37	2.04	0.948	0.19561	.	.	.	.	.	T	0.07324	0.0185	M	0.82517	2.595	0.09310	N	1	P;P	0.42039	0.769;0.769	B;B	0.35182	0.197;0.197	T	0.30090	-0.9990	9	0.02654	T	1	.	8.4676	0.32966	0.0:0.7567:0.2433:0.0	.	171;288	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	K	288;171	ENSP00000375593:R288K;ENSP00000254165:R171K	ENSP00000254165:R171K	R	-	2	0	ZSCAN5A	61425384	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.223000	0.17719	0.407000	0.25591	-0.304000	0.09214	AGA		0.537	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1		NM_024303		67	138	0	0	0	0.048971	0	67	138		
KCNS3	3790	broad.mit.edu	37	2	18112633	18112633	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:18112633C>T	ENST00000403915.1	+	3	809	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.R120C	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	120					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.R120C(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAGCAATCGCTACCAGGA	0.507																																						uc002rcv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(358-360)CGC>TGC		potassium voltage-gated channel							109.0	110.0	110.0					2																	18112633		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112633C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.358C>T	2.37:g.18112633C>T	ENSP00000385968:p.Arg120Cys					KCNS3_uc002rcw.2_Missense_Mutation_p.R120C	p.R120C	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	809	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		120			Cytoplasmic (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.358C>T	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704490	0.48412	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	T;T	0.43688	0.94;0.94	5.65	4.72	0.59763	BTB/POZ-like (1);BTB/POZ fold (2);	0.318362	0.34411	N	0.003982	T	0.49949	0.1587	M	0.73962	2.25	0.58432	D	0.999999	D	0.69078	0.997	P	0.47470	0.548	T	0.57341	-0.7828	10	0.72032	D	0.01	.	13.6152	0.62103	0.3152:0.6848:0.0:0.0	.	120	Q9BQ31	KCNS3_HUMAN	C	120	ENSP00000385968:R120C;ENSP00000305824:R120C	ENSP00000305824:R120C	R	+	1	0	KCNS3	17976114	0.995000	0.38212	0.974000	0.42286	0.988000	0.76386	3.032000	0.49736	2.825000	0.97269	0.655000	0.94253	CGC		0.507	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1		NM_002252		40	133	0	0	0	0.092188	0	40	133		
APOB	338	broad.mit.edu	37	2	21239390	21239390	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:21239390C>T	ENST00000233242.1	-	21	3380	c.3253G>A	c.(3253-3255)Gag>Aag	p.E1085K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1085					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E1085K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTTGCCCTCAGTAGATTCA	0.453																																						uc002red.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(3253-3255)GAG>AAG		apolipoprotein B precursor	Atorvastatin(DB01076)						123.0	112.0	116.0					2																	21239390		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21239390C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3253G>A	2.37:g.21239390C>T	ENSP00000233242:p.Glu1085Lys						p.E1085K	NM_000384	NP_000375	P04114	APOB_HUMAN			21	3381	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1085					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3253G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.784927	0.00628	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00662	5.93	5.03	-10.1	0.00402	.	1.271090	0.05243	N	0.512491	T	0.00328	0.0010	N	0.01048	-1.04	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.49835	-0.8897	10	0.02654	T	1	.	13.2749	0.60182	0.0858:0.6513:0.1612:0.1017	.	1085	P04114	APOB_HUMAN	K	1085	ENSP00000233242:E1085K	ENSP00000233242:E1085K	E	-	1	0	APOB	21092895	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.947000	0.00680	-2.079000	0.00871	-1.069000	0.02264	GAG		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				24	59	0	0	0	0.069288	0	24	59		
APOB	338	broad.mit.edu	37	2	21250702	21250702	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:21250702C>T	ENST00000233242.1	-	14	2192	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	APOB_ENST00000399256.4_Missense_Mutation_p.E689K	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	689					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E689K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACTTACCTCGATGAGGTCA	0.433																																						uc002red.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2065-2067)GAG>AAG		apolipoprotein B precursor	Atorvastatin(DB01076)						77.0	83.0	81.0					2																	21250702		2202	4300	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21250702C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2065G>A	2.37:g.21250702C>T	ENSP00000233242:p.Glu689Lys						p.E689K	NM_000384	NP_000375	P04114	APOB_HUMAN			14	2193	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		689					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2065G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918733	0.92249	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.38887	1.11;1.11	5.73	5.73	0.89815	Vitellinogen, open beta-sheet, subdomain 1 (1);Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	0.000000	0.85682	D	0.000000	T	0.69260	0.3091	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72232	-0.4353	10	0.87932	D	0	.	18.4609	0.90737	0.0:1.0:0.0:0.0	.	689	P04114	APOB_HUMAN	K	689	ENSP00000233242:E689K;ENSP00000382200:E689K	ENSP00000233242:E689K	E	-	1	0	APOB	21104207	1.000000	0.71417	0.984000	0.44739	0.598000	0.36846	6.315000	0.72853	2.876000	0.98609	0.655000	0.94253	GAG		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				18	54	0	0	0	0.049695	0	18	54		
TP53I3	9540	broad.mit.edu	37	2	24305998	24305998	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:24305998G>A	ENST00000238721.4	-	2	1017	c.163C>T	c.(163-165)Cca>Tca	p.P55S	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.P55S|TP53I3_ENST00000313482.4_Missense_Mutation_p.P55S|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000335934.4_Missense_Mutation_p.P55S	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	55					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.P55S(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCTCCTGGAGGTGGGTCA	0.562																																						uc002rey.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(163-165)CCA>TCA		tumor protein p53 inducible protein 3							91.0	96.0	95.0					2																	24305998		2203	4300	6503	SO:0001583	missense	9540				induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	g.chr2:24305998G>A	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.163C>T	2.37:g.24305998G>A	ENSP00000238721:p.Pro55Ser					LOC375190_uc002rew.2_Intron|TP53I3_uc002rex.1_Missense_Mutation_p.P55S|TP53I3_uc002rez.1_Missense_Mutation_p.P55S|TP53I3_uc010ykk.1_Silent_p.L4L	p.P55S	NM_147184	NP_671713	Q53FA7	QORX_HUMAN			3	223	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		55					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	ENST00000238721.4	37	c.163C>T	CCDS1708.1	.	.	.	.	.	.	.	.	.	.	G	9.095	1.002606	0.19121	.	.	ENSG00000115129	ENST00000335934;ENST00000238721;ENST00000313482;ENST00000407482;ENST00000413037	T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63	4.97	0.864	0.19068	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.667368	0.15363	N	0.266272	T	0.07007	0.0178	M	0.73753	2.245	0.27438	N	0.953796	B;B	0.20988	0.003;0.05	B;B	0.25140	0.007;0.058	T	0.20174	-1.0283	10	0.72032	D	0.01	-8.9568	4.3707	0.11246	0.0824:0.113:0.4814:0.3232	.	55;55	Q53FA7;Q53FA7-2	QORX_HUMAN;.	S	55;55;55;55;50	ENSP00000337834:P55S;ENSP00000238721:P55S;ENSP00000322298:P55S;ENSP00000384414:P55S;ENSP00000389620:P50S	ENSP00000238721:P55S	P	-	1	0	TP53I3	24159502	0.712000	0.27916	0.929000	0.37066	0.147000	0.21601	0.912000	0.28597	0.622000	0.30249	-0.824000	0.03097	CCA		0.562	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2		NM_004881		60	145	0	0	0	0.048971	0	60	145		
AFTPH	54812	broad.mit.edu	37	2	64779737	64779737	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:64779737G>C	ENST00000422803.1	+	2	1443	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	AFTPH_ENST00000409933.1_Missense_Mutation_p.D377H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D377H|AFTPH_ENST00000409183.1_Missense_Mutation_p.D8H|AFTPH_ENST00000238856.4_Missense_Mutation_p.D377H			Q6ULP2	AFTIN_HUMAN	aftiphilin	377					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.D377H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TAAAACTTCTGATGATGAAGT	0.348																																						uc002sdc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(1129-1131)GAT>CAT		aftiphilin protein isoform a							71.0	74.0	73.0					2																	64779737		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779737G>C	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1129G>C	2.37:g.64779737G>C	ENSP00000397726:p.Asp377His					AFTPH_uc002scz.2_Missense_Mutation_p.D377H|AFTPH_uc002sda.2_Missense_Mutation_p.D377H|AFTPH_uc002sdb.2_Missense_Mutation_p.D377H	p.D377H	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			1	1161	+			377					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1129G>C		.	.	.	.	.	.	.	.	.	.	G	15.18	2.755920	0.49362	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.76	5.76	0.90799	.	0.277119	0.31624	N	0.007334	T	0.50205	0.1602	L	0.57536	1.79	0.33008	D	0.527121	P;P;D;D	0.61080	0.91;0.91;0.989;0.989	P;P;D;D	0.63192	0.717;0.717;0.912;0.912	T	0.53961	-0.8364	10	0.35671	T	0.21	0.1413	17.8322	0.88686	0.0:0.0:1.0:0.0	.	377;377;377;377	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	H	377;377;377;377;8	ENSP00000238856:D377H;ENSP00000397726:D377H;ENSP00000238855:D377H;ENSP00000387071:D377H;ENSP00000386913:D8H	ENSP00000238855:D377H	D	+	1	0	AFTPH	64633241	0.995000	0.38212	0.860000	0.33809	0.972000	0.66771	3.137000	0.50562	2.880000	0.98712	0.650000	0.86243	GAT		0.348	AFTPH-202	KNOWN	basic	protein_coding	protein_coding			NM_017657		30	78	0	0	0	0.037714	0	30	78		
VWA3B	200403	broad.mit.edu	37	2	98737802	98737802	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:98737802C>T	ENST00000477737.1	+	5	787	c.583C>T	c.(583-585)Cct>Tct	p.P195S	VWA3B_ENST00000451075.2_Missense_Mutation_p.P45S|VWA3B_ENST00000435344.1_Missense_Mutation_p.P195S	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	195								p.P195S(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAATGCTACTCCTGTGACCGA	0.537																																						uc002syo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(583-585)CCT>TCT		von Willebrand factor A domain containing 3B							75.0	81.0	79.0					2																	98737802		1990	4179	6169	SO:0001583	missense	200403							g.chr2:98737802C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.583C>T	2.37:g.98737802C>T	ENSP00000417955:p.Pro195Ser					VWA3B_uc010yvh.1_Missense_Mutation_p.P45S|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.P195S|VWA3B_uc002syn.1_RNA	p.P195S	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			5	847	+			195					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.583C>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526624	0.27299	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.13901	3.24;3.24;2.55	5.48	3.56	0.40772	.	0.276731	0.31772	N	0.007097	T	0.18173	0.0436	M	0.63843	1.955	0.09310	N	0.999999	B;P;B	0.38420	0.136;0.63;0.25	B;B;B	0.42495	0.033;0.389;0.109	T	0.06127	-1.0844	10	0.39692	T	0.17	.	10.5427	0.45041	0.1321:0.7935:0.0:0.0744	.	45;195;195	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	S	195;195;45	ENSP00000401959:P195S;ENSP00000417955:P195S;ENSP00000389463:P45S	ENSP00000411168:P195S	P	+	1	0	VWA3B	98104234	0.000000	0.05858	0.487000	0.27428	0.688000	0.40055	0.169000	0.16641	1.435000	0.47434	0.655000	0.94253	CCT		0.537	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2		NM_144992		15	44	0	0	0	0.038395	0	15	44		
MERTK	10461	broad.mit.edu	37	2	112766049	112766049	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:112766049C>G	ENST00000295408.4	+	14	2214	c.1957C>G	c.(1957-1959)Cta>Gta	p.L653V	MERTK_ENST00000421804.2_Missense_Mutation_p.L653V|MERTK_ENST00000409780.1_Missense_Mutation_p.L477V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	653	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L653V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATTCGACTTCTAGGTACTTC	0.488																																						uc002thk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1957-1959)CTA>GTA		MER receptor tyrosine kinase precursor							89.0	81.0	83.0					2																	112766049		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112766049C>G	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1957C>G	2.37:g.112766049C>G	ENSP00000295408:p.Leu653Val					MERTK_uc002thl.1_Missense_Mutation_p.L477V	p.L653V	NM_006343	NP_006334	Q12866	MERTK_HUMAN			14	2079	+			653			Protein kinase.|Cytoplasmic (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1957C>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528772	0.44969	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	T;T;T	0.64260	-0.09;-0.09;-0.09	5.96	4.16	0.48862	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.26048	U	0.026643	T	0.70176	0.3194	L	0.45470	1.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.66364	-0.5942	10	0.25751	T	0.34	-9.0911	11.9333	0.52860	0.0:0.8552:0.0:0.1448	.	653	Q12866	MERTK_HUMAN	V	653;653;295;477	ENSP00000295408:L653V;ENSP00000389152:L653V;ENSP00000387277:L477V	ENSP00000295408:L653V	L	+	1	2	MERTK	112482520	0.563000	0.26594	0.997000	0.53966	0.926000	0.56050	1.101000	0.31037	1.533000	0.49186	0.579000	0.79373	CTA		0.488	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2				25	52	0	0	0	0.0918	0	25	52		
GALNT5	11227	broad.mit.edu	37	2	158165235	158165235	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:158165235G>C	ENST00000259056.4	+	9	3162	c.2677G>C	c.(2677-2679)Gaa>Caa	p.E893Q		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	893	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E893Q(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTTTCATCCAGAACTGGTAAG	0.408																																						uc002tzg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|skin(1)	4						c.(2677-2679)GAA>CAA		N-acetylgalactosaminyltransferase 5							91.0	85.0	87.0					2																	158165235		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158165235G>C	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2677G>C	2.37:g.158165235G>C	ENSP00000259056:p.Glu893Gln					GALNT5_uc010zci.1_RNA	p.E893Q	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			9	2932	+			893			Lumenal (Potential).|Ricin B-type lectin.		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.2677G>C	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652781	0.67472	.	.	ENSG00000136542	ENST00000259056	T	0.58506	0.33	5.81	4.9	0.64082	Ricin B-related lectin (1);Ricin B lectin (3);	0.551642	0.16452	N	0.213810	T	0.57577	0.2063	M	0.65975	2.015	0.33573	D	0.598868	P	0.46784	0.884	P	0.44860	0.462	T	0.69168	-0.5216	10	0.46703	T	0.11	.	8.2328	0.31608	0.0833:0.0:0.7632:0.1536	.	893	Q7Z7M9	GALT5_HUMAN	Q	893	ENSP00000259056:E893Q	ENSP00000259056:E893Q	E	+	1	0	GALNT5	157873481	0.998000	0.40836	0.998000	0.56505	0.894000	0.52154	3.205000	0.51090	1.375000	0.46248	0.655000	0.94253	GAA		0.408	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2		NM_014568		22	52	0	0	0	0.069288	0	22	52		
UPP2	151531	broad.mit.edu	37	2	158980394	158980394	+	Silent	SNP	C	C	G	rs575541385	byFrequency	TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:158980394C>G	ENST00000005756.4	+	6	992	c.798C>G	c.(796-798)ctC>ctG	p.L266L	UPP2_ENST00000605860.1_Silent_p.L323L|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Silent_p.L323L	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	266					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)	p.L266L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	TGTGTGGACTCTGTGGTCTAA	0.388																																						uc002tzp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(796-798)CTC>CTG		uridine phosphorylase 2 isoform a							138.0	129.0	132.0					2																	158980394		2203	4300	6503	SO:0001819	synonymous_variant	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158980394C>G	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.798C>G	2.37:g.158980394C>G						UPP2_uc002tzo.2_Silent_p.L323L	p.L266L	NM_173355	NP_775491	O95045	UPP2_HUMAN			6	992	+			266					B3KV87	Silent	SNP	ENST00000005756.4	37	c.798C>G	CCDS2207.1																																																																																				0.388	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2		NM_173355		36	102	0	0	0	0.09836	0	36	102		
INPP1	3628	broad.mit.edu	37	2	191227381	191227381	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:191227381G>A	ENST00000322522.4	+	3	689	c.233G>A	c.(232-234)gGa>gAa	p.G78E	INPP1_ENST00000417336.1_Intron|INPP1_ENST00000392329.2_Missense_Mutation_p.G78E|INPP1_ENST00000541441.1_Missense_Mutation_p.G78E	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	78					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)	p.G78E(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			AATATTTTTGGAGAAGAATCC	0.303																																					Melanoma(130;184 1743 2185 19805 38428)	uc002ury.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(232-234)GGA>GAA		inositol polyphosphate-1-phosphatase	Lithium(DB01356)						55.0	63.0	60.0					2																	191227381		2202	4292	6494	SO:0001583	missense	3628				signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	g.chr2:191227381G>A		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.233G>A	2.37:g.191227381G>A	ENSP00000325423:p.Gly78Glu					INPP1_uc010fsb.2_Missense_Mutation_p.G78E|INPP1_uc002urx.3_Missense_Mutation_p.G78E	p.G78E	NM_001128928	NP_001122400	P49441	INPP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		4	933	+			78						Missense_Mutation	SNP	ENST00000322522.4	37	c.233G>A	CCDS2305.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910486	0.92107	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441;ENST00000413239;ENST00000431594;ENST00000444194;ENST00000458647;ENST00000423767;ENST00000409027	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67910	-0.5548	10	0.87932	D	0	-24.8776	17.7102	0.88319	0.0:0.0:1.0:0.0	.	78	P49441	INPP_HUMAN	E	78	ENSP00000376142:G78E;ENSP00000325423:G78E;ENSP00000440650:G78E;ENSP00000409786:G78E;ENSP00000404732:G78E;ENSP00000392814:G78E;ENSP00000395424:G78E;ENSP00000387079:G78E	ENSP00000325423:G78E	G	+	2	0	INPP1	190935626	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.522000	0.81844	2.787000	0.95880	0.585000	0.79938	GGA		0.303	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2				22	73	0	0	0	0.030593	0	22	73		
MOGAT1	116255	broad.mit.edu	37	2	223553091	223553091	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:223553091G>T	ENST00000446656.3	+	2	123	c.123G>T	c.(121-123)atG>atT	p.M41I		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	41					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.M41I(1)|p.M40I(1)		breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TCACTGTGATGCTGATCATAC	0.473																																					Ovarian(93;205 1446 2385 11581 25911)	uc010fws.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)	1						c.(121-123)ATG>ATT		monoacylglycerol O-acyltransferase 1							147.0	130.0	136.0					2																	223553091		1941	4154	6095	SO:0001583	missense	116255				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr2:223553091G>T	AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"""diacylglycerol O-acyltransferase 2 like 1"""	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.123G>T	2.37:g.223553091G>T	ENSP00000406674:p.Met41Ile					MOGAT1_uc010fwt.1_Missense_Mutation_p.M1I	p.M41I	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)	2	171	+		Renal(207;0.0183)	41			Helical; (Potential).		Q6IEE5	Missense_Mutation	SNP	ENST00000446656.3	37	c.123G>T	CCDS46524.1	.	.	.	.	.	.	.	.	.	.	G	7.325	0.617732	0.14129	.	.	ENSG00000124003	ENST00000446656	T	0.13089	2.62	5.01	-8.45	0.00946	.	0.902290	0.09591	N	0.781550	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.34625	-0.9821	10	0.28530	T	0.3	0.1758	2.4467	0.04508	0.1642:0.4372:0.1896:0.2089	.	41	Q96PD6	MOGT1_HUMAN	I	41	ENSP00000406674:M41I	ENSP00000406674:M41I	M	+	3	0	MOGAT1	223261335	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.932000	0.03963	-1.291000	0.02368	-0.150000	0.13652	ATG		0.473	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331010.3		NM_058165		5	12	1	0	5.9392e-07	0.021553	6.03819e-07	5	12		
SLC16A14	151473	broad.mit.edu	37	2	230902218	230902218	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:230902218C>T	ENST00000295190.4	-	5	1869	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	471						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.D471N(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AAGGAAAAATCATATTTTTGC	0.333																																						uc002vqd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)	6						c.(1411-1413)GAT>AAT		solute carrier family 16 (monocarboxylic acid							97.0	95.0	96.0					2																	230902218		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230902218C>T	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1411G>A	2.37:g.230902218C>T	ENSP00000295190:p.Asp471Asn					FBXO36_uc010fxi.1_Intron	p.D471N	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	5	1774	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	471			Cytoplasmic (Potential).		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.1411G>A	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471102	0.84533	.	.	ENSG00000163053	ENST00000295190	T	0.80480	-1.38	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000006	D	0.84156	0.5410	L	0.28504	0.86	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	T	0.79829	-0.1638	10	0.21014	T	0.42	.	19.3596	0.94431	0.0:1.0:0.0:0.0	.	471	Q7RTX9	MOT14_HUMAN	N	471	ENSP00000295190:D471N	ENSP00000295190:D471N	D	-	1	0	SLC16A14	230610462	1.000000	0.71417	0.954000	0.39281	0.995000	0.86356	5.938000	0.70170	2.818000	0.97014	0.655000	0.94253	GAT		0.333	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2		NM_152527		32	42	0	0	0	0.050027	0	32	42		
UGT1A3	54659	broad.mit.edu	37	2	234638460	234638460	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:234638460C>A	ENST00000482026.1	+	1	707	c.688C>A	c.(688-690)Cct>Act	p.P230T	UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.P230T|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	230					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)	p.P230T(1)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	TTTTTCTGCTCCTTATGCAAG	0.468																																						uc002vuy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(688-690)CCT>ACT		UDP glycosyltransferase 1 family, polypeptide A3							251.0	241.0	244.0					2																	234638460		2203	4300	6503	SO:0001583	missense	54659				flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234638460C>A	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.688C>A	2.37:g.234638460C>A	ENSP00000418532:p.Pro230Thr					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.P230T	p.P230T	NM_019093	NP_061966	P35503	UD13_HUMAN		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	688	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)	230					B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.688C>A	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	c	8.823	0.938047	0.18206	.	.	ENSG00000243135	ENST00000482026	T	0.59224	0.28	4.0	2.14	0.27477	.	.	.	.	.	T	0.46658	0.1404	N	0.17474	0.49	0.09310	N	1	B;B	0.31026	0.304;0.304	P;P	0.45474	0.482;0.482	T	0.47535	-0.9110	9	0.30854	T	0.27	.	4.272	0.10791	0.1611:0.5957:0.156:0.0871	.	230;230	Q5DT01;P35503	.;UD13_HUMAN	T	230	ENSP00000418532:P230T	ENSP00000418532:P230T	P	+	1	0	UGT1A3	234303199	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.356000	0.20181	0.181000	0.19994	-0.552000	0.04208	CCT		0.468	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1		NM_019093		86	263	1	0	2.05912e-35	0.048971	2.26318e-35	86	263		
SH3BP4	23677	broad.mit.edu	37	2	235962412	235962412	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:235962412G>A	ENST00000409212.1	+	6	3351	c.2844G>A	c.(2842-2844)ctG>ctA	p.L948L	SH3BP4_ENST00000344528.4_Silent_p.L948L|SH3BP4_ENST00000392011.2_Silent_p.L948L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	948					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.L948L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACGTTCTGAGAGCAGCCG	0.597																																						uc002vvp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(2842-2844)CTG>CTA		SH3-domain binding protein 4							142.0	138.0	140.0					2																	235962412		2203	4300	6503	SO:0001819	synonymous_variant	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235962412G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2844G>A	2.37:g.235962412G>A						SH3BP4_uc010fym.2_Silent_p.L930L|SH3BP4_uc002vvq.2_Silent_p.L948L	p.L948L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	6	3237	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	948					O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	c.2844G>A	CCDS2513.1																																																																																				0.597	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1				75	176	0	0	0	0.048971	0	75	176		
RIN2	54453	broad.mit.edu	37	20	19955572	19955572	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:19955572G>T	ENST00000255006.6	+	8	1199	c.1050G>T	c.(1048-1050)acG>acT	p.T350T	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	301					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.T301T(1)|p.T350T(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CGAATGGCACGGAGCGGACTC	0.607																																						uc002wro.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(4)|ovary(1)	5						c.(901-903)ACG>ACT		Ras and Rab interactor 2							48.0	50.0	49.0					20																	19955572		1877	4096	5973	SO:0001819	synonymous_variant	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19955572G>T	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1050G>T	20.37:g.19955572G>T						RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Silent_p.T95T	p.T301T	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			7	939	+			301					Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	c.903G>T	CCDS56182.1																																																																																				0.607	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1				9	31	1	0	9.70103e-10	0.069234	1.00299e-09	9	31		
BPIFB4	149954	broad.mit.edu	37	20	31699226	31699226	+	Silent	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:31699226T>C	ENST00000375483.3	+	16	1828	c.1828T>C	c.(1828-1830)Ttg>Ctg	p.L610L	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	610						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L571L(1)									CAAGGACCTTTTGGTGCTGAG	0.587																																						uc010zue.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1828-1830)TTG>CTG		antimicrobial peptide RY2G5 precursor							69.0	61.0	63.0					20																	31699226		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31699226T>C	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1828T>C	20.37:g.31699226T>C							p.L610L	NM_182519	NP_872325	P59827	LPLC4_HUMAN			16	1843	+			610					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.1828T>C	CCDS13213.2																																																																																				0.587	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5		NM_182519		22	47	0	0	0	0.076483	0	22	47		
RBM12	10137	broad.mit.edu	37	20	34242690	34242690	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:34242690G>T	ENST00000374114.3	-	3	818	c.555C>A	c.(553-555)gtC>gtA	p.V185V	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_5'Flank|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.V185V|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Silent_p.V185V|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	185	Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V185V(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GTGGCGGCGGGACTGTGTTCA	0.547																																						uc002xdq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(553-555)GTC>GTA		RNA binding motif protein 12							118.0	99.0	105.0					20																	34242690		2203	4300	6503	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242690G>T	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.555C>A	20.37:g.34242690G>T						CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.V185V|RBM12_uc002xds.2_Silent_p.V185V	p.V185V	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	787	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		185			Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.555C>A	CCDS13261.1																																																																																				0.547	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1		NM_006047		14	41	1	0	1.15088e-07	0.028581	1.17495e-07	14	41		
ADA	100	broad.mit.edu	37	20	43255222	43255222	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:43255222G>A	ENST00000372874.4	-	4	371	c.237C>T	c.(235-237)atC>atT	p.I79I	ADA_ENST00000464097.1_5'Flank|ADA_ENST00000537820.1_Silent_p.I79I	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	79					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)	p.I79I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CGATCCTTTTGATAGCCTCCC	0.567									Adenosine Deaminase Deficiency																													uc002xmj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(2)|ovary(1)	3						c.(235-237)ATC>ATT		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)						127.0	95.0	106.0					20																	43255222		2203	4300	6503	SO:0001819	synonymous_variant	100	Adenosine_Deaminase_Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43255222G>A	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.237C>T	20.37:g.43255222G>A						ADA_uc010ggt.2_RNA	p.I79I	NM_000022	NP_000013	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	365	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	79					Q53F92|Q6LA59	Silent	SNP	ENST00000372874.4	37	c.237C>T	CCDS13335.1																																																																																				0.567	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2		NM_000022		29	79	0	0	0	0.059317	0	29	79		
ZNF335	63925	broad.mit.edu	37	20	44589147	44589147	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:44589147C>G	ENST00000322927.2	-	13	1900	c.1800G>C	c.(1798-1800)aaG>aaC	p.K600N	ZNF335_ENST00000426788.1_Missense_Mutation_p.K445N	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	600					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.K600N(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGTAGCGCTTCTTAAAGGACT	0.622																																						uc002xqw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(1798-1800)AAG>AAC		zinc finger protein 335							100.0	90.0	93.0					20																	44589147		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44589147C>G	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1800G>C	20.37:g.44589147C>G	ENSP00000325326:p.Lys600Asn					ZNF335_uc010zxk.1_Missense_Mutation_p.K445N	p.K600N	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			13	1923	-		Myeloproliferative disorder(115;0.0122)	600			C2H2-type 6.		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.1800G>C	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848759	0.71603	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.20738	2.05;2.05	5.24	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	L	0.38175	1.15	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.02789	-1.1110	10	0.41790	T	0.15	-32.569	9.2654	0.37639	0.0:0.8378:0.0:0.1622	.	445;600	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	N	600;377;445	ENSP00000325326:K600N;ENSP00000397098:K445N	ENSP00000243961:K377N	K	-	3	2	ZNF335	44022554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.676000	0.54612	1.443000	0.47586	0.557000	0.71058	AAG		0.622	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1		NM_022095		47	113	0	0	0	0.048971	0	47	113		
ZBTB21	49854	broad.mit.edu	37	21	43413917	43413917	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr21:43413917C>T	ENST00000310826.5	-	3	471	c.288G>A	c.(286-288)aaG>aaA	p.K96K	ZBTB21_ENST00000398505.3_Silent_p.K96K|ZBTB21_ENST00000398499.1_Silent_p.K96K|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Silent_p.K96K	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	96	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Mediates homodimerization.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.K96K(1)									CAAGGCTGCTCTTCTCAACAA	0.398																																						uc002zab.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(286-288)AAG>AAA		zinc finger protein 295 isoform L							49.0	47.0	48.0					21																	43413917		2203	4300	6503	SO:0001819	synonymous_variant	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43413917C>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.288G>A	21.37:g.43413917C>T						ZNF295_uc002yzz.3_Silent_p.K96K|ZNF295_uc002yzy.3_Silent_p.K96K|ZNF295_uc002zaa.3_Silent_p.K96K|ZNF295_uc010gov.1_Silent_p.K96K|ZNF295_uc002zac.2_Silent_p.K96K	p.K96K	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	502	-			96			Mediates homodimerization.|BTB.		Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	ENST00000310826.5	37	c.288G>A	CCDS13678.1																																																																																				0.398	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1		NM_020727		16	38	0	0	0	0.028581	0	16	38		
RIMBP3	85376	broad.mit.edu	37	22	20457929	20457929	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:20457929C>T	ENST00000426804.1	-	1	3857	c.3373G>A	c.(3373-3375)Ggt>Agt	p.G1125S	RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1125	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.G1125S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ACAGCATAACCGGTGACCTGG	0.592																																						uc002zsd.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3373-3375)GGT>AGT		RIMS binding protein 3							9.0	12.0	11.0					22																	20457929		1575	3505	5080	SO:0001583	missense	85376							g.chr22:20457929C>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3373G>A	22.37:g.20457929C>T	ENSP00000391564:p.Gly1125Ser						p.G1125S	NM_015672	NP_056487			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3858	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.3373G>A	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742339	0.69418	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.59502	0.26	3.42	2.38	0.29361	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.69358	2.11	0.45025	D	0.998044	D	0.89917	1.0	D	0.97110	1.0	T	0.66131	-0.6000	10	0.56958	D	0.05	-16.6644	5.6852	0.17799	0.0:0.7436:0.0:0.2564	.	1031	Q9UFD9	RIM3A_HUMAN	S	1031;1125	ENSP00000391564:G1125S	ENSP00000347318:G1031S	G	-	1	0	RIMBP3	18837929	1.000000	0.71417	0.534000	0.28014	0.869000	0.49853	7.191000	0.77763	0.775000	0.33450	0.184000	0.17185	GGT		0.592	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2		NM_015672		4	28	0	0	0	0.02938	0	4	28		
MED15	51586	broad.mit.edu	37	22	20939289	20939289	+	Missense_Mutation	SNP	G	G	A	rs147995933		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:20939289G>A	ENST00000263205.7	+	15	2020	c.1951G>A	c.(1951-1953)Ggc>Agc	p.G651S	MED15_ENST00000425759.2_Missense_Mutation_p.G500S|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.G540S|MED15_ENST00000292733.7_Missense_Mutation_p.G611S|MED15_ENST00000406969.1_Missense_Mutation_p.G585S|MED15_ENST00000541476.1_Missense_Mutation_p.G585S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	651					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.G611S(1)|p.G651S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGCCATTCACGGCCCACCCAT	0.657																																						uc002zsp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(1951-1953)GGC>AGC		mediator complex subunit 15 isoform a		G	SER/GLY,SER/GLY	2,4404	4.2+/-10.8	0,2,2201	130.0	124.0	126.0		1951,1831	5.0	1.0	22	dbSNP_134	126	0,8600		0,0,4300	no	missense,missense	MED15	NM_001003891.1,NM_015889.3	56,56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	651/789,611/749	20939289	2,13004	2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939289G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1951G>A	22.37:g.20939289G>A	ENSP00000263205:p.Gly651Ser					MED15_uc002zsq.2_Missense_Mutation_p.G611S|MED15_uc010gso.2_Missense_Mutation_p.G594S|MED15_uc002zsr.2_Missense_Mutation_p.G585S|MED15_uc011ahs.1_Missense_Mutation_p.G585S|MED15_uc002zss.2_Missense_Mutation_p.G530S|MED15_uc011ahu.1_Missense_Mutation_p.G361S|MED15_uc002zst.2_Missense_Mutation_p.G267S|MED15_uc002zsu.2_Missense_Mutation_p.G256S	p.G651S	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		15	2031	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	651					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1951G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234498	0.95207	4.54E-4	0.0	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.04	5.04	0.67666	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.984;1.0;0.998;1.0	D;D;P;D;P;D	0.97110	1.0;0.999;0.583;0.999;0.867;0.999	T	0.83231	-0.0063	9	0.87932	D	0	.	15.8666	0.79069	0.0:0.0:1.0:0.0	.	581;630;267;585;611;651	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	S	500;611;651;585;540;585;581	.	ENSP00000263205:G651S	G	+	1	0	MED15	19269289	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	9.316000	0.96319	2.355000	0.79922	0.561000	0.74099	GGC		0.657	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2		NM_015889		20	106	0	0	0	0.036044	0	20	106		
CRYBB1	1414	broad.mit.edu	37	22	27008146	27008146	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:27008146G>T	ENST00000215939.2	-	3	319	c.189C>A	c.(187-189)gtC>gtA	p.V63V		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	63	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.V63V(2)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CCAGTTCGAAGACCACCAGCT	0.532																																						uc003acy.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(187-189)GTC>GTA		crystallin, beta B1							54.0	49.0	50.0					22																	27008146		2203	4300	6503	SO:0001819	synonymous_variant	1414				visual perception		structural constituent of eye lens	g.chr22:27008146G>T		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.189C>A	22.37:g.27008146G>T							p.V63V	NM_001887	NP_001878	P53674	CRBB1_HUMAN			3	259	-			63			Beta/gamma crystallin 'Greek key' 1.			Silent	SNP	ENST00000215939.2	37	c.189C>A	CCDS13840.1																																																																																				0.532	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1		NM_001887		23	93	1	0	7.87624e-14	0.076483	8.35567e-14	23	93		
MICALL1	85377	broad.mit.edu	37	22	38327931	38327931	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:38327931C>T	ENST00000215957.6	+	10	2133	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	669	RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.I669I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TTCCACTCATCAAACGCAAGG	0.642																																						uc003aui.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)	1						c.(2005-2007)ATC>ATT		molecule interacting with Rab13							65.0	68.0	67.0					22																	38327931		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38327931C>T	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2007C>T	22.37:g.38327931C>T							p.I669I	NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN			10	2091	+	Melanoma(58;0.045)		669					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.2007C>T	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	9.271	1.045669	0.19748	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.358	0.32342	0.2642:0.6623:0.0:0.0735	.	.	.	.	X	245	.	.	Q	+	1	0	MICALL1	36657877	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	2.364000	0.44187	2.616000	0.88540	0.591000	0.81541	CAA		0.642	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4		NM_033386		31	65	0	0	0	0.074837	0	31	65		
MICALL1	85377	broad.mit.edu	37	22	38328839	38328839	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:38328839C>T	ENST00000215957.6	+	12	2304	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	726	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.F726F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TGGACTGGTTCAAGCTCATCC	0.617																																						uc003aui.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)	1						c.(2176-2178)TTC>TTT		molecule interacting with Rab13							87.0	74.0	78.0					22																	38328839		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38328839C>T	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2178C>T	22.37:g.38328839C>T							p.F726F	NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN			12	2262	+	Melanoma(58;0.045)		726					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.2178C>T	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783416	0.31593	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3603	0.60652	0.0:0.9237:0.0:0.0763	.	.	.	.	X	302	.	.	Q	+	1	0	MICALL1	36658785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.063000	0.57499	2.560000	0.86352	0.591000	0.81541	CAA		0.617	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4		NM_033386		11	59	0	0	0	0.09319	0	11	59		
GTSE1	51512	broad.mit.edu	37	22	46722532	46722532	+	Missense_Mutation	SNP	C	C	T	rs528775411		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:46722532C>T	ENST00000454366.1	+	9	1917	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	550					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.R569C(1)|p.R550C(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCTGAGCCCCGCAAGAACTC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17200	0.0		0.0	False		,,,				2504	0.0				GBM(153;542 1915 12487 29016 50495)	uc011aqy.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1705-1707)CGC>TGC		G-2 and S-phase expressed 1							51.0	47.0	49.0					22																	46722532		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46722532C>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1705C>T	22.37:g.46722532C>T	ENSP00000415430:p.Arg569Cys					GTSE1_uc011aqz.1_Missense_Mutation_p.R416C|GTSE1_uc003bhl.1_Missense_Mutation_p.R194C|GTSE1_uc003bhm.1_Missense_Mutation_p.R194C|GTSE1_uc003bhn.2_5'Flank	p.R569C	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	9	1917	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	550					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.1705C>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416155	0.25552	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08282	3.11	4.5	2.13	0.27403	.	1.151830	0.06334	N	0.706725	T	0.19167	0.0460	L	0.56769	1.78	0.26377	N	0.976791	D;D	0.76494	0.999;0.999	P;D	0.63113	0.83;0.911	T	0.18999	-1.0319	10	0.59425	D	0.04	-7.0649	2.4406	0.04493	0.2075:0.5021:0.1846:0.1058	.	550;529	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	C	569;529	ENSP00000415430:R569C	ENSP00000354634:R529C	R	+	1	0	GTSE1	45101196	0.007000	0.16637	0.681000	0.30009	0.060000	0.15804	0.172000	0.16704	1.141000	0.42275	0.491000	0.48974	CGC		0.562	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2		NM_016426		11	62	0	0	0	0.049695	0	11	62		
LRRN1	57633	broad.mit.edu	37	3	3887565	3887565	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:3887565T>A	ENST00000319331.3	+	2	2001	c.1240T>A	c.(1240-1242)Tta>Ata	p.L414I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	414	LRRCT.					integral component of membrane (GO:0016021)		p.L414I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GAAGGAAGTTTTAATCCAGGA	0.488																																						uc003bpt.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1240-1242)TTA>ATA		leucine rich repeat neuronal 1 precursor							96.0	98.0	97.0					3																	3887565		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3887565T>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1240T>A	3.37:g.3887565T>A	ENSP00000314901:p.Leu414Ile					SUMF1_uc003bps.1_Intron	p.L414I	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2001	+			414			LRRCT.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1240T>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	T	6.660	0.490378	0.12702	.	.	ENSG00000175928	ENST00000319331	T	0.57752	0.38	5.65	-3.34	0.04943	Cysteine-rich flanking region, C-terminal (1);	0.506681	0.20496	N	0.091197	T	0.35856	0.0946	L	0.34521	1.04	0.09310	N	1	B	0.28233	0.204	B	0.24701	0.055	T	0.11991	-1.0565	10	0.27785	T	0.31	.	13.6424	0.62260	0.0:0.4934:0.0:0.5066	.	414	Q6UXK5	LRRN1_HUMAN	I	414	ENSP00000314901:L414I	ENSP00000314901:L414I	L	+	1	2	LRRN1	3862565	0.001000	0.12720	0.005000	0.12908	0.998000	0.95712	-0.116000	0.10724	-0.864000	0.04078	0.528000	0.53228	TTA		0.488	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2		NM_020873		39	93	0	0	0	0.039052	0	39	93		
ATG7	10533	broad.mit.edu	37	3	11354786	11354786	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:11354786G>C	ENST00000354449.3	+	6	445	c.420G>C	c.(418-420)aaG>aaC	p.K140N	ATG7_ENST00000446450.2_Intron|ATG7_ENST00000354956.5_Missense_Mutation_p.K140N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	140					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.K140N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGATCTAAAGAAGTACCACT	0.373																																						uc003bwc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(418-420)AAG>AAC		APG7 autophagy 7-like isoform a							118.0	113.0	115.0					3																	11354786		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11354786G>C	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.420G>C	3.37:g.11354786G>C	ENSP00000346437:p.Lys140Asn					ATG7_uc003bwd.2_Missense_Mutation_p.K140N|ATG7_uc011aum.1_Intron	p.K140N	NM_006395	NP_006386	O95352	ATG7_HUMAN			6	537	+			140					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.420G>C	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945741	0.53079	.	.	ENSG00000197548	ENST00000451513;ENST00000354956;ENST00000354449	T;T;T	0.56941	0.43;0.43;0.43	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.92459	3.31	0.58432	D	0.999992	P;P	0.52061	0.95;0.917	P;B	0.48840	0.592;0.388	T	0.79366	-0.1833	10	0.87932	D	0	-22.0375	17.189	0.86874	0.0:0.0:1.0:0.0	.	140;140	O95352-2;O95352	.;ATG7_HUMAN	N	140	ENSP00000415223:K140N;ENSP00000347042:K140N;ENSP00000346437:K140N	ENSP00000346437:K140N	K	+	3	2	ATG7	11329786	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.033000	0.57282	2.793000	0.96121	0.563000	0.77884	AAG		0.373	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3		NM_006395		14	63	0	0	0	0.028581	0	14	63		
KCNH8	131096	broad.mit.edu	37	3	19492801	19492801	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:19492801A>G	ENST00000328405.2	+	10	1996	c.1730A>G	c.(1729-1731)tAt>tGt	p.Y577C	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	577					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.Y577C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CCGGGGGAGTATCTGCTGCGT	0.512																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|ovary(1)	5						c.(1729-1731)TAT>TGT		potassium voltage-gated channel, subfamily H,							96.0	99.0	98.0					3																	19492801		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19492801A>G	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1730A>G	3.37:g.19492801A>G	ENSP00000328813:p.Tyr577Cys					KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.Y38C|KCNH8_uc011awf.1_3'UTR	p.Y577C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			10	1925	+			577			cNMP.|Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1730A>G	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701350	0.68501	.	.	ENSG00000183960	ENST00000328405	D	0.93019	-3.15	5.68	4.5	0.54988	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.29558	U	0.011805	D	0.97056	0.9038	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96980	0.9714	9	.	.	.	.	12.0128	0.53297	0.8703:0.0:0.0:0.1297	.	577	Q96L42	KCNH8_HUMAN	C	577	ENSP00000328813:Y577C	.	Y	+	2	0	KCNH8	19467805	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.987000	0.63857	0.959000	0.37980	0.383000	0.25322	TAT		0.512	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2		NM_144633		30	68	0	0	0	0.034045	0	30	68		
SGOL1	151648	broad.mit.edu	37	3	20218129	20218129	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:20218129C>T	ENST00000263753.4	-	5	578	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	SGOL1_ENST00000306698.2_Missense_Mutation_p.E147K|SGOL1_ENST00000419233.2_Missense_Mutation_p.E147K|SGOL1_ENST00000437051.1_Missense_Mutation_p.E147K|SGOL1_ENST00000412997.1_Missense_Mutation_p.E147K|SGOL1_ENST00000442720.1_Missense_Mutation_p.E147K|SGOL1_ENST00000412868.1_Missense_Mutation_p.E147K|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000425061.1_Missense_Mutation_p.E147K|SGOL1_ENST00000443724.1_Missense_Mutation_p.E147K|SGOL1_ENST00000417364.1_Missense_Mutation_p.E147K|SGOL1_ENST00000452020.1_Missense_Mutation_p.E147K|SGOL1_ENST00000429446.3_Missense_Mutation_p.E147K|SGOL1_ENST00000421451.1_Missense_Mutation_p.E147K|SGOL1_ENST00000383774.1_Missense_Mutation_p.E147K	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	147	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)	p.E147K(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CCTGGAAGTTCAGTTTCTTCA	0.254																																						uc003cbs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(439-441)GAA>AAA		shugoshin-like 1 isoform A2							35.0	38.0	37.0					3																	20218129		2183	4249	6432	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20218129C>T	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.439G>A	3.37:g.20218129C>T	ENSP00000263753:p.Glu147Lys					SGOL1_uc003cbr.2_Missense_Mutation_p.E147K|SGOL1_uc010hfa.2_Missense_Mutation_p.E147K|SGOL1_uc003cbt.2_Missense_Mutation_p.E147K|SGOL1_uc003cbu.2_Missense_Mutation_p.E147K|SGOL1_uc003cbv.2_Missense_Mutation_p.E147K|SGOL1_uc003cbw.2_Missense_Mutation_p.E147K|SGOL1_uc003cbx.2_Missense_Mutation_p.E147K|SGOL1_uc003cby.2_Missense_Mutation_p.E147K|SGOL1_uc003cbz.2_Missense_Mutation_p.E147K|SGOL1_uc003cca.2_Missense_Mutation_p.E147K|SGOL1_uc003ccb.2_Missense_Mutation_p.E147K|SGOL1_uc003ccc.2_Missense_Mutation_p.E147K	p.E147K	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN			5	626	-			147			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.439G>A	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	c	8.154	0.787933	0.16258	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	T;T;T;T;T;T;T;T;T;T	0.46063	0.88;1.57;0.93;0.88;0.93;1.57;1.59;0.9;1.59;0.9	5.21	2.33	0.28932	.	1.260160	0.04950	N	0.460238	T	0.27278	0.0669	L	0.29908	0.895	0.19775	N	0.99995	B;B;P;B;B;B;B	0.36874	0.187;0.008;0.572;0.0;0.119;0.008;0.068	B;B;B;B;B;B;B	0.33960	0.08;0.003;0.173;0.001;0.035;0.003;0.035	T	0.15435	-1.0437	10	0.13470	T	0.59	.	4.1564	0.10263	0.1452:0.5908:0.1744:0.0897	.	147;147;147;147;147;147;147	Q5FBB7-7;B5BUA4;Q5FBB7-5;Q5FBB7-4;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;.;.;.;SGOL1_HUMAN;.	K	147	ENSP00000394625:E147K;ENSP00000263753:E147K;ENSP00000373284:E147K;ENSP00000414960:E147K;ENSP00000413070:E147K;ENSP00000414129:E147K;ENSP00000410458:E147K;ENSP00000389034:E147K;ENSP00000406880:E147K;ENSP00000394613:E147K	ENSP00000263753:E147K	E	-	1	0	SGOL1	20193133	0.108000	0.22018	0.658000	0.29665	0.053000	0.15095	0.050000	0.14120	0.246000	0.21394	-0.127000	0.14921	GAA		0.254	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1		NM_138484		11	46	0	0	0	0.09319	0	11	46		
GLB1	2720	broad.mit.edu	37	3	33038825	33038825	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:33038825C>A	ENST00000399402.3	-	16	1787	c.1656G>T	c.(1654-1656)tgG>tgT	p.W552C	GLB1_ENST00000445488.2_Missense_Mutation_p.W630C|GLB1_ENST00000307377.8_Missense_Mutation_p.W451C|GLB1_ENST00000307363.5_Missense_Mutation_p.W582C	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	582					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.W582C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				AGCCATTAATCCAGACCTGGC	0.597																																						uc003cfi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(1744-1746)TGG>TGT		galactosidase, beta 1 isoform a preproprotein							27.0	29.0	28.0					3																	33038825		1931	4131	6062	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33038825C>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1656G>T	3.37:g.33038825C>A	ENSP00000382333:p.Trp552Cys					GLB1_uc003cfh.1_Missense_Mutation_p.W552C|GLB1_uc003cfj.1_Missense_Mutation_p.W451C|GLB1_uc011axk.1_Missense_Mutation_p.W630C	p.W582C	NM_000404	NP_000395	P16278	BGAL_HUMAN			16	1863	-		Melanoma(143;0.104)	582					B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.1746G>T	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432137	0.83776	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.39	5.39	0.77823	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	M	0.86343	2.81	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.83275	0.978;0.996;0.919;0.952	D	0.99719	1.1009	10	0.87932	D	0	-3.9426	18.8067	0.92040	0.0:1.0:0.0:0.0	.	582;451;582;630	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	C	552;582;630;451	ENSP00000382333:W552C;ENSP00000306920:W582C;ENSP00000393377:W630C;ENSP00000305920:W451C	ENSP00000306920:W582C	W	-	3	0	GLB1	33013829	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.650000	0.83521	2.539000	0.85634	0.456000	0.33151	TGG		0.597	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2		NM_000404		18	40	1	0	1.56452e-12	0.043863	1.65257e-12	18	40		
MLH1	4292	broad.mit.edu	37	3	37035075	37035075	+	Missense_Mutation	SNP	G	G	A	rs63750057|rs63750081|rs587779008		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:37035075G>A	ENST00000231790.2	+	1	253	c.37G>A	c.(37-39)Gag>Aag	p.E13K	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|EPM2AIP1_ENST00000322716.5_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	13					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.E13K(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCGGCTGGACGAGACAGTGGT	0.567		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77	GRCh37	HD971451	MLH1	D	rs63750081	c.(37-39)GAG>AAG	MMR	MutL protein homolog 1							102.0	91.0	95.0					3																	37035075		2203	4300	6503	SO:0001583	missense	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37035075G>A	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.37G>A	3.37:g.37035075G>A	ENSP00000231790:p.Glu13Lys					MLH1_uc011aye.1_5'Flank|EPM2AIP1_uc003cgk.2_5'Flank|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Missense_Mutation_p.E13K|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.E13K	NM_000249	NP_000240	P40692	MLH1_HUMAN			1	97	+			13					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.37G>A	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	37	6.423256	0.97555	.	.	ENSG00000076242	ENST00000231790	D	0.90444	-2.67	5.98	5.98	0.97165	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.104185	0.64402	D	0.000004	D	0.92368	0.7578	L	0.53561	1.675	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.52514	0.701;0.581	D	0.92567	0.6063	10	0.72032	D	0.01	-23.1488	19.2211	0.93797	0.0:0.0:1.0:0.0	.	13;13	Q53GX1;P40692	.;MLH1_HUMAN	K	13	ENSP00000231790:E13K	ENSP00000231790:E13K	E	+	1	0	MLH1	37010079	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.788000	0.91834	2.838000	0.97847	0.563000	0.77884	GAG		0.567	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2		NM_000249		25	75	0	0	0	0.030593	0	25	75		
VIPR1	7433	broad.mit.edu	37	3	42576579	42576579	+	Missense_Mutation	SNP	G	G	A	rs375826611		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:42576579G>A	ENST00000325123.4	+	11	1236	c.1123G>A	c.(1123-1125)Gtc>Atc	p.V375I	VIPR1_ENST00000543411.1_Missense_Mutation_p.V327I|VIPR1_ENST00000438259.2_Missense_Mutation_p.V165I|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.V334I	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	375					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.V375I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTTTGAGCTCGTCGTGGGGTC	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		19492	0.0		0.001	False		,,,				2504	0.0					uc003clf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1123-1125)GTC>ATC		vasoactive intestinal peptide receptor 1		G	ILE/VAL	0,4406		0,0,2203	169.0	163.0	165.0		1123	0.5	0.4	3		165	1,8599	1.2+/-3.3	0,1,4299	no	missense	VIPR1	NM_004624.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	375/458	42576579	1,13005	2203	4300	6503	SO:0001583	missense	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42576579G>A	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.1123G>A	3.37:g.42576579G>A	ENSP00000327246:p.Val375Ile					VIPR1_uc011azl.1_Missense_Mutation_p.V327I|VIPR1_uc011azm.1_Missense_Mutation_p.V165I|VIPR1_uc011azn.1_Missense_Mutation_p.V348I|VIPR1_uc003clg.2_Missense_Mutation_p.V20I	p.V375I	NM_004624	NP_004615	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	11	1247	+			375			Helical; Name=7; (Potential).		A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	c.1123G>A	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.173671	0.00312	0.0	1.16E-4	ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000438259;ENST00000325123	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.63	0.493	0.16878	GPCR, family 2-like (1);	0.210380	0.40385	N	0.001115	T	0.11324	0.0276	N	0.03917	-0.325	0.09310	N	1	B;B;B;B	0.18968	0.002;0.006;0.032;0.006	B;B;B;B	0.16289	0.012;0.009;0.015;0.012	T	0.35699	-0.9778	10	0.02654	T	1	.	7.1975	0.25862	0.1917:0.2254:0.5829:0.0	.	348;165;327;375	B4DNY6;B4DEB5;F5H1F5;P32241	.;.;.;VIPR1_HUMAN	I	334;327;165;375	ENSP00000394950:V334I;ENSP00000445701:V327I;ENSP00000415371:V165I;ENSP00000327246:V375I	ENSP00000327246:V375I	V	+	1	0	VIPR1	42551583	0.982000	0.34865	0.449000	0.26957	0.005000	0.04900	2.012000	0.40932	0.063000	0.16370	-0.885000	0.02943	GTC		0.498	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4		NM_004624		64	167	0	0	0	0.048971	0	64	167		
CELSR3	1951	broad.mit.edu	37	3	48698816	48698817	+	Missense_Mutation	DNP	TC	TC	AT	rs111946927		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:48698816_48698817TC>AT	ENST00000164024.4	-	1	1531_1532	c.1251_1252GA>AT	c.(1249-1254)acGAtg>acATtg	p.M418L	CELSR3_ENST00000544264.1_Missense_Mutation_p.M418L|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	418	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.M418L(2)|p.T417T(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGGCCACCATCGTGGTGGCCG	0.658																																						uc003cul.2		NaN																	4	Substitution - Missense(2)|Substitution - coding silent(2)		urinary_tract(3)|lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(1249-1254)ACGATG>ACATTG		cadherin EGF LAG seven-pass G-type receptor 3																																				SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48698816_48698817TC>AT	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1251_1252delinsAT	3.37:g.48698816_48698817delinsAT	ENSP00000164024:p.Met418Leu					CELSR3_uc003cuf.1_Missense_Mutation_p.M488L	p.M418L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1532_1533	-			418			Extracellular (Potential).|Cadherin 1.		O75092	Missense_Mutation	DNP	ENST00000164024.4	37	c.1251_1252GA>AT	CCDS2775.1																																																																																				0.658	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		17	56	0	0	0	0.004672	0	17	56		
ARIH2OS	646450	broad.mit.edu	37	3	48956327	48956327	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:48956327C>T	ENST00000408959.2	-	1	491	c.256G>A	c.(256-258)Gac>Aac	p.D86N	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000356401.4_5'UTR|ARIH2_ENST00000449376.1_5'UTR	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	86						integral component of membrane (GO:0016021)		p.D86N(1)									TGACCGGCGTCGGCCCGCCGC	0.721																																						uc010hkk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(256-258)GAC>AAC		hypothetical protein LOC646450							7.0	9.0	8.0					3																	48956327		1350	3239	4589	SO:0001583	missense	646450					integral to membrane		g.chr3:48956327C>T	DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 71"""	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.256G>A	3.37:g.48956327C>T	ENSP00000386193:p.Asp86Asn					ARIH2_uc003cvb.2_5'UTR|ARIH2_uc003cvc.2_5'UTR	p.D86N	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN			1	492	-			86						Missense_Mutation	SNP	ENST00000408959.2	37	c.256G>A	CCDS43088.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168728	0.57584	.	.	ENSG00000221883	ENST00000408959	.	.	.	4.47	2.6	0.31112	.	.	.	.	.	T	0.18882	0.0453	N	0.08118	0	0.80722	D	1	P	0.49961	0.93	B	0.39027	0.288	T	0.04029	-1.0983	8	0.87932	D	0	.	4.6818	0.12738	0.2139:0.6692:0.0:0.117	.	86	Q8N7S6	CC071_HUMAN	N	86	.	ENSP00000386193:D86N	D	-	1	0	C3orf71	48931331	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	1.038000	0.30254	0.575000	0.29434	-0.182000	0.12963	GAC		0.721	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345247.1		NM_001123040		5	9	0	0	0	0.02938	0	5	9		
LAMB2	3913	broad.mit.edu	37	3	49166159	49166159	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:49166159C>G	ENST00000418109.1	-	15	1989	c.1825G>C	c.(1825-1827)Gag>Cag	p.E609Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.E609Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	609	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.E609Q(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCAGGAACTCCAGGGTCTGA	0.607																																						uc003cwe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1825-1827)GAG>CAG		laminin, beta 2 precursor							74.0	78.0	76.0					3																	49166159		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49166159C>G		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1825G>C	3.37:g.49166159C>G	ENSP00000388325:p.Glu609Gln					LAMB2_uc003cwf.1_Missense_Mutation_p.E609Q	p.E609Q	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	14	2124	-			609			Laminin IV type B.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1825G>C	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732534	0.48939	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.35421	1.31;1.31	4.76	3.88	0.44766	Laminin IV (1);	0.112189	0.64402	D	0.000016	T	0.27866	0.0686	L	0.58101	1.795	0.51767	D	0.999937	P	0.49090	0.919	B	0.38562	0.276	T	0.03875	-1.0996	10	0.19147	T	0.46	.	8.0563	0.30606	0.1596:0.7555:0.0:0.0849	.	609	P55268	LAMB2_HUMAN	Q	609	ENSP00000388325:E609Q;ENSP00000307156:E609Q	ENSP00000307156:E609Q	E	-	1	0	LAMB2	49141163	1.000000	0.71417	0.998000	0.56505	0.624000	0.37722	3.697000	0.54764	2.205000	0.71048	0.561000	0.74099	GAG		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1		NM_002292		47	105	0	0	0	0.048971	0	47	105		
SRPRB	58477	broad.mit.edu	37	3	133534474	133534474	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:133534474G>A	ENST00000466490.2	+	6	736	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	151					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.E151K(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						ATTCCAGCGAGAGGTGAAAGA	0.433																																						uc003epx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(451-453)GAG>AAG		signal recognition particle receptor, beta							233.0	232.0	232.0					3																	133534474		2203	4300	6503	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133534474G>A	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.451G>A	3.37:g.133534474G>A	ENSP00000418401:p.Glu151Lys						p.E151K	NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN			5	467	+			151					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.451G>A	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774172	0.90108	.	.	ENSG00000144867	ENST00000466490	T	0.15372	2.43	5.75	5.75	0.90469	.	0.048867	0.85682	D	0.000000	T	0.41143	0.1146	L	0.60012	1.86	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.01757	-1.1280	10	0.46703	T	0.11	-28.1887	20.3046	0.98621	0.0:0.0:1.0:0.0	.	151	Q9Y5M8	SRPRB_HUMAN	K	151	ENSP00000418401:E151K	ENSP00000418401:E151K	E	+	1	0	SRPRB	135017164	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.112000	0.94314	2.878000	0.98634	0.650000	0.86243	GAG		0.433	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2				216	164	0	0	0	0.048971	0	216	164		
ATR	545	broad.mit.edu	37	3	142231262	142231262	+	Silent	SNP	T	T	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:142231262T>G	ENST00000350721.4	-	27	4813	c.4692A>C	c.(4690-4692)atA>atC	p.I1564I	ATR_ENST00000383101.3_Silent_p.I1500I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1564					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I1564I(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTTGGGTATTTATGGTATGCT	0.358								Other conserved DNA damage response genes																														uc003eux.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(4690-4692)ATA>ATC	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							173.0	149.0	157.0					3																	142231262		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142231262T>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4692A>C	3.37:g.142231262T>G							p.I1564I	NM_001184	NP_001175	Q13535	ATR_HUMAN			27	4814	-			1564					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.4692A>C	CCDS3124.1																																																																																				0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2		NM_001184		49	166	0	0	0	0.048971	0	49	166		
SUCNR1	56670	broad.mit.edu	37	3	151599155	151599155	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:151599155C>T	ENST00000362032.5	+	3	929	c.824C>T	c.(823-825)tCc>tTc	p.S275F	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	275						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S275F(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTCATCAACTCCTTTTACATT	0.473																																						uc003ezf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(823-825)TCC>TTC		succinate receptor 1	Succinic acid(DB00139)						194.0	169.0	178.0					3																	151599155		2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151599155C>T	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.824C>T	3.37:g.151599155C>T	ENSP00000355156:p.Ser275Phe						p.S275F	NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	923	+			275			Extracellular (Potential).		A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.824C>T	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	C	2.400	-0.337918	0.05278	.	.	ENSG00000198829	ENST00000362032	T	0.36699	1.24	5.46	-5.03	0.02973	GPCR, rhodopsin-like superfamily (1);	0.787090	0.11628	U	0.545067	T	0.19327	0.0464	L	0.28014	0.82	0.09310	N	1	B	0.22003	0.063	B	0.20384	0.029	T	0.16041	-1.0416	10	0.27082	T	0.32	.	7.222	0.25992	0.0:0.3457:0.272:0.3823	.	275	Q9BXA5	SUCR1_HUMAN	F	275	ENSP00000355156:S275F	ENSP00000355156:S275F	S	+	2	0	SUCNR1	153081845	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.236000	0.02925	-1.500000	0.01819	-0.142000	0.14014	TCC		0.473	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2		NM_033050		154	131	0	0	0	0.048971	0	154	131		
DHX36	170506	broad.mit.edu	37	3	154018909	154018909	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:154018909G>C	ENST00000496811.1	-	10	1305	c.1225C>G	c.(1225-1227)Cca>Gca	p.P409A	DHX36_ENST00000329463.5_Missense_Mutation_p.P409A|DHX36_ENST00000308361.6_Missense_Mutation_p.P409A|DHX36_ENST00000544526.1_Missense_Mutation_p.P409A	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	409					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.P409A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTGTTCTGGAACATACCTA	0.294																																						uc003ezy.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1225-1227)CCA>GCA		DEAH (Asp-Glu-Ala-His) box polypeptide 36							66.0	68.0	67.0					3																	154018909		2203	4298	6501	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154018909G>C	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1225C>G	3.37:g.154018909G>C	ENSP00000417078:p.Pro409Ala					DHX36_uc010hvq.2_Missense_Mutation_p.P409A|DHX36_uc003ezz.3_Missense_Mutation_p.P409A	p.P409A	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		10	1306	-			409					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1225C>G	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071153	0.55646	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	L	0.59436	1.845	0.58432	D	0.999999	B;P;B	0.34639	0.272;0.461;0.178	B;B;B	0.40901	0.242;0.343;0.122	T	0.03555	-1.1025	10	0.15952	T	0.53	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	409;409;409	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	A	409;409;409;409;323	ENSP00000417078:P409A;ENSP00000309296:P409A;ENSP00000444247:P409A;ENSP00000330113:P409A;ENSP00000419862:P323A	ENSP00000309296:P409A	P	-	1	0	DHX36	155501603	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.965000	0.87945	2.788000	0.95919	0.557000	0.71058	CCA		0.294	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1		NM_020865		37	134	0	0	0	0.064281	0	37	134		
ACTL6A	86	broad.mit.edu	37	3	179291159	179291159	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:179291159G>A	ENST00000429709.2	+	4	493	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	ACTL6A_ENST00000450518.2_Missense_Mutation_p.E52K|ACTL6A_ENST00000392662.1_Missense_Mutation_p.E52K	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	94					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)	p.E94K(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TATTCTAGTTGAAGACTGGGA	0.343																																						uc003fjw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(280-282)GAA>AAA		actin-like 6A isoform 1							74.0	74.0	74.0					3																	179291159		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179291159G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.280G>A	3.37:g.179291159G>A	ENSP00000397552:p.Glu94Lys					ACTL6A_uc003fjx.2_Missense_Mutation_p.E52K|ACTL6A_uc003fjy.2_Missense_Mutation_p.E52K	p.E94K	NM_004301	NP_004292	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		4	453	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		94					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.280G>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215499	0.95104	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.94613	-3.47;-3.47;-3.47	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.95443	0.8520	L	0.37897	1.145	0.80722	D	1	D	0.64830	0.994	D	0.64321	0.924	D	0.95690	0.8739	10	0.59425	D	0.04	.	19.2768	0.94034	0.0:0.0:1.0:0.0	.	94	O96019	ACL6A_HUMAN	K	94;52;52	ENSP00000397552:E94K;ENSP00000394014:E52K;ENSP00000376430:E52K	ENSP00000376430:E52K	E	+	1	0	ACTL6A	180773853	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.686000	0.98664	2.625000	0.88918	0.555000	0.69702	GAA		0.343	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1		NM_004301		27	120	0	0	0	0.0918	0	27	120		
USP13	8975	broad.mit.edu	37	3	179460036	179460036	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:179460036G>A	ENST00000263966.3	+	12	1903	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	USP13_ENST00000496897.1_Missense_Mutation_p.E413K|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	478	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E478K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTTTTGGTGGAAGAACGCAT	0.488																																						uc003fkh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1432-1434)GAA>AAA		ubiquitin thiolesterase 13							99.0	84.0	89.0					3																	179460036		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179460036G>A	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1432G>A	3.37:g.179460036G>A	ENSP00000263966:p.Glu478Lys					USP13_uc003fkf.2_Missense_Mutation_p.E478K	p.E478K	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		12	1513	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		478					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.1432G>A	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	36	5.966815	0.97156	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T;T	0.28666	1.6;1.6;1.6	5.66	5.66	0.87406	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69989	-0.4995	10	0.62326	D	0.03	-22.9328	19.7468	0.96255	0.0:0.0:1.0:0.0	.	478;478	Q92995;A8K2S3	UBP13_HUMAN;.	K	478;413;124	ENSP00000263966:E478K;ENSP00000417146:E413K;ENSP00000420057:E124K	ENSP00000263966:E478K	E	+	1	0	USP13	180942730	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.638000	0.98445	2.678000	0.91216	0.563000	0.77884	GAA		0.488	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1				17	117	0	0	0	0.049695	0	17	117		
CRIPAK	285464	broad.mit.edu	37	4	1389009	1389009	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:1389009G>T	ENST00000324803.4	+	1	3670	c.710G>T	c.(709-711)gGa>gTa	p.G237V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	237					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G237V(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCCGATGCGGAGTGCCCGCC	0.677																																						uc003gdf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(709-711)GGA>GTA		cysteine-rich PAK1 inhibitor							157.0	132.0	140.0					4																	1389009		2188	4294	6482	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389009G>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.710G>T	4.37:g.1389009G>T	ENSP00000323978:p.Gly237Val						p.G237V	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3670	+			237			6.		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.710G>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	g	10.52	1.373907	0.24857	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.19394	2.15	1.11	1.11	0.20524	Post-SET domain (1);	.	.	.	.	T	0.18635	0.0447	N	0.08118	0	0.09310	N	0.999997	D	0.76494	0.999	P	0.61722	0.893	T	0.23440	-1.0188	9	0.26408	T	0.33	.	8.2268	0.31572	0.0:0.0:1.0:0.0	.	237	Q8N1N5	CRPAK_HUMAN	V	237;179	ENSP00000323978:G237V	ENSP00000323978:G237V	G	+	2	0	CRIPAK	1379009	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.204000	0.03017	0.941000	0.37499	0.413000	0.27773	GGA		0.677	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2		NM_175918		24	156	1	0	5.04308e-16	0.086207	5.37341e-16	24	156		
FAM193A	8603	broad.mit.edu	37	4	2701583	2701583	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:2701583G>C	ENST00000324666.5	+	17	3162	c.2811G>C	c.(2809-2811)aaG>aaC	p.K937N	FAM193A_ENST00000502458.1_Missense_Mutation_p.K959N|FAM193A_ENST00000382839.3_Missense_Mutation_p.K937N|FAM193A_ENST00000545951.1_Missense_Mutation_p.K937N|FAM193A_ENST00000505311.1_Missense_Mutation_p.K937N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	937	Poly-Lys.							p.K937N(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AAAAGAAGAAGAAGGAGAGGC	0.478																																						uc010icl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(2809-2811)AAG>AAC		hypothetical protein LOC8603							79.0	80.0	79.0					4																	2701583		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2701583G>C	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2811G>C	4.37:g.2701583G>C	ENSP00000324587:p.Lys937Asn					FAM193A_uc010ick.2_Missense_Mutation_p.K1137N|FAM193A_uc003gfd.2_Missense_Mutation_p.K937N|FAM193A_uc011bvm.1_Missense_Mutation_p.K959N|FAM193A_uc011bvn.1_Missense_Mutation_p.K937N|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.K791N	p.K937N	NM_003704	NP_003695	P78312	F193A_HUMAN			17	3162	+			937			Poly-Lys.		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.2811G>C	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581882	0.65992	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.38887	1.12;1.52;1.11;1.11;1.12	5.55	2.43	0.29744	.	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	L	0.36672	1.1	0.53005	D	0.999969	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.996;0.997;0.997	T	0.35325	-0.9793	10	0.41790	T	0.15	-36.0422	7.5688	0.27896	0.4122:0.0:0.5878:0.0	.	937;959;937;959;937	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	N	937;937;937;959;791	ENSP00000372290:K937N;ENSP00000324587:K937N;ENSP00000443617:K937N;ENSP00000427505:K959N;ENSP00000427260:K791N	ENSP00000324587:K937N	K	+	3	2	FAM193A	2671381	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.726000	0.47302	0.697000	0.31718	0.650000	0.86243	AAG		0.478	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1		NM_003704		28	74	0	0	0	0.041601	0	28	74		
BOD1L1	259282	broad.mit.edu	37	4	13602850	13602850	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:13602850C>T	ENST00000040738.5	-	10	5809	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1892						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E1892K(1)									CCTTCACTTTCTTCTCCTAAC	0.483																																						uc003gmz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|breast(1)	6						c.(5674-5676)GAA>AAA		biorientation of chromosomes in cell division							150.0	154.0	153.0					4																	13602850		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13602850C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5674G>A	4.37:g.13602850C>T	ENSP00000040738:p.Glu1892Lys					BOD1L_uc010idr.1_Missense_Mutation_p.E1229K	p.E1892K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5791	-			1892					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5674G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713994	0.30413	.	.	ENSG00000038219	ENST00000040738	T	0.18657	2.2	4.85	3.06	0.35304	.	0.000000	0.56097	D	0.000036	T	0.28499	0.0705	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.06972	-1.0797	10	0.29301	T	0.29	-1.5832	7.2369	0.26074	0.0:0.7779:0.0:0.2221	.	1892	Q8NFC6	BOD1L_HUMAN	K	1892	ENSP00000040738:E1892K	ENSP00000040738:E1892K	E	-	1	0	BOD1L	13211948	0.961000	0.32948	0.001000	0.08648	0.074000	0.17049	3.686000	0.54685	0.430000	0.26230	0.561000	0.74099	GAA		0.483	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1		NM_148894		41	105	0	0	0	0.104719	0	41	105		
CC2D2A	57545	broad.mit.edu	37	4	15569099	15569099	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:15569099C>T	ENST00000503292.1	+	26	3462	c.3282C>T	c.(3280-3282)ctC>ctT	p.L1094L	CC2D2A_ENST00000389652.5_Silent_p.L1045L|CC2D2A_ENST00000413206.1_Silent_p.L1094L|CC2D2A_ENST00000424120.1_Silent_p.L1094L	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1094	C2.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.L1094L(1)|p.L1045L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ACTACCCCCTCGGCCAGGTGA	0.493																																						uc010idv.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(2)|ovary(1)	3						c.(3280-3282)CTC>CTT		coiled-coil and C2 domain containing 2A isoform							56.0	56.0	56.0					4																	15569099		2057	4188	6245	SO:0001819	synonymous_variant	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15569099C>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3282C>T	4.37:g.15569099C>T						CC2D2A_uc003gnx.2_Silent_p.L1045L|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	p.L1094L	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			26	3527	+			1094			C2.		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	c.3282C>T	CCDS47026.1																																																																																				0.493	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2		NM_001080522		14	50	0	0	0	0.020292	0	14	50		
TLR10	81793	broad.mit.edu	37	4	38777082	38777082	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:38777082C>T	ENST00000308973.4	-	4	735	c.130G>A	c.(130-132)Gca>Aca	p.A44T	TLR10_ENST00000361424.2_Missense_Mutation_p.A44T|TLR10_ENST00000508334.1_Missense_Mutation_p.A44T|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.A44T	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	44					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.A44T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTCAAGTCTGCGGGAACCTTT	0.448																																						uc003gti.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|breast(1)	2						c.(130-132)GCA>ACA		toll-like receptor 10 precursor							88.0	79.0	82.0					4																	38777082		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38777082C>T	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.130G>A	4.37:g.38777082C>T	ENSP00000308925:p.Ala44Thr					TLR10_uc003gtj.2_Missense_Mutation_p.A44T|TLR10_uc003gtk.2_Missense_Mutation_p.A44T	p.A44T	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	509	-			44			Extracellular (Potential).|LRR 1.		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.130G>A	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289570	0.40494	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334;ENST00000502321	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;4.26	5.23	-4.92	0.03075	.	1.463340	0.04631	N	0.403637	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26467	-1.0102	10	0.42905	T	0.14	.	4.7965	0.13276	0.1097:0.1274:0.1157:0.6473	.	44	Q9BXR5	TLR10_HUMAN	T	44;44;44;44;30	ENSP00000308925:A44T;ENSP00000421483:A44T;ENSP00000354459:A44T;ENSP00000424923:A44T;ENSP00000427606:A30T	ENSP00000308925:A44T	A	-	1	0	TLR10	38453477	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.237000	0.02922	-0.910000	0.03847	-0.345000	0.07892	GCA		0.448	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1				19	42	0	0	0	0.049695	0	19	42		
KDR	3791	broad.mit.edu	37	4	55961077	55961077	+	Missense_Mutation	SNP	T	T	A	rs201830601		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:55961077T>A	ENST00000263923.4	-	21	3158	c.2863A>T	c.(2863-2865)Atc>Ttc	p.I955F	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	955	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I955F(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCACAGGGATTGCTCCAACG	0.463			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NaN		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		urinary_tract(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2863-2865)ATC>TTC		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						118.0	107.0	111.0					4																	55961077		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55961077T>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2863A>T	4.37:g.55961077T>A	ENSP00000263923:p.Ile955Phe	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.I955F	p.I955F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3165	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		955			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2863A>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	9.259	1.042809	0.19748	.	.	ENSG00000128052	ENST00000263923	T	0.76186	-1.0	5.87	1.38	0.22167	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.399490	0.28630	N	0.014677	T	0.51753	0.1693	N	0.12527	0.23	0.34223	D	0.675678	B	0.28971	0.229	B	0.36567	0.228	T	0.46721	-0.9171	10	0.10377	T	0.69	.	5.4937	0.16791	0.0:0.2779:0.2074:0.5147	.	955	P35968	VGFR2_HUMAN	F	955	ENSP00000263923:I955F	ENSP00000263923:I955F	I	-	1	0	KDR	55655834	0.824000	0.29247	0.853000	0.33588	0.110000	0.19582	0.460000	0.21924	-0.009000	0.14296	-0.250000	0.11733	ATC		0.463	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1				24	61	0	0	0	0.076483	0	24	61		
KDR	3791	broad.mit.edu	37	4	55961105	55961105	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:55961105G>A	ENST00000263923.4	-	21	3130	c.2835C>T	c.(2833-2835)ttC>ttT	p.F945F	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	945	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F945F(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCTTGACGGAATCGTGCCC	0.433			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NaN		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - coding silent(1)		urinary_tract(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2833-2835)TTC>TTT		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						84.0	77.0	79.0					4																	55961105		2203	4300	6503	SO:0001819	synonymous_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55961105G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2835C>T	4.37:g.55961105G>A		TSP Lung(20;0.16)				KDR_uc003hat.1_Silent_p.F945F	p.F945F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3137	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		945			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.2835C>T	CCDS3497.1																																																																																				0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1				20	48	0	0	0	0.055883	0	20	48		
GRID2	2895	broad.mit.edu	37	4	94693231	94693231	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:94693231A>G	ENST00000282020.4	+	16	2864	c.2606A>G	c.(2605-2607)gAc>gGc	p.D869G	GRID2_ENST00000510992.1_Missense_Mutation_p.D774G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	869					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.D869G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTCCAGGATGACAAGGAAATT	0.383																																						uc011cdt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(2605-2607)GAC>GGC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						115.0	107.0	109.0					4																	94693231		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693231A>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2606A>G	4.37:g.94693231A>G	ENSP00000282020:p.Asp869Gly					GRID2_uc011cdu.1_Missense_Mutation_p.D774G	p.D869G	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	2864	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	869			Cytoplasmic (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2606A>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985404	0.74474	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.15017	2.51;2.46	5.33	5.33	0.75918	.	0.925331	0.09302	N	0.820768	T	0.30417	0.0764	L	0.34521	1.04	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72338	0.956;0.977	T	0.01557	-1.1325	10	0.09084	T	0.74	.	15.2941	0.73891	1.0:0.0:0.0:0.0	.	774;869	E9PH24;O43424	.;GRID2_HUMAN	G	869;774	ENSP00000282020:D869G;ENSP00000421257:D774G	ENSP00000282020:D869G	D	+	2	0	GRID2	94912254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.957000	0.93082	2.009000	0.58944	0.477000	0.44152	GAC		0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2				18	67	0	0	0	0.049695	0	18	67		
EGF	1950	broad.mit.edu	37	4	110890162	110890162	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:110890162G>C	ENST00000265171.5	+	11	2056	c.1611G>C	c.(1609-1611)gaG>gaC	p.E537D	EGF_ENST00000503392.1_Missense_Mutation_p.E537D|EGF_ENST00000509793.1_Missense_Mutation_p.E495D	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	537					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.E537D(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AGTGGATAGAGAGAGCTAATA	0.403																																						uc003hzy.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1609-1611)GAG>GAC		epidermal growth factor precursor	Sulindac(DB00605)						145.0	138.0	140.0					4																	110890162		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110890162G>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1611G>C	4.37:g.110890162G>C	ENSP00000265171:p.Glu537Asp					EGF_uc011cfu.1_Missense_Mutation_p.E495D|EGF_uc011cfv.1_Missense_Mutation_p.E537D	p.E537D	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	11	2063	+		Hepatocellular(203;0.0893)	537			LDL-receptor class B 6.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1611G>C	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046320	0.55110	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.96104	-3.91;-3.91;-3.91	4.87	3.15	0.36227	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96846	0.8970	M	0.78223	2.4	0.48975	D	0.999735	D;D;D	0.89917	1.0;0.99;1.0	D;D;D	0.97110	0.999;0.969;1.0	D	0.95465	0.8546	10	0.54805	T	0.06	.	8.0566	0.30608	0.3379:0.0:0.6621:0.0	.	537;495;537	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	D	495;537;537	ENSP00000424316:E495D;ENSP00000265171:E537D;ENSP00000421384:E537D	ENSP00000265171:E537D	E	+	3	2	EGF	111109611	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	2.218000	0.42889	0.590000	0.29694	-0.142000	0.14014	GAG		0.403	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1				28	70	0	0	0	0.059317	0	28	70		
ANK2	287	broad.mit.edu	37	4	114158306	114158306	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:114158306A>G	ENST00000357077.4	+	6	700	c.647A>G	c.(646-648)cAc>cGc	p.H216R	ANK2_ENST00000394537.3_Missense_Mutation_p.H216R|ANK2_ENST00000264366.6_Missense_Mutation_p.H216R|ANK2_ENST00000506722.1_Missense_Mutation_p.H195R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	216					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.H216R(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAATGACCACAATGCTGAC	0.483																																						uc003ibe.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(646-648)CAC>CGC		ankyrin 2 isoform 1							153.0	141.0	145.0					4																	114158306		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114158306A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.647A>G	4.37:g.114158306A>G	ENSP00000349588:p.His216Arg					ANK2_uc003ibd.3_Missense_Mutation_p.H195R|ANK2_uc003ibf.3_Missense_Mutation_p.H216R|ANK2_uc003ibc.2_Missense_Mutation_p.H192R|ANK2_uc011cgb.1_Missense_Mutation_p.H231R	p.H216R	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	6	747	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	216			ANK 6.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.647A>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311269	0.60414	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.63255	2.02;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000043	T	0.73473	0.3591	L	0.43923	1.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.967;0.999;1.0;0.981	D;P;D;D;D	0.91635	0.997;0.738;0.986;0.999;0.983	T	0.75693	-0.3229	10	0.66056	D	0.02	.	16.0172	0.80450	1.0:0.0:0.0:0.0	.	216;216;216;195;195	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	195;195;195;231;216;216;216;195	ENSP00000423799:H195R;ENSP00000421011:H195R;ENSP00000421067:H195R;ENSP00000424722:H231R;ENSP00000378044:H216R;ENSP00000349588:H216R;ENSP00000264366:H216R	ENSP00000264366:H216R	H	+	2	0	ANK2	114377755	1.000000	0.71417	0.997000	0.53966	0.666000	0.39218	9.287000	0.95975	2.239000	0.73571	0.528000	0.53228	CAC		0.483	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		64	155	0	0	0	0.048971	0	64	155		
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		139	Substitution - Missense(138)|Unknown(1)	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1513-1515)CGC>GGC		F-box and WD repeat domain containing 7 isoform							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	p.R505G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1662	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).	WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				15	58	0	0	0	0.020292	0	15	58		
EGFLAM	133584	broad.mit.edu	37	5	38407204	38407204	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:38407204G>A	ENST00000354891.3	+	8	1449	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R368Q|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R134Q|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	368	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R368Q(4)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGGGGCTCGCGATGCCAGTGC	0.552																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(1102-1104)CGA>CAA		EGF-like, fibronectin type III and laminin G							52.0	53.0	52.0					5																	38407204		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407204G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1103G>A	5.37:g.38407204G>A	ENSP00000346964:p.Arg368Gln					EGFLAM_uc003jlb.1_Missense_Mutation_p.R368Q|EGFLAM_uc003jle.1_Missense_Mutation_p.R134Q|EGFLAM_uc003jlf.1_Intron	p.R368Q	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			8	1427	+	all_lung(31;0.000385)		368			EGF-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1103G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003500	0.74932	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79033	-1.23;-1.23;-1.23	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.061363	0.64402	D	0.000002	T	0.75347	0.3837	L	0.49350	1.555	0.80722	D	1	P;P;P	0.49635	0.468;0.593;0.926	B;B;P	0.45310	0.04;0.055;0.476	T	0.76503	-0.2935	10	0.48119	T	0.1	-0.7981	13.0662	0.59034	0.0733:0.0:0.9267:0.0	.	134;368;368	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	Q	368;368;134;134	ENSP00000346964:R368Q;ENSP00000313084:R368Q;ENSP00000337607:R134Q	ENSP00000313084:R368Q	R	+	2	0	EGFLAM	38442961	1.000000	0.71417	0.238000	0.24106	0.970000	0.65996	6.043000	0.71004	2.685000	0.91497	0.655000	0.94253	CGA		0.552	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1		NM_152403		22	52	0	0	0	0.062417	0	22	52		
IL6ST	3572	broad.mit.edu	37	5	55247891	55247891	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:55247891C>G	ENST00000381298.2	-	13	1877	c.1565G>C	c.(1564-1566)gGa>gCa	p.G522A	IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.G522A|IL6ST_ENST00000381294.3_Missense_Mutation_p.G461A|IL6ST_ENST00000336909.5_Missense_Mutation_p.G522A|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381293.2_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	522	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.G522A(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AACAGTAGGTCCTTTGGAAGG	0.348			O		hepatocellular ca																																	uc003jqq.2		NaN		Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(1564-1566)GGA>GCA		interleukin 6 signal transducer isoform 1							70.0	60.0	64.0					5																	55247891		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55247891C>G	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1565G>C	5.37:g.55247891C>G	ENSP00000370698:p.Gly522Ala					IL6ST_uc010iwb.2_Missense_Mutation_p.G461A|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.G233A|IL6ST_uc003jqr.2_3'UTR|IL6ST_uc010iwe.1_5'Flank	p.G522A	NM_002184	NP_002175	P40189	IL6RB_HUMAN			13	1820	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	522			Extracellular (Potential).|Fibronectin type-III 5.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.1565G>C	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360663	0.82353	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.52295	0.67;0.67;2.36	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.048408	0.85682	D	0.000000	T	0.66046	0.2750	L	0.58101	1.795	0.80722	D	1	D;D;D	0.64830	0.986;0.993;0.994	P;D;D	0.71414	0.718;0.973;0.937	T	0.58188	-0.7680	10	0.29301	T	0.29	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	522;461;522	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	A	522;522;461	ENSP00000370698:G522A;ENSP00000338799:G522A;ENSP00000370694:G461A	ENSP00000338799:G522A	G	-	2	0	IL6ST	55283648	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.663000	0.68038	2.770000	0.95276	0.655000	0.94253	GGA		0.348	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3		NM_002184		25	49	0	0	0	0.027356	0	25	49		
VCAN	1462	broad.mit.edu	37	5	82817190	82817190	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:82817190G>A	ENST00000265077.3	+	7	3630	c.3065G>A	c.(3064-3066)aGa>aAa	p.R1022K	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.R1022K|VCAN_ENST00000512590.2_Missense_Mutation_p.R974K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1022	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.R1022K(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAAACTATGAGAACAACAAAA	0.433																																						uc003kii.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(3064-3066)AGA>AAA		versican isoform 1 precursor							41.0	41.0	41.0					5																	82817190		2203	4299	6502	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817190G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3065G>A	5.37:g.82817190G>A	ENSP00000265077:p.Arg1022Lys					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.R1022K|VCAN_uc003kik.3_Intron	p.R1022K	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3421	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1022			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3065G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.179460	0.00308	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.84800	-1.8;-1.88;-1.9	5.72	1.29	0.21616	.	0.642897	0.14651	N	0.306581	T	0.76969	0.4062	M	0.63428	1.95	0.09310	N	1	B;P	0.35844	0.228;0.524	B;B	0.31946	0.083;0.138	T	0.62416	-0.6859	10	0.23891	T	0.37	.	4.4352	0.11547	0.105:0.3856:0.3781:0.1312	.	1022;1022	P13611-3;P13611	.;CSPG2_HUMAN	K	1022;1022;974	ENSP00000265077:R1022K;ENSP00000342768:R1022K;ENSP00000425959:R974K	ENSP00000265077:R1022K	R	+	2	0	VCAN	82852946	0.915000	0.31059	0.122000	0.21767	0.016000	0.09150	1.033000	0.30191	0.713000	0.32060	-0.282000	0.10007	AGA		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		18	44	0	0	0	0.038395	0	18	44		
GPR98	84059	broad.mit.edu	37	5	90106172	90106172	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:90106172G>A	ENST00000405460.2	+	74	15191	c.15095G>A	c.(15094-15096)gGg>gAg	p.G5032E	GPR98_ENST00000425867.2_Missense_Mutation_p.G693E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5032	Calx-beta 33. {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)	p.G5032E(1)		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)		AGACTATTTGGGTTCCACAGC	0.403																																						uc003kju.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(15094-15096)GGG>GAG		G protein-coupled receptor 98 precursor							54.0	52.0	52.0					5																	90106172		1857	4101	5958	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106172G>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.15095G>A	5.37:g.90106172G>A	ENSP00000384582:p.Gly5032Glu					GPR98_uc003kjt.2_Missense_Mutation_p.G2738E|GPR98_uc003kjw.2_Missense_Mutation_p.G693E	p.G5032E	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)	74	15191	+		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)	5032			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15095G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011425	0.75046	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.37411	1.2;1.2	5.47	5.47	0.80525	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	M	0.93375	3.41	0.51012	D	0.999902	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.79140	-0.1926	9	.	.	.	.	19.6887	0.95989	0.0:0.0:1.0:0.0	.	693;5032;693	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	E	5032;5032;693	ENSP00000384582:G5032E;ENSP00000392618:G693E	.	G	+	2	0	GPR98	90141928	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	8.881000	0.92415	2.722000	0.93159	0.557000	0.71058	GGG		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		8	18	0	0	0	0.038147	0	8	18		
RFESD	317671	broad.mit.edu	37	5	94989768	94989768	+	Start_Codon_SNP	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:94989768G>A	ENST00000311364.4	+	3	1420	c.3G>A	c.(1-3)atG>atA	p.M1I	RFESD_ENST00000458310.1_Missense_Mutation_p.M54I|RFESD_ENST00000513950.2_Start_Codon_SNP_p.M1I|SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000380005.4_Missense_Mutation_p.M54I	NM_173362.3	NP_775498.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	1							2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.M1I(1)|p.M54I(1)		autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		CAACTAGCATGAATCTTGATG	0.373																																						uc003klf.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1-3)ATG>ATA		Rieske (Fe-S) domain containing isoform 2							73.0	69.0	71.0					5																	94989768		2203	4300	6503	SO:0001582	initiator_codon_variant	317671						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity	g.chr5:94989768G>A	BC035110	CCDS4075.1, CCDS47248.1	5q15	2010-12-07			ENSG00000175449	ENSG00000175449			29587	protein-coding gene	gene with protein product						12477932	Standard	NM_173362		Approved		uc003klg.3	Q8TAC1	OTTHUMG00000121168	ENST00000311364.4:c.3G>A	5.37:g.94989768G>A	ENSP00000309229:p.Met1Ile					RFESD_uc003klg.2_Missense_Mutation_p.M54I|RFESD_uc011cun.1_Missense_Mutation_p.M54I|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	p.M1I	NM_173362	NP_775498	Q8TAC1	RFESD_HUMAN		all cancers(79;5.94e-17)	3	1395	+		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)	1					J3KPH1	Missense_Mutation	SNP	ENST00000311364.4	37	c.3G>A	CCDS4075.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.766876	0.69878	.	.	ENSG00000175449	ENST00000511684;ENST00000380005;ENST00000311364;ENST00000458310;ENST00000513950	.	.	.	5.72	5.72	0.89469	.	0.137856	0.64402	D	0.000005	T	0.74419	0.3714	.	.	.	0.80722	D	1	D;D;D	0.56968	0.978;0.963;0.963	P;P;P	0.53861	0.736;0.549;0.549	T	0.75872	-0.3164	8	0.56958	D	0.05	-7.9829	19.4758	0.94987	0.0:0.0:1.0:0.0	.	1;1;1	D6RJG8;D6RBY0;Q8TAC1	.;.;RFESD_HUMAN	I	1;54;1;54;1	.	ENSP00000309229:M1I	M	+	3	0	RFESD	95015524	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	6.549000	0.73900	2.700000	0.92200	0.563000	0.77884	ATG		0.373	RFESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241654.1		NM_173362	Missense_Mutation	14	47	0	0	0	0.024245	0	14	47		
PPIP5K2	23262	broad.mit.edu	37	5	102526629	102526629	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:102526629C>T	ENST00000358359.3	+	29	3948	c.3439C>T	c.(3439-3441)Ctt>Ttt	p.L1147F	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.L1126F|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L1126F	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1147					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.L1126F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGATGAATTTCTTGCTTCCAT	0.373																																						uc003kod.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(3439-3441)CTT>TTT		Histidine acid phosphatase domain containing 1							137.0	134.0	135.0					5																	102526629		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102526629C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3439C>T	5.37:g.102526629C>T	ENSP00000351126:p.Leu1147Phe					PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.L1126F|PPIP5K2_uc003kof.2_Missense_Mutation_p.L329F	p.L1147F	NM_015216	NP_056031	O43314	VIP2_HUMAN			29	3958	+			1147					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.3439C>T		.	.	.	.	.	.	.	.	.	.	C	16.41	3.115832	0.56505	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.53640	1.59;1.58;1.59;0.61	5.69	4.82	0.62117	.	0.000000	0.64402	D	0.000003	T	0.44685	0.1305	L	0.55103	1.725	0.47009	D	0.999287	B;P;B	0.35944	0.092;0.529;0.051	B;B;B	0.37387	0.05;0.248;0.05	T	0.44112	-0.9349	10	0.48119	T	0.1	-16.6698	12.3393	0.55085	0.0:0.8668:0.0:0.1332	.	1182;1126;1147	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	F	1126;1147;1182;1126;302	ENSP00000313070:L1126F;ENSP00000351126:L1147F;ENSP00000416016:L1126F;ENSP00000424948:L302F	ENSP00000313070:L1126F	L	+	1	0	PPIP5K2	102554528	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.718000	0.47236	2.676000	0.91093	0.655000	0.94253	CTT		0.373	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1		NM_015216		33	72	0	0	0	0.069456	0	33	72		
GRIA1	2890	broad.mit.edu	37	5	153181955	153181955	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:153181955G>A	ENST00000285900.5	+	15	2768	c.2425G>A	c.(2425-2427)Gtg>Atg	p.V809M	GRIA1_ENST00000340592.5_Missense_Mutation_p.V809M|GRIA1_ENST00000518783.1_Missense_Mutation_p.V819M|GRIA1_ENST00000518142.1_Missense_Mutation_p.V729M|GRIA1_ENST00000448073.4_Missense_Mutation_p.V819M|GRIA1_ENST00000521843.2_Missense_Mutation_p.V740M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	809					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.V809M(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGTGGCAGGCGTGTTCTACAT	0.517																																						uc003lva.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|skin(2)	6						c.(2425-2427)GTG>ATG		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						170.0	151.0	158.0					5																	153181955		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153181955G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2425G>A	5.37:g.153181955G>A	ENSP00000285900:p.Val809Met					GRIA1_uc003luy.3_Missense_Mutation_p.V809M|GRIA1_uc003luz.3_Missense_Mutation_p.V714M|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.V729M|GRIA1_uc011dcx.1_Missense_Mutation_p.V740M|GRIA1_uc011dcy.1_Missense_Mutation_p.V819M|GRIA1_uc011dcz.1_Missense_Mutation_p.V819M	p.V809M	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		15	2790	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	809			Helical; (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2425G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761032	0.89932	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.44	5.44	0.79542	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.69523	2.12	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;P;D	0.85130	0.933;0.933;0.982;0.89;0.997	T	0.75703	-0.3225	10	0.87932	D	0	.	18.2505	0.90000	0.0:0.0:1.0:0.0	.	819;819;729;809;809	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	M	809;809;729;809;742;740;819;819	ENSP00000285900:V809M;ENSP00000427920:V729M;ENSP00000339343:V809M;ENSP00000427864:V742M;ENSP00000442108:V740M;ENSP00000428994:V819M;ENSP00000415569:V819M	ENSP00000285900:V809M	V	+	1	0	GRIA1	153162148	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.581000	0.98210	2.551000	0.86045	0.655000	0.94253	GTG		0.517	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3				45	101	0	0	0	0.048971	0	45	101		
MSH5	4439	broad.mit.edu	37	6	31727896	31727896	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:31727896C>A	ENST00000375755.3	+	19	2001	c.1715C>A	c.(1714-1716)aCc>aAc	p.T572N	MSH5_ENST00000395853.1_Missense_Mutation_p.T246N|SAPCD1_ENST00000425424.1_5'Flank|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.T589N|MSH5_ENST00000375750.3_Missense_Mutation_p.T572N|MSH5_ENST00000375742.3_Missense_Mutation_p.T589N|MSH5_ENST00000375740.3_Missense_Mutation_p.T589N|MSH5_ENST00000375703.3_Missense_Mutation_p.T572N|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000431848.2_Missense_Mutation_p.T271N|MSH5_ENST00000534153.4_Missense_Mutation_p.T589N	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	572					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.T589N(1)|p.T572N(1)		breast(1)|ovary(2)|skin(2)	5						TGTGCCCGAACCTTTGTGCCC	0.532								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|breast(1)	3						c.(1714-1716)ACC>AAC	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							109.0	110.0	110.0					6																	31727896		2203	4300	6503	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31727896C>A	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1715C>A	6.37:g.31727896C>A	ENSP00000364908:p.Thr572Asn					MSH5_uc003nwt.1_Missense_Mutation_p.T589N|MSH5_uc003nwu.1_Missense_Mutation_p.T572N|MSH5_uc003nww.1_Missense_Mutation_p.T572N|MSH5_uc003nwx.1_Missense_Mutation_p.T589N|MSH5_uc011dof.1_Missense_Mutation_p.T271N|MSH5_uc003nwy.1_Missense_Mutation_p.T246N|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank	p.T572N	NM_172166	NP_751898	O43196	MSH5_HUMAN			19	1794	+			572					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1715C>A	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485724	0.63962	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	6.06	6.06	0.98353	DNA mismatch repair protein MutS, C-terminal (1);	0.157530	0.56097	D	0.000021	T	0.72104	0.3419	N	0.25245	0.725	0.36240	D	0.853196	B;P;B;B;P	0.40619	0.357;0.532;0.387;0.198;0.724	B;B;B;B;B	0.41988	0.079;0.19;0.114;0.171;0.372	T	0.72465	-0.4285	9	0.24483	T	0.36	-16.6338	18.1147	0.89549	0.0:1.0:0.0:0.0	.	257;589;572;572;589	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	N	572;589;104;572;589;572;589;271;246	ENSP00000364908:T572N;ENSP00000364894:T589N;ENSP00000364903:T572N;ENSP00000431693:T589N;ENSP00000364855:T572N;ENSP00000364892:T589N;ENSP00000416784:T271N;ENSP00000379194:T246N	ENSP00000364855:T572N	T	+	2	0	MSH5	31835875	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	3.966000	0.56795	2.882000	0.98803	0.655000	0.94253	ACC		0.532	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4				78	169	1	0	9.34078e-37	0.048971	1.03129e-36	78	169		
SLC44A4	80736	broad.mit.edu	37	6	31838641	31838641	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:31838641G>A	ENST00000229729.6	-	10	905	c.885C>T	c.(883-885)ttC>ttT	p.F295F	SLC44A4_ENST00000375562.4_Silent_p.F253F|SLC44A4_ENST00000544672.1_Silent_p.F219F	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	295					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F295F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGTTGGTGGTGAAACCCAGCT	0.662																																						uc010jti.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(883-885)TTC>TTT		choline transporter-like protein 4	Choline(DB00122)						70.0	62.0	65.0					6																	31838641		1511	2709	4220	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31838641G>A	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.885C>T	6.37:g.31838641G>A						SLC44A4_uc011dol.1_Silent_p.F219F|SLC44A4_uc011dom.1_Silent_p.F253F	p.F295F	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			10	951	-			295			Extracellular (Potential).		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.885C>T	CCDS4724.2																																																																																				0.662	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3				39	95	0	0	0	0.036044	0	39	95		
PHIP	55023	broad.mit.edu	37	6	79727268	79727268	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:79727268G>A	ENST00000275034.4	-	11	1194	c.1027C>T	c.(1027-1029)Cat>Tat	p.H343Y		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	343					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.H343Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CGAATAATATGATCTGTGCTT	0.323																																						uc003pir.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1027-1029)CAT>TAT		pleckstrin homology domain interacting protein							43.0	45.0	44.0					6																	79727268		2203	4296	6499	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79727268G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1027C>T	6.37:g.79727268G>A	ENSP00000275034:p.His343Tyr					PHIP_uc011dyp.1_Missense_Mutation_p.H343Y	p.H343Y	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	11	1253	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	343			WD 4.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.1027C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413105	0.83449	.	.	ENSG00000146247	ENST00000275034	T	0.18657	2.2	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	M	0.78637	2.42	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.67900	0.954;0.954	T	0.19679	-1.0298	9	.	.	.	-14.8788	17.8916	0.88874	0.0:0.0:1.0:0.0	.	343;343	A7J992;Q8WWQ0	.;PHIP_HUMAN	Y	343	ENSP00000275034:H343Y	.	H	-	1	0	PHIP	79783987	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.455000	0.83008	0.555000	0.69702	CAT		0.323	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2				18	39	0	0	0	0.049695	0	18	39		
C6orf165	154313	broad.mit.edu	37	6	88136336	88136336	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:88136336G>C	ENST00000507897.1	+	8	1016	c.933G>C	c.(931-933)aaG>aaC	p.K311N	C6ORF165_ENST00000369562.4_Missense_Mutation_p.K311N			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	311								p.K311N(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TAAAATCAAAGATAGCGGTCC	0.363																																						uc003plv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(931-933)AAG>AAC		hypothetical protein LOC154313 isoform 1							69.0	67.0	68.0					6																	88136336		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88136336G>C	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.933G>C	6.37:g.88136336G>C	ENSP00000426769:p.Lys311Asn					C6orf165_uc003plw.2_Missense_Mutation_p.K123N|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.K311N	p.K311N	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	8	1025	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	311					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.933G>C	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838790	0.71373	.	.	ENSG00000213204	ENST00000369562	T	0.39406	1.08	5.7	4.83	0.62350	.	0.092982	0.64402	D	0.000001	T	0.56062	0.1960	M	0.76574	2.34	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.63585	-0.6604	10	0.66056	D	0.02	.	14.63	0.68650	0.0697:0.0:0.9302:0.0	.	311;311	Q8IYR0;E1P509	CF165_HUMAN;.	N	311	ENSP00000358575:K311N	ENSP00000358575:K311N	K	+	3	2	C6orf165	88193055	1.000000	0.71417	0.986000	0.45419	0.652000	0.38707	1.863000	0.39459	1.421000	0.47157	0.467000	0.42956	AAG		0.363	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1		NM_178823		15	37	0	0	0	0.028581	0	15	37		
MDN1	23195	broad.mit.edu	37	6	90468570	90468570	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:90468570G>A	ENST00000369393.3	-	18	2685	c.2570C>T	c.(2569-2571)tCt>tTt	p.S857F	MDN1_ENST00000428876.1_Missense_Mutation_p.S857F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	857					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.S857F(1)|p.S857Y(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGGGATCCAGAAGATCCTTC	0.473																																						uc003pnn.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	ovary(8)|skin(2)	10						c.(2569-2571)TCT>TTT		MDN1, midasin homolog							111.0	96.0	101.0					6																	90468570		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90468570G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2570C>T	6.37:g.90468570G>A	ENSP00000358400:p.Ser857Phe					MDN1_uc003pno.1_Missense_Mutation_p.S275F	p.S857F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	18	2686	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	857					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.2570C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294887	0.60086	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.55234	0.53;0.53;0.53	5.78	3.99	0.46301	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.259419	0.40144	N	0.001178	T	0.33381	0.0861	M	0.64630	1.985	0.46149	D	0.998893	P;B	0.38395	0.629;0.028	B;B	0.36335	0.222;0.14	T	0.22941	-1.0202	10	0.52906	T	0.07	.	10.7102	0.45980	0.0679:0.0:0.7994:0.1327	.	784;857	Q5T795;Q9NU22	.;MDN1_HUMAN	F	857;857;784	ENSP00000358400:S857F;ENSP00000413970:S857F;ENSP00000409664:S784F	ENSP00000358400:S857F	S	-	2	0	MDN1	90525291	1.000000	0.71417	0.891000	0.34965	0.986000	0.74619	4.595000	0.61048	0.783000	0.33636	0.563000	0.77884	TCT		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				13	40	0	0	0	0.016723	0	13	40		
ASF1A	25842	broad.mit.edu	37	6	119226948	119226948	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:119226948G>A	ENST00000229595.5	+	3	551	c.357G>A	c.(355-357)gaG>gaA	p.E119E	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	119	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)	p.E119E(1)		endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		AATATACTGAGACAGAATTAA	0.323																																						uc011ebn.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(355-357)GAG>GAA		ASF1 anti-silencing function 1 homolog A							92.0	93.0	93.0					6																	119226948		1816	4085	5901	SO:0001819	synonymous_variant	25842				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding	g.chr6:119226948G>A	AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.357G>A	6.37:g.119226948G>A							p.E119E	NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)	3	694	+		all_cancers(87;0.122)|all_epithelial(87;0.179)	119			Interaction with histone H3, CHAF1B, and HIRA.		Q6IA08|Q9P014	Silent	SNP	ENST00000229595.5	37	c.357G>A	CCDS47469.1																																																																																				0.323	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361910.1		NM_014034		33	73	0	0	0	0.041601	0	33	73		
SYNE1	23345	broad.mit.edu	37	6	152650896	152650896	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:152650896C>G	ENST00000367255.5	-	78	15525	c.14924G>C	c.(14923-14925)gGa>gCa	p.G4975A	SYNE1_ENST00000423061.1_Missense_Mutation_p.G4904A|SYNE1_ENST00000341594.5_Missense_Mutation_p.G4722A|SYNE1_ENST00000265368.4_Missense_Mutation_p.G4975A|SYNE1_ENST00000448038.1_Missense_Mutation_p.G4904A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4975					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.G4975A(2)|p.G4904A(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGATGTCTCCATCCAGCTC	0.463										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(14923-14925)GGA>GCA		spectrin repeat containing, nuclear envelope 1							134.0	138.0	137.0					6																	152650896		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152650896C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14924G>C	6.37:g.152650896C>G	ENSP00000356224:p.Gly4975Ala	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.G4904A|SYNE1_uc003qou.3_Missense_Mutation_p.G4975A|SYNE1_uc010kiz.2_Missense_Mutation_p.G730A	p.G4975A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15526	-		Ovarian(120;0.0955)	4975			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14924G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475769	0.26511	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	6.03	4.01	0.46588	.	0.321619	0.26499	N	0.024028	T	0.12646	0.0307	N	0.24115	0.695	0.41384	D	0.987574	B;B;B;B	0.12013	0.005;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.12426	-1.0548	10	0.09843	T	0.71	.	6.3816	0.21538	0.0:0.6556:0.1644:0.1801	.	4975;4975;4975;4904	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	A	4975;4904;4975;4904;4722	ENSP00000356224:G4975A;ENSP00000396024:G4904A;ENSP00000265368:G4975A;ENSP00000390975:G4904A;ENSP00000341887:G4722A	ENSP00000265368:G4975A	G	-	2	0	SYNE1	152692589	0.000000	0.05858	0.349000	0.25694	0.980000	0.70556	0.855000	0.27805	2.861000	0.98227	0.655000	0.94253	GGA		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		48	134	0	0	0	0.045515	0	48	134		
TTLL2	83887	broad.mit.edu	37	6	167755005	167755005	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:167755005G>A	ENST00000239587.5	+	3	1705	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	539					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.P539P(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGACCTCCCCGTGTGTCCTGT	0.542																																						uc003qvs.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1615-1617)CCG>CCA		tubulin tyrosine ligase-like family, member 2							126.0	110.0	116.0					6																	167755005		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167755005G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1617G>A	6.37:g.167755005G>A						TTLL2_uc011egr.1_RNA	p.P539P	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1705	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	539					B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.1617G>A	CCDS5301.1																																																																																				0.542	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3		NM_031949		40	77	0	0	0	0.086207	0	40	77		
SMOC2	64094	broad.mit.edu	37	6	169064768	169064768	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:169064768G>A	ENST00000356284.2	+	12	1520	c.1300G>A	c.(1300-1302)Gct>Act	p.A434T	SMOC2_ENST00000477998.1_3'UTR|SMOC2_ENST00000354536.5_Missense_Mutation_p.A445T	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	434				A -> V (in Ref. 6; AAH47583). {ECO:0000305}.	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)	p.A445T(1)		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)		CAGAGGTCATGCTGAAAGTAC	0.299																																						uc003qws.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1300-1302)GCT>ACT		SPARC related modular calcium binding 2							50.0	51.0	51.0					6																	169064768		2203	4300	6503	SO:0001583	missense	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:169064768G>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.1300G>A	6.37:g.169064768G>A	ENSP00000348630:p.Ala434Thr					SMOC2_uc003qwr.1_Missense_Mutation_p.A445T|SMOC2_uc011egu.1_Missense_Mutation_p.A111T	p.A434T	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	1320	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	434	A -> V (in Ref. 6; AAH47583).				B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	c.1300G>A	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	G	8.638	0.895264	0.17613	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793;ENST00000392101;ENST00000538593;ENST00000417208	T;T	0.38240	1.15;1.17	3.56	0.408	0.16377	.	0.690352	0.12340	N	0.477591	T	0.06050	0.0157	L	0.27053	0.805	0.09310	N	0.999997	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.36841	-0.9731	10	0.15499	T	0.54	-0.7655	1.8511	0.03169	0.121:0.2038:0.4661:0.2091	.	434;445	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	T	434;445;434;111;111;54	ENSP00000348630:A434T;ENSP00000346537:A445T	ENSP00000346537:A445T	A	+	1	0	SMOC2	168806693	0.043000	0.20138	0.089000	0.20774	0.549000	0.35272	0.030000	0.13688	0.297000	0.22615	-0.150000	0.13652	GCT		0.299	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1				16	43	0	0	0	0.0333	0	16	43		
RNF216	54476	broad.mit.edu	37	7	5662766	5662766	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:5662766C>G	ENST00000425013.2	-	17	2550	c.2326G>C	c.(2326-2328)Gag>Cag	p.E776Q	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.E833Q	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	776	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E833Q(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCACCTTCTCCACAGGCTTC	0.577																																						uc003soy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(2)	5						c.(2326-2328)GAG>CAG		ring finger protein 216 isoform b							45.0	50.0	49.0					7																	5662766		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5662766C>G	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2326G>C	7.37:g.5662766C>G	ENSP00000404602:p.Glu776Gln					RNF216_uc010ksz.1_Missense_Mutation_p.E398Q|RNF216_uc010kta.1_Missense_Mutation_p.E398Q|RNF216_uc011jwj.1_Missense_Mutation_p.E398Q|RNF216_uc003sox.1_Missense_Mutation_p.E833Q	p.E776Q	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2516	-		Ovarian(82;0.07)	776			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2326G>C	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193891	0.38707	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.45276	0.91;0.9	5.14	5.14	0.70334	.	0.127960	0.51477	D	0.000081	T	0.38268	0.1034	L	0.47716	1.5	0.30191	N	0.799497	P;P	0.52061	0.625;0.95	B;B	0.43867	0.264;0.434	T	0.39981	-0.9587	10	0.30854	T	0.27	-19.1587	12.9749	0.58532	0.1616:0.8384:0.0:0.0	.	776;833	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	Q	776;833;588	ENSP00000404602:E776Q;ENSP00000374552:E833Q	ENSP00000374552:E833Q	E	-	1	0	RNF216	5629292	0.987000	0.35691	0.951000	0.38953	0.092000	0.18411	2.730000	0.47335	2.545000	0.85829	0.561000	0.74099	GAG		0.577	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1		NM_207111		23	66	0	0	0	0.099896	0	23	66		
RNF216	54476	broad.mit.edu	37	7	5663694	5663694	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:5663694C>A	ENST00000425013.2	-	16	2498	c.2274G>T	c.(2272-2274)aaG>aaT	p.K758N	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.K815N	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	758					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K815N(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCCTCCATTCTTTCTTTTCT	0.537																																						uc003soy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(2)	5						c.(2272-2274)AAG>AAT		ring finger protein 216 isoform b							119.0	115.0	117.0					7																	5663694		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5663694C>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2274G>T	7.37:g.5663694C>A	ENSP00000404602:p.Lys758Asn					RNF216_uc010ksz.1_Missense_Mutation_p.K380N|RNF216_uc010kta.1_Missense_Mutation_p.K380N|RNF216_uc011jwj.1_Missense_Mutation_p.K380N|RNF216_uc003sox.1_Missense_Mutation_p.K815N	p.K758N	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	16	2464	-		Ovarian(82;0.07)	758			Potential.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2274G>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499358	0.64298	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.50813	0.73;0.73	5.35	3.14	0.36123	.	0.054168	0.64402	D	0.000001	T	0.56775	0.2008	L	0.50333	1.59	0.34385	D	0.693544	D;D	0.89917	0.998;1.0	D;D	0.76575	0.962;0.988	T	0.65352	-0.6189	10	0.45353	T	0.12	-24.7938	7.7634	0.28965	0.0:0.7018:0.0:0.2982	.	758;815	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	N	758;815;570	ENSP00000404602:K758N;ENSP00000374552:K815N	ENSP00000374552:K815N	K	-	3	2	RNF216	5630220	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.517000	0.22832	1.393000	0.46605	0.563000	0.77884	AAG		0.537	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1		NM_207111		10	21	1	0	7.48243e-07	0.058154	7.57557e-07	10	21		
RNF216	54476	broad.mit.edu	37	7	5663714	5663714	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:5663714C>T	ENST00000425013.2	-	16	2478	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.E809K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	752					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E809K(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGTTCCTCTTCAGCCTCCTTC	0.547																																						uc003soy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(2)	5						c.(2254-2256)GAA>AAA		ring finger protein 216 isoform b							128.0	123.0	125.0					7																	5663714		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5663714C>T	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2254G>A	7.37:g.5663714C>T	ENSP00000404602:p.Glu752Lys					RNF216_uc010ksz.1_Missense_Mutation_p.E374K|RNF216_uc010kta.1_Missense_Mutation_p.E374K|RNF216_uc011jwj.1_Missense_Mutation_p.E374K|RNF216_uc003sox.1_Missense_Mutation_p.E809K	p.E752K	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	16	2444	-		Ovarian(82;0.07)	752			Potential.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2254G>A	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639693	0.87760	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.51325	0.71;0.71	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	L	0.55481	1.735	0.53005	D	0.999968	P;D	0.55800	0.942;0.973	P;P	0.49421	0.526;0.61	T	0.54166	-0.8334	10	0.45353	T	0.12	-19.0684	18.3963	0.90499	0.0:1.0:0.0:0.0	.	752;809	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	K	752;809;564	ENSP00000404602:E752K;ENSP00000374552:E809K	ENSP00000374552:E809K	E	-	1	0	RNF216	5630240	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.584000	0.67490	2.665000	0.90641	0.563000	0.77884	GAA		0.547	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1		NM_207111		9	21	0	0	0	0.047766	0	9	21		
HDAC9	9734	broad.mit.edu	37	7	18975511	18975511	+	Silent	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:18975511C>G	ENST00000432645.2	+	22	2874	c.2874C>G	c.(2872-2874)ctC>ctG	p.L958L	HDAC9_ENST00000406451.4_Silent_p.L958L|HDAC9_ENST00000401921.1_Silent_p.L917L|HDAC9_ENST00000441542.2_Silent_p.L961L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	958	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L961L(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GACATGATCTCACAGCCATCT	0.433																																						uc003suh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2872-2874)CTC>CTG		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						203.0	198.0	199.0					7																	18975511		1949	4152	6101	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18975511C>G	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2874C>G	7.37:g.18975511C>G						HDAC9_uc003sue.2_Silent_p.L958L|HDAC9_uc003sui.2_Silent_p.L961L|HDAC9_uc003suj.2_Silent_p.L917L|HDAC9_uc003suk.2_Silent_p.L206L	p.L958L	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			22	2915	+	all_lung(11;0.187)		958			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.2874C>G	CCDS47555.1																																																																																				0.433	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1				68	143	0	0	0	0.048971	0	68	143		
CDCA7L	55536	broad.mit.edu	37	7	21945945	21945945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:21945945C>A	ENST00000406877.3	-	6	1162	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	CDCA7L_ENST00000356195.5_Nonsense_Mutation_p.E261*|CDCA7L_ENST00000373934.4_Nonsense_Mutation_p.E249*|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	295					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E295*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TAAAACTCTTCCGCAAATTTA	0.483																																						uc010kuk.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(883-885)GAA>TAA		cell division cycle associated 7-like isoform 1							77.0	86.0	83.0					7																	21945945		2203	4300	6503	SO:0001587	stop_gained	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21945945C>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.883G>T	7.37:g.21945945C>A	ENSP00000383986:p.Glu295*					CDCA7L_uc003sve.3_Nonsense_Mutation_p.E261*|CDCA7L_uc010kul.2_Nonsense_Mutation_p.E249*|CDCA7L_uc003svf.3_Nonsense_Mutation_p.E294*	p.E295*	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN			6	1003	-			295					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Nonsense_Mutation	SNP	ENST00000406877.3	37	c.883G>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	41	8.749941	0.98939	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	.	.	.	5.99	5.99	0.97316	.	0.099187	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.9017	20.4777	0.99188	0.0:1.0:0.0:0.0	.	.	.	.	X	261;295;249	.	ENSP00000348523:E261X	E	-	1	0	CDCA7L	21912470	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.359000	0.66074	2.840000	0.97914	0.655000	0.94253	GAA		0.483	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4		NM_018719		54	145	1	0	1.14385e-22	0.048971	1.23496e-22	54	145		
MAGI2	9863	broad.mit.edu	37	7	77885323	77885323	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:77885323C>T	ENST00000354212.4	-	10	2237	c.1984G>A	c.(1984-1986)Gta>Ata	p.V662I	MAGI2_ENST00000522391.1_Missense_Mutation_p.V662I|MAGI2_ENST00000419488.1_Missense_Mutation_p.V662I|MAGI2_ENST00000536571.1_Missense_Mutation_p.V494I|MAGI2_ENST00000535697.1_Missense_Mutation_p.V499I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	662	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.V662I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATATCCACTACTTCTGTATGG	0.438																																						uc003ugx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(1984-1986)GTA>ATA		membrane associated guanylate kinase, WW and PDZ							69.0	59.0	63.0					7																	77885323		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885323C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1984G>A	7.37:g.77885323C>T	ENSP00000346151:p.Val662Ile					MAGI2_uc003ugy.2_Missense_Mutation_p.V662I|MAGI2_uc010ldx.1_Missense_Mutation_p.V271I|MAGI2_uc010ldy.1_Missense_Mutation_p.V271I|MAGI2_uc011kgr.1_Missense_Mutation_p.V494I|MAGI2_uc011kgs.1_Missense_Mutation_p.V499I	p.V662I	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			10	2238	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	662			PDZ 3.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1984G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661216	0.88154	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.000000	0.32970	U	0.005427	T	0.69922	0.3165	M	0.73319	2.225	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.725;0.998;0.998;1.0;0.997	D;P;D;D;D;D	0.91635	0.999;0.639;0.996;0.996;0.999;0.992	T	0.71768	-0.4493	10	0.87932	D	0	.	18.9145	0.92499	0.0:1.0:0.0:0.0	.	499;494;662;662;662;662	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	I	662;662;662;662;494;499	ENSP00000405766:V662I;ENSP00000346151:V662I;ENSP00000428389:V662I;ENSP00000441584:V494I;ENSP00000441603:V499I	ENSP00000346151:V662I	V	-	1	0	MAGI2	77723259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.700000	0.92200	0.561000	0.74099	GTA		0.438	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3		NM_012301		12	26	0	0	0	0.080935	0	12	26		
ZKSCAN1	7586	broad.mit.edu	37	7	99621928	99621928	+	Missense_Mutation	SNP	G	G	A	rs148037051	byFrequency	TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:99621928G>A	ENST00000324306.6	+	3	812	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R157Q|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R193Q(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTACAGTCACGAGGTAAGAAG	0.512													G|||	3	0.000599042	0.0015	0.0	5008	,	,		18560	0.001		0.0	False		,,,				2504	0.0					uc003usk.1		NaN																	2	Substitution - Missense(2)	p.R193Q(1)	urinary_tract(1)|ovary(1)	ovary(3)	3						c.(577-579)CGA>CAA		zinc finger protein 36		G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	59.0	53.0	55.0		578	2.5	0.5	7	dbSNP_134	55	0,8600		0,0,4300	yes	missense	ZKSCAN1	NM_003439.1	43	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	193/564	99621928	4,13002	2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99621928G>A	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.578G>A	7.37:g.99621928G>A	ENSP00000323148:p.Arg193Gln					ZKSCAN1_uc003usj.2_Missense_Mutation_p.R192Q|ZKSCAN1_uc003usl.1_Missense_Mutation_p.R157Q|ZKSCAN1_uc003usm.1_Intron	p.R193Q	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		3	797	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		193					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.578G>A	CCDS34698.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	13.96	2.391957	0.42410	9.08E-4	0.0	ENSG00000106261	ENST00000324306;ENST00000426572	T;T	0.06608	3.32;3.28	4.51	2.46	0.29980	.	0.179711	0.26875	N	0.022049	T	0.03263	0.0095	N	0.08118	0	0.20307	N	0.999913	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40979	-0.9534	10	0.42905	T	0.14	.	7.5794	0.27955	0.1895:0.0:0.8105:0.0	.	193;157	P17029;E9PC66	ZKSC1_HUMAN;.	Q	193;157	ENSP00000323148:R193Q;ENSP00000409172:R157Q	ENSP00000323148:R193Q	R	+	2	0	ZKSCAN1	99459864	0.277000	0.24220	0.524000	0.27887	0.964000	0.63967	1.331000	0.33793	0.391000	0.25143	0.491000	0.48974	CGA		0.512	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2		NM_003439		14	37	0	0	0	0.028581	0	14	37		
AGFG2	3268	broad.mit.edu	37	7	100151098	100151098	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:100151098C>G	ENST00000300176.4	+	4	682	c.560C>G	c.(559-561)tCa>tGa	p.S187*	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	187					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S187*(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGTCTCTCTCAGTTGCTGCC	0.542																																						uc003uvf.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(1)|lung(1)	central_nervous_system(1)	1						c.(559-561)TCA>TGA		ArfGAP with FG repeats 2							94.0	81.0	85.0					7																	100151098		2203	4300	6503	SO:0001587	stop_gained	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100151098C>G	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.560C>G	7.37:g.100151098C>G	ENSP00000300176:p.Ser187*					AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Missense_Mutation_p.Q49E	p.S187*	NM_006076	NP_006067	O95081	AGFG2_HUMAN			4	696	+			187					O75429|Q96AB9|Q96GL4	Nonsense_Mutation	SNP	ENST00000300176.4	37	c.560C>G	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689495	0.88735	.	.	ENSG00000106351	ENST00000300176	.	.	.	4.5	4.5	0.54988	.	0.450410	0.24309	N	0.039641	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-18.9601	13.0835	0.59127	0.0:1.0:0.0:0.0	.	.	.	.	X	187	.	ENSP00000300176:S187X	S	+	2	0	AGFG2	99989034	0.552000	0.26505	0.969000	0.41365	0.801000	0.45260	2.830000	0.48136	2.817000	0.96982	0.644000	0.83932	TCA		0.542	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1		NM_006076		32	102	0	0	0	0.064281	0	32	102		
GPR37	2861	broad.mit.edu	37	7	124404704	124404704	+	Silent	SNP	G	G	T	rs376765252		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:124404704G>T	ENST00000303921.2	-	1	977	c.327C>A	c.(325-327)ccC>ccA	p.P109P		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	109					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.P109P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGGTCCCGGGGGTCCGGCTG	0.726																																						uc003vli.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(325-327)CCC>CCA		G protein-coupled receptor 37 precursor							19.0	24.0	23.0					7																	124404704		2135	4216	6351	SO:0001819	synonymous_variant	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404704G>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.327C>A	7.37:g.124404704G>T							p.P109P	NM_005302	NP_005293	O15354	GPR37_HUMAN			1	978	-			109			Extracellular (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	c.327C>A	CCDS5792.1																																																																																				0.726	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1		NM_005302		24	48	1	0	1.66031e-10	0.0918	1.72389e-10	24	48		
STRA8	346673	broad.mit.edu	37	7	134927560	134927560	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:134927560C>A	ENST00000275764.3	+	3	286	c.286C>A	c.(286-288)Cat>Aat	p.H96N		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.H96N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						GGCAAAGAGTCATATTCCAGA	0.483																																						uc011kpx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(286-288)CAT>AAT		STRA8							109.0	108.0	108.0					7																	134927560		2203	4300	6503	SO:0001583	missense	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134927560C>A	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.286C>A	7.37:g.134927560C>A	ENSP00000275764:p.His96Asn						p.H96N	NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN			3	286	+			96			Potential.			Missense_Mutation	SNP	ENST00000275764.3	37	c.286C>A	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	C	4.711	0.132120	0.08981	.	.	ENSG00000146857	ENST00000275764	D	0.97665	-4.48	5.14	2.38	0.29361	Helix-loop-helix DNA-binding (1);	0.761307	0.12230	N	0.487504	D	0.92906	0.7743	L	0.29908	0.895	0.09310	N	1	B	0.25609	0.13	B	0.25759	0.063	D	0.85488	0.1183	10	0.42905	T	0.14	-3.7917	7.4571	0.27272	0.0:0.5163:0.0:0.4837	.	96	Q7Z7C7	STRA8_HUMAN	N	96	ENSP00000275764:H96N	ENSP00000275764:H96N	H	+	1	0	STRA8	134578100	0.001000	0.12720	0.001000	0.08648	0.038000	0.13279	1.172000	0.31908	0.211000	0.20683	-0.463000	0.05309	CAT		0.483	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1		NM_182489		20	71	1	0	2.94398e-08	0.043863	3.03094e-08	20	71		
TBXAS1	6916	broad.mit.edu	37	7	139655334	139655334	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:139655334G>A	ENST00000336425.5	+	11	1005	c.616G>A	c.(616-618)Gag>Aag	p.E206K	TBXAS1_ENST00000411653.1_Missense_Mutation_p.E206K|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E207K|TBXAS1_ENST00000263552.6_Missense_Mutation_p.E207K|TBXAS1_ENST00000448866.1_Missense_Mutation_p.E206K|TBXAS1_ENST00000416849.2_Missense_Mutation_p.E253K|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E252K|TBXAS1_ENST00000425687.1_Missense_Mutation_p.E139K|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E207K			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	206					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.E207K(1)|p.E253K(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GCAGGCCCCTGAGGATCCCTT	0.577																																						uc011kqv.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|breast(1)	3						c.(757-759)GAG>AAG		thromboxane A synthase 1, platelet isoform							77.0	81.0	80.0					7																	139655334		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139655334G>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.616G>A	7.37:g.139655334G>A	ENSP00000338087:p.Glu206Lys					TBXAS1_uc003vvh.2_Missense_Mutation_p.E207K|TBXAS1_uc010lne.2_Missense_Mutation_p.E139K|TBXAS1_uc011kqu.1_Missense_Mutation_p.E158K|TBXAS1_uc003vvi.2_Missense_Mutation_p.E207K|TBXAS1_uc003vvj.2_Missense_Mutation_p.E207K|TBXAS1_uc011kqw.1_Missense_Mutation_p.E187K	p.E253K	NM_001130966	NP_001124438	P24557	THAS_HUMAN			8	921	+	Melanoma(164;0.0142)		206			Cytoplasmic (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.757G>A		.	.	.	.	.	.	.	.	.	.	G	10.50	1.366460	0.24771	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.91	4.08	0.47627	.	0.314686	0.37348	N	0.002123	T	0.63616	0.2526	L	0.33792	1.035	0.48395	D	0.999642	B;P;B;P;B;B;B	0.48998	0.067;0.908;0.073;0.918;0.113;0.1;0.045	B;P;B;P;B;B;B	0.56563	0.16;0.801;0.105;0.524;0.178;0.063;0.029	T	0.56950	-0.7894	10	0.15952	T	0.53	.	8.5471	0.33429	0.1361:0.1281:0.7358:0.0	.	187;253;158;139;207;207;206	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	K	139;207;206;253;207;207;206;252;206	ENSP00000388736:E139K;ENSP00000263552:E207K;ENSP00000338087:E206K;ENSP00000389414:E253K;ENSP00000392361:E207K;ENSP00000392702:E207K;ENSP00000402536:E206K;ENSP00000411274:E252K;ENSP00000411326:E206K	ENSP00000263552:E207K	E	+	1	0	TBXAS1	139301803	1.000000	0.71417	0.008000	0.14137	0.097000	0.18754	4.004000	0.57068	0.809000	0.34255	0.655000	0.94253	GAG		0.577	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1				50	124	0	0	0	0.048971	0	50	124		
EPHA1	2041	broad.mit.edu	37	7	143096402	143096402	+	Missense_Mutation	SNP	C	C	T	rs538968659		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:143096402C>T	ENST00000275815.3	-	5	1026	c.940G>A	c.(940-942)Gag>Aag	p.E314K		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	314	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.E314K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGGCCGCTCTCACAGGTACAG	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13549	0.0		0.0	False		,,,				2504	0.0					uc003wcz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|lung(1)|breast(1)	5						c.(940-942)GAG>AAG		ephrin receptor EphA1 precursor							38.0	43.0	41.0					7																	143096402		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096402C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.940G>A	7.37:g.143096402C>T	ENSP00000275815:p.Glu314Lys						p.E314K	NM_005232	NP_005223	P21709	EPHA1_HUMAN			5	1027	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	314			Extracellular (Potential).|Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.940G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	9.026	0.986161	0.18889	.	.	ENSG00000146904	ENST00000275815	D	0.97378	-4.36	5.2	3.4	0.38934	Growth factor, receptor (1);	0.792972	0.11506	N	0.557212	D	0.94656	0.8277	L	0.53671	1.685	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	D	0.89386	0.3685	10	0.72032	D	0.01	.	6.749	0.23477	0.0:0.564:0.2775:0.1584	.	314	P21709	EPHA1_HUMAN	K	314	ENSP00000275815:E314K	ENSP00000275815:E314K	E	-	1	0	EPHA1	142806524	0.012000	0.17670	0.777000	0.31699	0.038000	0.13279	0.098000	0.15189	0.758000	0.33059	0.650000	0.86243	GAG		0.657	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1				47	87	0	0	0	0.039052	0	47	87		
EPHA1	2041	broad.mit.edu	37	7	143096426	143096426	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:143096426C>T	ENST00000275815.3	-	5	1002	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	306	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.E306*(4)|p.E306K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTGGCCCCCTCAGACTCAGCA	0.657																																						uc003wcz.2		NaN																	6	Substitution - Nonsense(4)|Substitution - Missense(2)		lung(4)|urinary_tract(2)	ovary(3)|lung(1)|breast(1)	5						c.(916-918)GAG>AAG		ephrin receptor EphA1 precursor							40.0	41.0	41.0					7																	143096426		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096426C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.916G>A	7.37:g.143096426C>T	ENSP00000275815:p.Glu306Lys						p.E306K	NM_005232	NP_005223	P21709	EPHA1_HUMAN			5	1003	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	306			Extracellular (Potential).|Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.916G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	8.241	0.806916	0.16467	.	.	ENSG00000146904	ENST00000275815	D	0.97378	-4.36	5.21	2.47	0.30058	Growth factor, receptor (1);	0.839949	0.10554	N	0.661011	D	0.95236	0.8455	M	0.82323	2.585	0.09310	N	1	B	0.28760	0.221	B	0.16289	0.015	D	0.89920	0.4058	10	0.87932	D	0	.	2.7556	0.05292	0.1331:0.5314:0.1166:0.2189	.	306	P21709	EPHA1_HUMAN	K	306	ENSP00000275815:E306K	ENSP00000275815:E306K	E	-	1	0	EPHA1	142806548	0.140000	0.22579	0.207000	0.23584	0.001000	0.01503	1.022000	0.30052	0.360000	0.24265	-0.806000	0.03193	GAG		0.657	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1				32	75	0	0	0	0.045705	0	32	75		
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458																																						uc010lpg.2		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|lung(1)|central_nervous_system(1)	lung(1)	1						c.(1453-1455)GAA>AAA		cullin 1							80.0	73.0	76.0					7																	148484186		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148484186G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1453G>A	7.37:g.148484186G>A	ENSP00000326804:p.Glu485Lys					CUL1_uc003wey.2_Missense_Mutation_p.E485K|CUL1_uc003wez.2_Missense_Mutation_p.E375K|CUL1_uc003wfa.2_Missense_Mutation_p.E146K	p.E485K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		13	1979	+	Melanoma(164;0.15)		485					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1453G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288263	0.95517	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.86865	-2.18;-2.18	5.5	5.5	0.81552	Cullin, N-terminal (1);Cullin homology (3);	0.047140	0.85682	D	0.000000	D	0.95847	0.8648	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.96814	0.9599	10	0.87932	D	0	-0.8542	19.4118	0.94677	0.0:0.0:1.0:0.0	.	412;485	E7EWR0;Q13616	.;CUL1_HUMAN	K	485;485;443;412	ENSP00000387160:E485K;ENSP00000326804:E485K	ENSP00000326804:E485K	E	+	1	0	CUL1	148115119	1.000000	0.71417	0.913000	0.36048	0.576000	0.36127	9.497000	0.97970	2.595000	0.87683	0.655000	0.94253	GAA		0.458	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1		NM_003592		21	54	0	0	0	0.069288	0	21	54		
SSPO	23145	broad.mit.edu	37	7	149512401	149512401	+	RNA	SNP	C	C	T	rs577730740		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:149512401C>T	ENST00000378016.2	+	0	10721							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCAGCTCTCCCAGGACGGG	0.721													C|||	1	0.000199681	0.0	0.0	5008	,	,		13490	0.001		0.0	False		,,,				2504	0.0					uc010lpk.2		NaN																	0					0						c.(10720-10722)TCC>TTC		SCO-spondin precursor							12.0	16.0	15.0					7																	149512401		1926	4136	6062			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149512401C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149512401C>T							p.S3574F	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		76	10721	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3574					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.10721C>T																																																																																					0.721	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					6	17	0	0	0	0.021553	0	6	17		
KMT2C	58508	broad.mit.edu	37	7	151855998	151855998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:151855998C>A	ENST00000262189.6	-	44	11838	c.11620G>T	c.(11620-11622)Gag>Tag	p.E3874*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E3874*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3874					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E3874*(2)									GCTTGTTTCTCCTCTTCGTCC	0.458																																						uc003wla.2		NaN								N							medulloblastoma		2	Substitution - Nonsense(2)		urinary_tract(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(11620-11622)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 3							400.0	364.0	376.0					7																	151855998		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151855998C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11620G>T	7.37:g.151855998C>A	ENSP00000262189:p.Glu3874*					MLL3_uc003wkz.2_Nonsense_Mutation_p.E2935*|MLL3_uc003wkx.2_5'Flank|MLL3_uc003wky.2_Nonsense_Mutation_p.E1383*	p.E3874*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	44	11839	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3874					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.11620G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	54|54	22.340091|22.340091	0.99947|0.99947	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.43919|.	U|.	0.000503|.	.|T	.|0.71592	.|0.3358	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69209	.|-0.5205	.|4	0.39692|.	T|.	0.17|.	.|.	15.3824|15.3824	0.74669|0.74669	0.0:0.8612:0.1388:0.0|0.0:0.8612:0.1388:0.0	.|.	.|.	.|.	.|.	X|V	3874;3874;460|1379	.|.	ENSP00000262189:E3874X|.	E|G	-|-	1|2	0|0	MLL3|MLL3	151486931|151486931	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	3.806000|3.806000	0.55583|0.55583	2.777000|2.777000	0.95525|0.95525	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				102	276	1	0	2.43152e-32	0.048971	2.66049e-32	102	276		
HNF4G	3174	broad.mit.edu	37	8	76465276	76465276	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:76465276G>A	ENST00000354370.1	+	6	618		c.e6-1		HNF4G_ENST00000396423.2_Splice_Site			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTTAATACTAGATCTCAGTCT	0.348																																						uc003yaq.2		NaN																	2	Unknown(2)		urinary_tract(2)	ovary(1)	1						c.e6-1		hepatocyte nuclear factor 4, gamma							66.0	62.0	63.0					8																	76465276		2203	4300	6503	SO:0001630	splice_region_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76465276G>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.349-1G>A	8.37:g.76465276G>A						HNF4G_uc003yar.2_Splice_Site_p.I154_splice	p.I117_splice	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		6	619	+	Breast(64;0.0448)							Q7Z2V9|Q9UH81|Q9UIS6	Splice_Site	SNP	ENST00000354370.1	37	c.349_splice		.	.	.	.	.	.	.	.	.	.	G	17.82	3.482786	0.63962	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0716	0.93140	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HNF4G	76627831	1.000000	0.71417	0.998000	0.56505	0.700000	0.40528	8.806000	0.91930	2.805000	0.96524	0.655000	0.94253	.		0.348	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2		NM_004133	Intron	18	67	0	0	0	0.049695	0	18	67		
VPS13B	157680	broad.mit.edu	37	8	100403871	100403871	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:100403871G>A	ENST00000358544.2	+	21	3132	c.3021G>A	c.(3019-3021)aaG>aaA	p.K1007K	VPS13B_ENST00000395996.1_Silent_p.K1007K|VPS13B_ENST00000357162.2_Silent_p.K1007K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1007					protein transport (GO:0015031)			p.K1007K(2)		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)			CCTTGGCAAAGCAGCAATCAT	0.453																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(3019-3021)AAG>AAA		vacuolar protein sorting 13B isoform 5							108.0	104.0	105.0					8																	100403871		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100403871G>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.3021G>A	8.37:g.100403871G>A						VPS13B_uc003yiw.2_Silent_p.K1007K|VPS13B_uc003yiu.1_Silent_p.K1007K|VPS13B_uc003yix.1_Silent_p.K477K	p.K1007K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		21	3132	+	Breast(36;3.73e-07)		1007					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.3021G>A	CCDS6280.1																																																																																				0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		18	103	0	0	0	0.043863	0	18	103		
TSNARE1	203062	broad.mit.edu	37	8	143436064	143436064	+	Missense_Mutation	SNP	G	G	A	rs557067615		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:143436064G>A	ENST00000307180.3	-	2	139	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C	TSNARE1_ENST00000524325.1_Missense_Mutation_p.R8C|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R8C|TSNARE1_ENST00000519651.1_Missense_Mutation_p.R8C	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	8					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.R8C(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCACCTCCACGGGCGATGGAT	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15160	0.0		0.0	False		,,,				2504	0.0					uc003ywk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(22-24)CGT>TGT		t-SNARE domain containing 1							43.0	41.0	42.0					8																	143436064		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143436064G>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.22C>T	8.37:g.143436064G>A	ENSP00000303437:p.Arg8Cys					TSNARE1_uc011lju.1_Missense_Mutation_p.R8C|TSNARE1_uc003ywj.2_Missense_Mutation_p.R8C|TSNARE1_uc003ywl.3_Missense_Mutation_p.R8C	p.R8C	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			2	140	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		8					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.22C>T	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	G	7.894	0.733023	0.15507	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651;ENST00000520462;ENST00000518720	T;T;T;T;T;T	0.33654	2.69;2.69;2.69;1.4;1.81;1.79	3.47	1.45	0.22620	.	.	.	.	.	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B;B;B;B	0.33904	0.431;0.431;0.431;0.431	B;B;B;B	0.24974	0.057;0.057;0.057;0.057	T	0.14699	-1.0463	9	0.62326	D	0.03	1.3415	3.3182	0.07040	0.0:0.5181:0.2795:0.2024	.	8;8;8;8	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	C	8;8;8;8;8;24	ENSP00000428763:R8C;ENSP00000303437:R8C;ENSP00000427770:R8C;ENSP00000429679:R8C;ENSP00000429626:R8C;ENSP00000430789:R24C	ENSP00000303437:R8C	R	-	1	0	TSNARE1	143433971	0.002000	0.14202	0.002000	0.10522	0.332000	0.28634	0.165000	0.16564	0.157000	0.19338	-0.232000	0.12228	CGT		0.612	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_145003		25	135	0	0	0	0.0918	0	25	135		
ZNF517	340385	broad.mit.edu	37	8	146033636	146033636	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:146033636C>T	ENST00000531720.1	+	4	1380	c.1335C>T	c.(1333-1335)ctC>ctT	p.L445L	ZNF517_ENST00000359971.3_Silent_p.L445L|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L445L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			ACTACCGGCTCCACAGCGGCG	0.682																																						uc003zed.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1333-1335)CTC>CTT		zinc finger protein 517							20.0	22.0	21.0					8																	146033636		2201	4299	6500	SO:0001819	synonymous_variant	340385				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146033636C>T	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1335C>T	8.37:g.146033636C>T						ZNF517_uc010mgd.1_Silent_p.L351L|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.L351L|ZNF517_uc003zef.1_Intron	p.L445L	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		5	1442	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		445			C2H2-type 9.			Silent	SNP	ENST00000531720.1	37	c.1335C>T	CCDS6434.1	.	.	.	.	.	.	.	.	.	.	C	6.725	0.502470	0.12822	.	.	ENSG00000197363	ENST00000529429	.	.	.	2.53	-2.16	0.07080	.	.	.	.	.	T	0.53270	0.1786	.	.	.	0.37203	D	0.904463	.	.	.	.	.	.	T	0.51196	-0.8736	4	.	.	.	.	8.9247	0.35632	0.0:0.5154:0.3812:0.1034	.	.	.	.	F	412	.	.	S	+	2	0	ZNF517	146004440	0.000000	0.05858	0.477000	0.27303	0.880000	0.50808	-4.719000	0.00194	-0.907000	0.03862	-1.268000	0.01426	TCC		0.682	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1		XM_291261		11	13	0	0	0	0.016723	0	11	13		
FOCAD	54914	broad.mit.edu	37	9	20720513	20720513	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:20720513C>T	ENST00000380249.1	+	6	631	c.267C>T	c.(265-267)ctC>ctT	p.L89L	FOCAD_ENST00000338382.6_Silent_p.L89L	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	89						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.L89L(1)									ATGGGATACTCAACTTGATTC	0.408																																						uc003zog.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(8)|breast(1)|kidney(1)	10						c.(265-267)CTC>CTT		hypothetical protein LOC54914							330.0	278.0	296.0					9																	20720513		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20720513C>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.267C>T	9.37:g.20720513C>T							p.L89L	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	6	630	+			89					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.267C>T	CCDS34993.1																																																																																				0.408	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1		NM_017794		92	101	0	0	0	0.048971	0	92	101		
GBA2	57704	broad.mit.edu	37	9	35752111	35752111	+	5'Flank	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:35752111C>T	ENST00000378103.3	-	0	0				MSMP_ENST00000414286.1_5'Flank|RGP1_ENST00000456972.2_Silent_p.L347L|GBA2_ENST00000378094.4_5'Flank|GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000378078.4_Silent_p.L307L	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.L307L(1)|p.L347L(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAATCCCTCTCAGCTCCACCC	0.567																																						uc011lpf.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(919-921)CTC>CTT		RGP1 retrograde golgi transport homolog							79.0	79.0	79.0					9																	35752111		1948	4146	6094	SO:0001631	upstream_gene_variant	9827							g.chr9:35752111C>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35752111C>T	Exception_encountered					GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Silent_p.L347L	p.L307L	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		8	1062	+	all_epithelial(49;0.167)		307					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.921C>T	CCDS6589.1																																																																																				0.567	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1		NM_020944		24	16	0	0	0	0.099896	0	24	16		
MSMP	692094	broad.mit.edu	37	9	35752709	35752709	+	IGR	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:35752709C>G	ENST00000436428.2	-	0	670				MSMP_ENST00000414286.1_5'Flank|RGP1_ENST00000456972.2_Silent_p.L378L|GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000378078.4_Silent_p.L338L	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated							cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.L338L(1)|p.L378L(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						GATTGGTACTCCTACCCCCTG	0.498																																						uc011lpf.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(1012-1014)CTC>CTG		RGP1 retrograde golgi transport homolog							76.0	72.0	73.0					9																	35752709		1954	4138	6092	SO:0001628	intergenic_variant	9827							g.chr9:35752709C>G	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882		9.37:g.35752709C>G						GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Silent_p.L378L	p.L338L	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	1155	+	all_epithelial(49;0.167)		338						Silent	SNP	ENST00000436428.2	37	c.1014C>G	CCDS43797.1																																																																																				0.498	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2		NM_001044264		22	20	0	0	0	0.083992	0	22	20		
ZNF189	7743	broad.mit.edu	37	9	104170392	104170392	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:104170392C>G	ENST00000339664.2	+	3	471	c.342C>G	c.(340-342)ttC>ttG	p.F114L	ZNF189_ENST00000259395.4_Missense_Mutation_p.F72L|ZNF189_ENST00000374861.3_Missense_Mutation_p.F100L	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	114					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F114L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGGATCTTCCTATGGGAAA	0.378																																						uc004bbh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(340-342)TTC>TTG		zinc finger protein 189 isoform 1							74.0	71.0	72.0					9																	104170392		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170392C>G	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.342C>G	9.37:g.104170392C>G	ENSP00000342019:p.Phe114Leu					ZNF189_uc004bbg.1_Missense_Mutation_p.F72L|ZNF189_uc004bbi.1_Missense_Mutation_p.F100L|ZNF189_uc011lvk.1_Missense_Mutation_p.F99L	p.F114L	NM_003452	NP_003443	O75820	ZN189_HUMAN			3	618	+		Acute lymphoblastic leukemia(62;0.0559)	114					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.342C>G	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	C	4.219	0.039478	0.08148	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.05025	3.58;3.58;3.51	4.66	2.8	0.32819	.	0.129601	0.36034	N	0.002836	T	0.02807	0.0084	N	0.03983	-0.305	0.29053	N	0.884393	B;B;B	0.25390	0.041;0.125;0.0	B;B;B	0.22601	0.015;0.04;0.001	T	0.27297	-1.0078	10	0.59425	D	0.04	.	7.0084	0.24849	0.0:0.7242:0.0:0.2758	.	99;100;114	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	L	100;114;72	ENSP00000363995:F100L;ENSP00000342019:F114L;ENSP00000259395:F72L	ENSP00000259395:F72L	F	+	3	2	ZNF189	103210213	0.000000	0.05858	1.000000	0.80357	0.948000	0.59901	0.045000	0.14013	0.877000	0.35895	0.563000	0.77884	TTC		0.378	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1		NM_003452		22	16	0	0	0	0.055883	0	22	16		
PHF19	26147	broad.mit.edu	37	9	123620306	123620306	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:123620306C>T	ENST00000373896.3	-	15	1911	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	PHF19_ENST00000419155.1_Silent_p.E344E|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	553					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E553E(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGGTACTTCTCCCCACAGG	0.572																																						uc004bks.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(1657-1659)GAG>GAA		PHD finger protein 19 isoform a							120.0	105.0	111.0					9																	123620306		2203	4300	6503	SO:0001819	synonymous_variant	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123620306C>T	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1659G>A	9.37:g.123620306C>T						PHF19_uc011lyf.1_Silent_p.E344E|PHF19_uc004bkr.2_RNA	p.E553E	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN			15	1912	-			553					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Silent	SNP	ENST00000373896.3	37	c.1659G>A	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	C	9.375	1.071428	0.20147	.	.	ENSG00000119403	ENST00000544082	.	.	.	5.12	1.75	0.24633	.	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67280	-0.5710	6	0.87932	D	0	-26.8162	10.0268	0.42076	0.0:0.72:0.0:0.28	.	.	.	.	K	553	.	ENSP00000443241:E553K	E	-	1	0	PHF19	122660127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.310000	0.51911	0.546000	0.28920	0.561000	0.74099	GAA		0.572	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3		XM_045308		53	36	0	0	0	0.048971	0	53	36		
SNAPC4	6621	broad.mit.edu	37	9	139273744	139273744	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:139273744G>C	ENST00000298532.2	-	21	2903	c.2535C>G	c.(2533-2535)ctC>ctG	p.L845L		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.L845L(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTTTGGGAAGAGGTGGCCTG	0.637																																						uc004chh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2533-2535)CTC>CTG		small nuclear RNA activating complex,							16.0	21.0	19.0					9																	139273744		2052	4176	6228	SO:0001819	synonymous_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139273744G>C	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2535C>G	9.37:g.139273744G>C							p.L845L	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	2544	-		Myeloproliferative disorder(178;0.0511)	845						Silent	SNP	ENST00000298532.2	37	c.2535C>G	CCDS6998.1																																																																																				0.637	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1		NM_003086		13	17	0	0	0	0.09319	0	13	17		
RBM10	8241	broad.mit.edu	37	X	47041369	47041369	+	Silent	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:47041369C>G	ENST00000377604.3	+	16	2455	c.1713C>G	c.(1711-1713)acC>acG	p.T571T	RBM10_ENST00000345781.6_Silent_p.T494T|RBM10_ENST00000329236.7_Silent_p.T493T	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	571	Tyr-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.T571T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACGTCTCTACCTACCAGTACG	0.582																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(1711-1713)ACC>ACG		RNA binding motif protein 10 isoform 1							101.0	83.0	89.0					X																	47041369		2203	4300	6503	SO:0001819	synonymous_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47041369C>G	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1713C>G	X.37:g.47041369C>G						RBM10_uc004dhg.2_Silent_p.T493T|RBM10_uc004dhh.2_Silent_p.T570T|RBM10_uc010nhq.2_Silent_p.T494T|RBM10_uc004dhi.2_Silent_p.T636T	p.T571T	NM_005676	NP_005667	P98175	RBM10_HUMAN			16	2092	+			571			Tyr-rich.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	c.1713C>G	CCDS14274.1																																																																																				0.582	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1		NM_005676		30	21	0	0	0	0.034045	0	30	21		
RBM10	8241	broad.mit.edu	37	X	47045533	47045533	+	Nonsense_Mutation	SNP	A	A	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:47045533A>T	ENST00000377604.3	+	22	3242	c.2500A>T	c.(2500-2502)Aag>Tag	p.K834*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.K757*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.K756*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	834					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.K834*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCCAGAGCCCAAGAGGAGGAA	0.607																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(2500-2502)AAG>TAG		RNA binding motif protein 10 isoform 1							41.0	39.0	39.0					X																	47045533		2203	4298	6501	SO:0001587	stop_gained	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47045533A>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2500A>T	X.37:g.47045533A>T	ENSP00000366829:p.Lys834*					RBM10_uc004dhg.2_Nonsense_Mutation_p.K756*|RBM10_uc004dhh.2_Nonsense_Mutation_p.K833*|RBM10_uc010nhq.2_Nonsense_Mutation_p.K757*|RBM10_uc004dhi.2_Nonsense_Mutation_p.K899*	p.K834*	NM_005676	NP_005667	P98175	RBM10_HUMAN			22	2879	+			834					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Nonsense_Mutation	SNP	ENST00000377604.3	37	c.2500A>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	A	41	8.837446	0.98972	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.0404	12.9892	0.58608	1.0:0.0:0.0:0.0	.	.	.	.	X	834;756;757	.	ENSP00000328848:K756X	K	+	1	0	RBM10	46930477	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	7.221000	0.78016	2.044000	0.60594	0.486000	0.48141	AAG		0.607	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1		NM_005676		22	18	0	0	0	0.099896	0	22	18		
AMER1	139285	broad.mit.edu	37	X	63413139	63413139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:63413139G>A	ENST00000330258.3	-	2	300	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	AMER1_ENST00000374869.3_Nonsense_Mutation_p.Q10*|AMER1_ENST00000403336.1_Nonsense_Mutation_p.Q10*	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	10					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.Q10*(4)									CCCTTGGCCTGAGCAGCTTCA	0.527																																						uc004dvo.2		NaN																	71	Whole gene deletion(67)|Substitution - Nonsense(4)	p.0?(40)	kidney(65)|urinary_tract(2)|skin(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(28-30)CAG>TAG		family with sequence similarity 123B							142.0	117.0	125.0					X																	63413139		2203	4300	6503	SO:0001587	stop_gained	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63413139G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.28C>T	X.37:g.63413139G>A	ENSP00000329117:p.Gln10*						p.Q10*	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	301	-			10					A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	c.28C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641414	0.87859	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	.	.	.	4.59	4.59	0.56863	.	0.242154	0.29653	N	0.011558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-5.1321	9.2755	0.37696	0.0:0.0:0.6778:0.3222	.	.	.	.	X	10	.	ENSP00000329117:Q10X	Q	-	1	0	FAM123B	63329864	0.298000	0.24417	0.904000	0.35570	0.074000	0.17049	0.168000	0.16622	2.527000	0.85204	0.600000	0.82982	CAG		0.527	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1		NM_152424		42	36	0	0	0	0.104719	0	42	36		
ZMYM3	9203	broad.mit.edu	37	X	70470410	70470410	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:70470410C>T	ENST00000353904.2	-	5	1132	c.945G>A	c.(943-945)cgG>cgA	p.R315R	ZMYM3_ENST00000314425.5_Silent_p.R315R|ZMYM3_ENST00000373988.1_Silent_p.R317R|ZMYM3_ENST00000373984.3_Silent_p.R317R|ZMYM3_ENST00000373982.1_Silent_p.R317R|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373998.1_Silent_p.R315R|ZMYM3_ENST00000373981.1_Silent_p.R315R|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	315					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R315R(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCAGTGGTGTCCGGCAATGTG	0.622																																						uc004dzh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(943-945)CGG>CGA		zinc finger protein 261							45.0	34.0	38.0					X																	70470410		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70470410C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.945G>A	X.37:g.70470410C>T						BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.R315R|ZMYM3_uc004dzj.1_Silent_p.R315R|ZMYM3_uc011mpu.1_Silent_p.R46R|ZMYM3_uc004dzk.3_Silent_p.R315R|ZMYM3_uc004dzl.3_Silent_p.R315R|ZMYM3_uc004dzm.3_Silent_p.R315R	p.R315R	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			5	1032	-	Renal(35;0.156)		315					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.945G>A	CCDS14409.1																																																																																				0.622	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1		NM_201599		14	8	0	0	0	0.028581	0	14	8		
MAGEE1	57692	broad.mit.edu	37	X	75650837	75650837	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:75650837G>C	ENST00000361470.2	+	1	2792	c.2514G>C	c.(2512-2514)ttG>ttC	p.L838F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	838	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.L838F(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						ACAACTTTTTGATGCAGGTCC	0.502																																						uc004ecm.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(2512-2514)TTG>TTC		melanoma antigen family E, 1							54.0	47.0	50.0					X																	75650837		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650837G>C	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2514G>C	X.37:g.75650837G>C	ENSP00000354912:p.Leu838Phe						p.L838F	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	2721	+			838			Interaction with DTNA (By similarity).|MAGE 2.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.2514G>C	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	11.90	1.776962	0.31411	.	.	ENSG00000198934	ENST00000361470	T	0.07800	3.16	2.52	-1.57	0.08506	.	.	.	.	.	T	0.28532	0.0706	M	0.90483	3.12	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.04664	-1.0935	9	0.59425	D	0.04	.	6.5201	0.22271	0.6533:0.0:0.3467:0.0	.	838	Q9HCI5	MAGE1_HUMAN	F	838	ENSP00000354912:L838F	ENSP00000354912:L838F	L	+	3	2	MAGEE1	75567241	0.975000	0.34042	0.244000	0.24202	0.989000	0.77384	-0.011000	0.12721	-0.636000	0.05524	-0.176000	0.13171	TTG		0.502	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1		NM_020932		11	14	0	0	0	0.080935	0	11	14		
LGALS9B	284194	broad.mit.edu	37	17	20370782	20370783	+	Start_Codon_Ins	INS	-	-	TC	rs10687699|rs554373055|rs372509656	byFrequency	TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:20370782_20370783insTC	ENST00000423676.3	-	0	64_65				LGALS9B_ENST00000324290.5_Start_Codon_Ins			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B								carbohydrate binding (GO:0030246)	p.M1fs*12(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GCTGAAGGCCATCTCCACCGCC	0.584														831	0.165935	0.2504	0.1326	5008	,	,		9041	0.127		0.1481	False		,,,				2504	0.1339					uc002gxa.1		NaN																	1	Insertion - Frameshift(1)		central_nervous_system(1)	skin(1)	1						c.(1-3)ATGfs		galectin-9 like				372,1470		152,68,701						2.5	0.7		dbSNP_130	3	715,5069		234,247,2411	no	frameshift	LGALS9B	NM_001042685.1		386,315,3112	A1A1,A1R,RR		12.3617,20.1954,14.2539				1087,6539				SO:0001582	initiator_codon_variant	284194						sugar binding	g.chr17:20370782_20370783insTC		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.0_1dupGA	17.37:g.20370785_20370786dupTC						LGALS9B_uc002gwz.1_Frame_Shift_Ins_p.M1fs|LGALS9B_uc010vzh.1_Translation_Start_Site	p.M1fs	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN			1	66_67	-			1					A6NLF8|A8K2J8	Frame_Shift_Ins	INS	ENST00000423676.3	37	c.1_2insGA																																																																																					0.584	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2		NM_001042685		4	6	NaN	NaN	NaN	NaN	NaN	4	6	---	---
PCLO	27445	broad.mit.edu	37	7	82580534	82580534	+	Frame_Shift_Del	DEL	C	C	-	rs573459682		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:82580534delC	ENST00000333891.9	-	6	9707	c.9370delG	c.(9370-9372)gctfs	p.A3124fs	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Frame_Shift_Del_p.A3124fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGCATCAGCCGTATGAATA	0.453																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(9370-9372)GCTfs		piccolo isoform 1							75.0	77.0	77.0					7																	82580534		2037	4193	6230	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580534delC	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9370delG	7.37:g.82580534delC	ENSP00000334319:p.Ala3124fs					PCLO_uc003uhv.2_Frame_Shift_Del_p.A3124fs|PCLO_uc010lec.2_Frame_Shift_Del_p.A89fs	p.A3124fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	9659	-			3055						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.9370delG	CCDS47630.1																																																																																				0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		12	21	NaN	NaN	NaN	NaN	NaN	12	21	---	---
