#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
C1orf86	199990	broad.mit.edu	37	1	2125232	2125232	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:2125232C>T	ENST00000378546.4	-	3	340	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	C1orf86_ENST00000378545.3_Missense_Mutation_p.G209R|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	106					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTCCTGCCCCGTGAAGCAGC	0.692																																						uc001aiy.2																			0					0						c.(316-318)GGG>AGG		hypothetical protein LOC199990 isoform 2							19.0	26.0	24.0					1																	2125232		2191	4292	6483	SO:0001583	missense	199990							g.chr1:2125232C>T	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.316G>A	1.37:g.2125232C>T	ENSP00000367808:p.Gly106Arg					C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Silent_p.T101T	p.G106R	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	3	342	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	106					A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000378546.4	37	c.316G>A	CCDS38.2	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660132	0.29515	.	.	ENSG00000162585	ENST00000400918;ENST00000378546;ENST00000378545	T;T;T	0.52057	0.76;0.79;0.68	3.77	-3.54	0.04653	.	3.660770	0.01159	N	0.006608	T	0.23133	0.0559	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.04930	-1.0917	9	0.14656	T	0.56	-1.3858	0.8384	0.01145	0.1502:0.2673:0.2854:0.2971	.	106	Q6NZ36	CA086_HUMAN	R	106;106;209	ENSP00000383709:G106R;ENSP00000367808:G106R;ENSP00000367807:G209R	ENSP00000367807:G209R	G	-	1	0	C1orf86	2115092	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.195000	0.09546	-0.646000	0.05452	-0.448000	0.05591	GGG		0.692	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1	NM_182533	
SPEN	23013	broad.mit.edu	37	1	16260992	16260992	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:16260992G>A	ENST00000375759.3	+	11	8461	c.8257G>A	c.(8257-8259)Gta>Ata	p.V2753I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2753	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCTGGTGGTGTAACGGCCAC	0.577																																						uc001axk.1																			0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(8257-8259)GTA>ATA		spen homolog, transcriptional regulator							77.0	69.0	72.0					1																	16260992		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260992G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8257G>A	1.37:g.16260992G>A	ENSP00000364912:p.Val2753Ile					SPEN_uc010obp.1_Missense_Mutation_p.V2712I	p.V2753I	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	8461	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2753			Interaction with RBPSUH (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.8257G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	1.161	-0.643864	0.03531	.	.	ENSG00000065526	ENST00000375759	T	0.10477	2.87	3.55	2.64	0.31445	.	.	.	.	.	T	0.05135	0.0137	N	0.08118	0	0.21878	N	0.999499	B	0.22541	0.071	B	0.21360	0.034	T	0.41963	-0.9479	9	0.23302	T	0.38	-4.8509	6.9956	0.24780	0.126:0.0:0.874:0.0	.	2753	Q96T58	MINT_HUMAN	I	2753	ENSP00000364912:V2753I	ENSP00000364912:V2753I	V	+	1	0	SPEN	16133579	0.001000	0.12720	0.226000	0.23910	0.190000	0.23558	0.695000	0.25527	1.073000	0.40885	-0.258000	0.10820	GTA		0.577	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
OPRD1	4985	broad.mit.edu	37	1	29189500	29189500	+	Missense_Mutation	SNP	C	C	T	rs139895939		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:29189500C>T	ENST00000234961.2	+	3	1066	c.824C>T	c.(823-825)gCg>gTg	p.A275V		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	275					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|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)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GTGTGTTGGGCGCCCATCCAC	0.672																																						uc001brf.1																			0				ovary(1)|central_nervous_system(1)	2						c.(823-825)GCG>GTG		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	C	VAL/ALA	0,4402		0,0,2201	32.0	28.0	29.0		824	4.1	1.0	1	dbSNP_134	29	1,8595		0,1,4297	no	missense	OPRD1	NM_000911.3	64	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	275/373	29189500	1,12997	2201	4298	6499	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189500C>T	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.824C>T	1.37:g.29189500C>T	ENSP00000234961:p.Ala275Val						p.A275V	NM_000911	NP_000902	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	1066	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	275			Helical; Name=6; (Potential).		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.824C>T	CCDS329.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097276	0.76870	0.0	1.16E-4	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.71698	-0.59	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.208574	0.41605	D	0.000859	T	0.57636	0.2067	N	0.25825	0.765	0.47183	D	0.999347	B	0.30686	0.29	B	0.29862	0.108	T	0.59867	-0.7373	10	0.41790	T	0.15	.	13.7884	0.63123	0.0:1.0:0.0:0.0	.	275	P41143	OPRD_HUMAN	V	275;227	ENSP00000234961:A275V	ENSP00000234961:A275V	A	+	2	0	OPRD1	29062087	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.643000	0.83403	2.097000	0.63578	0.462000	0.41574	GCG		0.672	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911	
PTPN22	26191	broad.mit.edu	37	1	114380721	114380721	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:114380721G>A	ENST00000359785.5	-	13	1436	c.1301C>T	c.(1300-1302)gCa>gTa	p.A434V	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.A190V|PTPN22_ENST00000528414.1_Missense_Mutation_p.A379V|PTPN22_ENST00000420377.2_Missense_Mutation_p.A434V|PTPN22_ENST00000525799.1_Missense_Mutation_p.A307V	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	434					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATCTTCCTGCTGCATTTAC	0.408																																						uc001eds.2																			0				kidney(2)|lung(1)|skin(1)	4						c.(1300-1302)GCA>GTA		protein tyrosine phosphatase, non-receptor type							73.0	76.0	75.0					1																	114380721		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380721G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1301C>T	1.37:g.114380721G>A	ENSP00000352833:p.Ala434Val					PTPN22_uc009wgq.2_Missense_Mutation_p.A379V|PTPN22_uc010owo.1_Missense_Mutation_p.A190V|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.A434V|PTPN22_uc009wgs.2_Missense_Mutation_p.A307V|PTPN22_uc001edu.2_Missense_Mutation_p.A434V	p.A434V	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1431	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	434					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.1301C>T	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259726	0.39995	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.82	-2.45	0.06481	.	0.487586	0.20422	N	0.092642	T	0.12646	0.0307	M	0.67953	2.075	0.09310	N	0.999999	P;P;B;B;B;B	0.48089	0.905;0.839;0.236;0.006;0.376;0.236	P;B;B;B;B;B	0.45610	0.487;0.231;0.05;0.005;0.108;0.075	T	0.11567	-1.0582	10	0.40728	T	0.16	.	2.1004	0.03678	0.2695:0.2146:0.4062:0.1097	.	190;307;434;379;434;434	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	V	434;379;190;434;307;434	ENSP00000352833:A434V;ENSP00000435176:A379V;ENSP00000439372:A190V;ENSP00000388229:A434V;ENSP00000432674:A307V	ENSP00000346621:A434V	A	-	2	0	PTPN22	114182244	0.000000	0.05858	0.006000	0.13384	0.954000	0.61252	-0.054000	0.11826	-0.130000	0.11599	-0.793000	0.03317	GCA		0.408	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967	
IGSF3	3321	broad.mit.edu	37	1	117142794	117142794	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:117142794G>A	ENST00000369486.3	-	7	2563	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	IGSF3_ENST00000318837.6_Missense_Mutation_p.R620W|IGSF3_ENST00000369483.1_Missense_Mutation_p.R620W	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	600	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTCCGTCCCGGGTGAAGGTC	0.622																																						uc001egr.1																			0				ovary(2)	2						c.(1798-1800)CGG>TGG		immunoglobulin superfamily, member 3 isoform 2							26.0	26.0	26.0					1																	117142794		2203	4296	6499	SO:0001583	missense	3321					integral to membrane		g.chr1:117142794G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1798C>T	1.37:g.117142794G>A	ENSP00000358498:p.Arg600Trp					IGSF3_uc001egq.1_Missense_Mutation_p.R620W|IGSF3_uc001egs.1_Missense_Mutation_p.R273W	p.R600W	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2503	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	600			Ig-like C2-type 5.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1798C>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608398	0.87258	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02709	4.19;4.19;4.19	4.57	4.57	0.56435	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.05823	0.0152	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.985;0.998;0.991	T	0.34576	-0.9823	10	0.87932	D	0	-44.441	14.8994	0.70666	0.0:0.0:1.0:0.0	.	620;600;620	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	W	600;620;620	ENSP00000358498:R600W;ENSP00000358495:R620W;ENSP00000321184:R620W	ENSP00000321184:R620W	R	-	1	2	IGSF3	116944317	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.144000	0.77357	2.354000	0.79902	0.455000	0.32223	CGG		0.622	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
VTCN1	79679	broad.mit.edu	37	1	117690323	117690323	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:117690323C>A	ENST00000369458.3	-	5	884	c.806G>T	c.(805-807)aGc>aTc	p.S269I	VTCN1_ENST00000539893.1_Missense_Mutation_p.S174I|VTCN1_ENST00000359008.4_Missense_Mutation_p.S272I|VTCN1_ENST00000328189.3_Missense_Mutation_p.S153I	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AAGTGCCCAGCTGATGGCAAA	0.448																																						uc001ehb.2																			0					0						c.(805-807)AGC>ATC		V-set domain containing T cell activation							107.0	101.0	103.0					1																	117690323		2203	4300	6503	SO:0001583	missense	79679					integral to membrane|plasma membrane		g.chr1:117690323C>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.806G>T	1.37:g.117690323C>A	ENSP00000358470:p.Ser269Ile					VTCN1_uc001ehc.2_Missense_Mutation_p.S174I|VTCN1_uc009whf.1_Missense_Mutation_p.S153I	p.S269I	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	5	878	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	269			Helical; (Potential).			Missense_Mutation	SNP	ENST00000369458.3	37	c.806G>T	CCDS894.1	.	.	.	.	.	.	.	.	.	.	C	6.120	0.390295	0.11581	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.23754	3.43;3.42;1.89;3.61	5.49	-7.67	0.01272	.	0.955501	0.08759	N	0.898029	T	0.03564	0.0102	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41716	-0.9493	10	0.62326	D	0.03	-9.0864	2.6195	0.04912	0.4287:0.1677:0.275:0.1286	.	153;269	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	I	269;272;153;174	ENSP00000358470:S269I;ENSP00000351899:S272I;ENSP00000328168:S153I;ENSP00000444724:S174I	ENSP00000328168:S153I	S	-	2	0	VTCN1	117491846	0.000000	0.05858	0.002000	0.10522	0.075000	0.17131	-2.127000	0.01315	-1.196000	0.02676	-0.838000	0.03060	AGC		0.448	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626	
C1orf110	339512	broad.mit.edu	37	1	162829260	162829260	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:162829260C>A	ENST00000367910.1	-	2	297	c.177G>T	c.(175-177)agG>agT	p.R59S	C1orf110_ENST00000367911.2_Missense_Mutation_p.R55S|C1orf110_ENST00000367912.2_Missense_Mutation_p.R59S	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	59										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						CTTGCTGCAACCTCTGCAGTT	0.547																																						uc001gck.2																			0					0						c.(175-177)AGG>AGT		hypothetical protein LOC339512							82.0	82.0	82.0					1																	162829260		2008	4169	6177	SO:0001583	missense	339512							g.chr1:162829260C>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.177G>T	1.37:g.162829260C>A	ENSP00000356886:p.Arg59Ser					C1orf110_uc009wux.1_Missense_Mutation_p.R59S	p.R59S	NM_178550	NP_848645	Q86UF4	CA110_HUMAN			2	352	-			59			Potential.		Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.177G>T	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868718	0.17322	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.16	2.23	0.28157	.	0.264809	0.25762	N	0.028468	T	0.28699	0.0711	M	0.62723	1.935	0.23221	N	0.998095	P;P	0.46277	0.875;0.875	P;P	0.44811	0.461;0.461	T	0.15009	-1.0452	8	0.87932	D	0	-9.3601	5.5611	0.17144	0.0:0.6739:0.2135:0.1126	.	59;59	Q86UF4-2;Q86UF4	.;CA110_HUMAN	S	59;55;59	.	ENSP00000356886:R59S	R	-	3	2	C1orf110	161095884	0.062000	0.20869	0.782000	0.31804	0.003000	0.03518	0.208000	0.17415	0.484000	0.27630	-0.136000	0.14681	AGG		0.547	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550	
CYB5R1	51706	broad.mit.edu	37	1	202932844	202932844	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:202932844T>C	ENST00000367249.4	-	7	645	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	191					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AGCTGTAGCATTGGGGTGATT	0.512																																						uc001gyt.2																			0				ovary(1)	1						c.(571-573)ATG>GTG		cytochrome b5 reductase 1							121.0	102.0	109.0					1																	202932844		2203	4300	6503	SO:0001583	missense	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202932844T>C	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.571A>G	1.37:g.202932844T>C	ENSP00000356218:p.Met191Val					CYB5R1_uc010pqe.1_RNA	p.M191V	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		7	642	-			191			FAD (By similarity).		A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	c.571A>G	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287604	0.80803	.	.	ENSG00000159348	ENST00000367249	D	0.85955	-2.05	5.93	5.93	0.95920	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.91157	0.7215	M	0.73372	2.23	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.91010	0.4849	10	0.46703	T	0.11	-5.4911	14.3287	0.66537	0.0:0.0:0.0:1.0	.	191	Q9UHQ9	NB5R1_HUMAN	V	191	ENSP00000356218:M191V	ENSP00000356218:M191V	M	-	1	0	CYB5R1	201199467	1.000000	0.71417	0.962000	0.40283	0.998000	0.95712	7.613000	0.82986	2.263000	0.75096	0.533000	0.62120	ATG		0.512	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243	
SMYD3	64754	broad.mit.edu	37	1	246078867	246078867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:246078867C>A	ENST00000388985.4	-	8	777	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	SMYD3_ENST00000541742.1_Nonsense_Mutation_p.E201*|SMYD3_ENST00000490107.1_Nonsense_Mutation_p.E201*|SMYD3_ENST00000366517.1_5'UTR			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	260					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CAGTCACATTCAAAGCAGTAC	0.512																																						uc001ibl.2																			0					0						c.(778-780)GAA>TAA		SET and MYND domain containing 3							145.0	119.0	128.0					1																	246078867		2203	4300	6503	SO:0001587	stop_gained	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246078867C>A	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.778G>T	1.37:g.246078867C>A	ENSP00000373637:p.Glu260*					SMYD3_uc001ibk.2_Nonsense_Mutation_p.E201*|SMYD3_uc001ibi.2_Nonsense_Mutation_p.E71*|SMYD3_uc001ibj.2_Nonsense_Mutation_p.E71*	p.E260*	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	8	873	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	260					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Nonsense_Mutation	SNP	ENST00000388985.4	37	c.778G>T	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	C	37	6.195337	0.97367	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985;ENST00000391836	.	.	.	5.97	5.06	0.68205	.	0.583349	0.18727	N	0.132851	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-3.9132	12.6266	0.56634	0.1654:0.8346:0.0:0.0	.	.	.	.	X	201;201;90;260;71	.	ENSP00000373637:E260X	E	-	1	0	SMYD3	244145490	0.994000	0.37717	0.854000	0.33618	0.938000	0.57974	2.093000	0.41710	1.519000	0.48950	0.655000	0.94253	GAA		0.512	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743	
OPTN	10133	broad.mit.edu	37	10	13174131	13174131	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:13174131A>G	ENST00000378748.3	+	14	1828	c.1466A>G	c.(1465-1467)aAg>aGg	p.K489R	OPTN_ENST00000263036.5_Missense_Mutation_p.K489R|OPTN_ENST00000378764.2_Missense_Mutation_p.K483R|OPTN_ENST00000378752.3_Missense_Mutation_p.K483R|OPTN_ENST00000378747.3_Missense_Mutation_p.K489R|OPTN_ENST00000378757.2_Missense_Mutation_p.K489R	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	489	Interaction with HD.|Interaction with MYO6.				cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CATGAGGAAAAGGAGCAACTG	0.443																																						uc001ilu.1																			0				ovary(2)	2						c.(1465-1467)AAG>AGG		optineurin							121.0	117.0	118.0					10																	13174131		2203	4300	6503	SO:0001583	missense	10133				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	g.chr10:13174131A>G	AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1466A>G	10.37:g.13174131A>G	ENSP00000368022:p.Lys489Arg					OPTN_uc001ilv.1_Missense_Mutation_p.K489R|OPTN_uc001ilw.1_Missense_Mutation_p.K489R|OPTN_uc001ilx.1_Missense_Mutation_p.K489R|OPTN_uc001ily.1_Missense_Mutation_p.K483R|OPTN_uc010qbr.1_Missense_Mutation_p.K432R|OPTN_uc001ilz.1_Missense_Mutation_p.K483R	p.K489R	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN			14	1904	+			489			Potential.|Interaction with MYO6.|Interaction with HD.		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	c.1466A>G	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968893	0.74131	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.91631	-2.88;-2.86;-2.88;-2.86;-2.88;-2.88	6.17	6.17	0.99709	.	0.081477	0.85682	D	0.000000	D	0.94381	0.8193	M	0.70275	2.135	0.51482	D	0.999926	P;P	0.48089	0.905;0.846	P;P	0.54460	0.753;0.571	D	0.94304	0.7539	10	0.54805	T	0.06	-38.5534	15.8048	0.78491	1.0:0.0:0.0:0.0	.	483;489	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	R	489;483;489;483;489;489	ENSP00000263036:K489R;ENSP00000368040:K483R;ENSP00000368032:K489R;ENSP00000368027:K483R;ENSP00000368022:K489R;ENSP00000368021:K489R	ENSP00000263036:K489R	K	+	2	0	OPTN	13214137	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.238000	0.65366	2.371000	0.80710	0.533000	0.62120	AAG		0.443	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980	
CCDC7	79741	broad.mit.edu	37	10	32780862	32780862	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:32780862C>T	ENST00000362006.5	+	10	1352	c.809C>T	c.(808-810)tCa>tTa	p.S270L	CCDC7_ENST00000537047.1_Nonsense_Mutation_p.Q175*|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.S270L	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	270										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ACTGCTCATTCAATGACTAAT	0.264																																						uc001iwj.2																			0					0						c.(808-810)TCA>TTA		coiled-coil domain containing 7							66.0	75.0	72.0					10																	32780862		2203	4292	6495	SO:0001583	missense	221016							g.chr10:32780862C>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.809C>T	10.37:g.32780862C>T	ENSP00000355078:p.Ser270Leu					CCDC7_uc009xlu.1_Intron|CCDC7_uc001iwk.2_Missense_Mutation_p.S270L|CCDC7_uc009xlv.2_Intron|CCDC7_uc009xlw.1_RNA|CCDC7_uc009xlx.1_Intron|CCDC7_uc009xly.1_Intron	p.S270L	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN			10	1379	+		Breast(68;0.000207)|Prostate(175;0.0107)	270					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.809C>T	CCDS7173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.90|11.90	1.776657|1.776657	0.31411|0.31411	.|.	.|.	ENSG00000216937|ENSG00000216937	ENST00000537047|ENST00000277657;ENST00000362006	.|T;T	.|0.36878	.|1.23;1.23	4.13|4.13	1.16|1.16	0.20824|0.20824	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22551	.|0.0544	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	0.999992|0.999992	.|B	.|0.15141	.|0.012	.|B	.|0.17433	.|0.018	.|T	.|0.21690	.|-1.0238	.|9	0.87932|0.49607	D|T	0|0.09	-23.8202|-23.8202	5.9093|5.9093	0.19018|0.19018	0.0:0.638:0.0:0.362|0.0:0.638:0.0:0.362	.|.	.|270	.|Q96M83	.|CCDC7_HUMAN	X|L	175|270	.|ENSP00000277657:S270L;ENSP00000355078:S270L	ENSP00000440632:Q175X|ENSP00000277657:S270L	Q|S	+|+	1|2	0|0	CCDC7|CCDC7	32820868|32820868	0.002000|0.002000	0.14202|0.14202	0.004000|0.004000	0.12327|0.12327	0.009000|0.009000	0.06853|0.06853	0.163000|0.163000	0.16520|0.16520	0.252000|0.252000	0.21531|0.21531	-0.254000|-0.254000	0.11334|0.11334	CAA|TCA		0.264	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023	
SLC18A3	6572	broad.mit.edu	37	10	50819867	50819867	+	Missense_Mutation	SNP	G	G	A	rs554262479	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:50819867G>A	ENST00000374115.3	+	1	1521	c.1081G>A	c.(1081-1083)Gcg>Acg	p.A361T	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000455728.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	361					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTGTACGGCGCGCTTGGGCT	0.687																																						uc001jhw.2																			0				ovary(2)	2						c.(1081-1083)GCG>ACG		vesicular acetylcholine transporter							37.0	40.0	39.0					10																	50819867		2200	4297	6497	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819867G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1081G>A	10.37:g.50819867G>A	ENSP00000363229:p.Ala361Thr					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.A361T	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1521	+			361			Helical; (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1081G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674798	0.67928	.	.	ENSG00000187714	ENST00000374115	T	0.59224	0.28	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	T	0.78622	0.4312	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.80865	-0.1191	10	0.52906	T	0.07	-8.8518	18.6285	0.91350	0.0:0.0:1.0:0.0	.	361	Q16572	VACHT_HUMAN	T	361	ENSP00000363229:A361T	ENSP00000363229:A361T	A	+	1	0	SLC18A3	50489873	1.000000	0.71417	0.608000	0.28969	0.231000	0.25187	9.725000	0.98778	2.412000	0.81896	0.561000	0.74099	GCG		0.687	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055	
LIPF	8513	broad.mit.edu	37	10	90428330	90428330	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:90428330T>A	ENST00000238983.4	+	4	285	c.239T>A	c.(238-240)gTg>gAg	p.V80E	LIPF_ENST00000355843.2_Intron|LIPF_ENST00000608620.1_Intron|LIPF_ENST00000394375.3_Missense_Mutation_p.V90E	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	80					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	AGACCTGTTGTGTTTTTGCAG	0.408																																						uc001kfg.1																			0					0						c.(238-240)GTG>GAG		lipase, gastric precursor							75.0	66.0	69.0					10																	90428330		2203	4300	6503	SO:0001583	missense	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90428330T>A	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.239T>A	10.37:g.90428330T>A	ENSP00000238983:p.Val80Glu					LIPF_uc009xtk.2_Missense_Mutation_p.V80E|LIPF_uc001kfh.1_Intron|LIPF_uc010qmt.1_Missense_Mutation_p.V90E|LIPF_uc010qmu.1_Intron	p.V80E	NM_004190	NP_004181	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	4	405	+		Colorectal(252;0.0161)	80					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	c.239T>A	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168088	0.78339	.	.	ENSG00000182333	ENST00000394375;ENST00000238983	D;D	0.93189	-3.18;-3.18	4.39	-0.718	0.11205	Partial AB-hydrolase lipase domain (1);	0.495276	0.16912	N	0.194446	D	0.97692	0.9243	H	0.99516	4.605	0.28001	N	0.935261	D;D;D	0.65815	0.971;0.995;0.977	D;D;D	0.68483	0.93;0.937;0.958	D	0.92602	0.6092	10	0.87932	D	0	-5.3877	9.3023	0.37853	0.0:0.3296:0.0:0.6704	.	90;90;80	F5H1P4;B7Z723;P07098	.;.;LIPG_HUMAN	E	90;80	ENSP00000377900:V90E;ENSP00000238983:V80E	ENSP00000238983:V80E	V	+	2	0	LIPF	90418310	0.972000	0.33761	0.007000	0.13788	0.966000	0.64601	1.646000	0.37249	-0.001000	0.14495	0.455000	0.32223	GTG		0.408	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1		
DMBT1	1755	broad.mit.edu	37	10	124395540	124395540	+	Silent	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:124395540A>G	ENST00000338354.3	+	50	6301	c.6195A>G	c.(6193-6195)gaA>gaG	p.E2065E	DMBT1_ENST00000330163.4_Silent_p.E1437E|DMBT1_ENST00000359586.6_Silent_p.E785E|DMBT1_ENST00000368955.3_Silent_p.E2055E|DMBT1_ENST00000368956.2_Silent_p.E1437E|DMBT1_ENST00000368909.3_Silent_p.E2065E|DMBT1_ENST00000344338.3_Silent_p.E2055E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2065	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTATATTGAAGTTTTCGATG	0.507																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				central_nervous_system(7)	7						c.(6193-6195)GAA>GAG		deleted in malignant brain tumors 1 isoform b							119.0	115.0	116.0					10																	124395540		1961	4142	6103	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124395540A>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6195A>G	10.37:g.124395540A>G						DMBT1_uc001lgl.1_Silent_p.E2055E|DMBT1_uc001lgm.1_Silent_p.E1437E|DMBT1_uc009xzz.1_Silent_p.E2064E|DMBT1_uc010qtx.1_Silent_p.E785E|DMBT1_uc009yab.1_Silent_p.E768E|DMBT1_uc009yac.1_Silent_p.E359E	p.E2065E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			50	6301	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2065			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.6195A>G																																																																																					0.507	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
NLRP14	338323	broad.mit.edu	37	11	7083705	7083705	+	Silent	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:7083705A>G	ENST00000299481.4	+	10	3292	c.2946A>G	c.(2944-2946)agA>agG	p.R982R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	982					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGCTTTGAGATATCCAAACT	0.403																																						uc001mfb.1																			0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2944-2946)AGA>AGG		NLR family, pyrin domain containing 14							152.0	142.0	145.0					11																	7083705		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7083705A>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2946A>G	11.37:g.7083705A>G							p.R982R	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	10	3269	+			982					Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.2946A>G	CCDS7776.1																																																																																				0.403	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	
RNF141	50862	broad.mit.edu	37	11	10536581	10536581	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:10536581C>T	ENST00000265981.2	-	6	717	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	192					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R192H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CATCTGTAGGCGACAAATAGG	0.383																																					Ovarian(8;377 410 25844 26058 41491)	uc001mis.1																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(574-576)CGC>CAC		ring finger protein 141							152.0	137.0	142.0					11																	10536581		2201	4294	6495	SO:0001583	missense	50862						zinc ion binding	g.chr11:10536581C>T	AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"""RING-type (C3HC4) zinc fingers"""	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.575G>A	11.37:g.10536581C>T	ENSP00000265981:p.Arg192His					RNF141_uc009yga.1_RNA	p.R192H	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN		all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)	6	728	-			192			RING-type.		A8K149|Q9NZB4	Missense_Mutation	SNP	ENST00000265981.2	37	c.575G>A	CCDS7803.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297516	0.81025	.	.	ENSG00000110315	ENST00000265981	T	0.61158	0.13	5.7	5.7	0.88788	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	M	0.89414	3.03	0.80722	D	1	D	0.56035	0.974	P	0.47015	0.534	T	0.79004	-0.1980	10	0.72032	D	0.01	-10.379	19.8478	0.96722	0.0:1.0:0.0:0.0	.	192	Q8WVD5	RN141_HUMAN	H	192	ENSP00000265981:R192H	ENSP00000265981:R192H	R	-	2	0	RNF141	10493157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.067000	0.71193	2.704000	0.92352	0.650000	0.86243	CGC		0.383	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385888.1	NM_016422	
WT1	7490	broad.mit.edu	37	11	32421505	32421505	+	Silent	SNP	T	T	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:32421505T>G	ENST00000379079.2	-	6	724	c.451A>C	c.(451-453)Aga>Cga	p.R151R	WT1_ENST00000332351.3_Silent_p.R363R|WT1_ENST00000448076.3_Silent_p.R363R|WT1_ENST00000530998.1_Silent_p.R134R	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	295					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGAATGCCTCTGAAGACACCG	0.557			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	0				haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	GRCh37	CM041491	WT1	M		c.(1087-1089)AGA>CGA		Wilms tumor 1 isoform D							228.0	188.0	201.0					11																	32421505		2202	4299	6501	SO:0001819	synonymous_variant	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32421505T>G		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.451A>C	11.37:g.32421505T>G						WT1_uc001mtl.1_Silent_p.R151R|WT1_uc001mtm.1_Silent_p.R134R|WT1_uc001mto.1_Silent_p.R363R|WT1_uc001mtp.1_Silent_p.R346R|WT1_uc001mtq.1_Silent_p.R346R|WT1_uc009yjs.1_RNA	p.R363R	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		6	1283	-	Breast(20;0.247)		295					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000379079.2	37	c.1087A>C	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	T	9.051	0.992145	0.18966	.	.	ENSG00000184937	ENST00000527882	.	.	.	5.98	3.65	0.41850	.	.	.	.	.	T	0.68366	0.2993	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64744	-0.6335	4	.	.	.	.	13.229	0.59931	0.0:0.0:0.3133:0.6867	.	.	.	.	P	53	.	.	Q	-	2	0	WT1	32378081	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.712000	0.54875	0.493000	0.27837	-0.321000	0.08615	CAG		0.557	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	
CHRM1	1128	broad.mit.edu	37	11	62677224	62677224	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:62677224C>T	ENST00000306960.3	-	2	1890	c.1349G>A	c.(1348-1350)gGc>gAc	p.G450D	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	450					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	GTGCACGGAGCCAGGGCGCTT	0.657																																						uc001nwi.2																			0					0						c.(1348-1350)GGC>GAC		cholinergic receptor, muscarinic 1	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)						84.0	91.0	89.0					11																	62677224		2201	4298	6499	SO:0001583	missense	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677224C>T	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1349G>A	11.37:g.62677224C>T	ENSP00000306490:p.Gly450Asp						p.G450D	NM_000738	NP_000729	P11229	ACM1_HUMAN			2	1750	-			450			Cytoplasmic (Potential).		Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	c.1349G>A	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041916	0.35989	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.59502	0.29;0.26	4.53	2.6	0.31112	.	0.418236	0.17360	N	0.177062	T	0.30947	0.0781	N	0.08118	0	0.20563	N	0.999881	B	0.21452	0.056	B	0.13407	0.009	T	0.18903	-1.0322	10	0.72032	D	0.01	-11.3875	2.8168	0.05458	0.1907:0.5242:0.1845:0.1006	.	450	P11229	ACM1_HUMAN	D	450	ENSP00000306490:G450D;ENSP00000441188:G450D	ENSP00000306490:G450D	G	-	2	0	CHRM1	62433800	0.015000	0.18098	0.079000	0.20413	0.834000	0.47266	0.758000	0.26447	0.476000	0.27440	0.561000	0.74099	GGC		0.657	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738	
STIP1	10963	broad.mit.edu	37	11	63961718	63961718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:63961718C>T	ENST00000305218.4	+	3	424	c.277C>T	c.(277-279)Cga>Tga	p.R93*	STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Nonsense_Mutation_p.R93*|STIP1_ENST00000358794.5_Nonsense_Mutation_p.R140*|STIP1_ENST00000538945.1_Intron	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	93					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGAAGCCAAGCGAACCTATGA	0.468																																						uc001nyk.1																			0				ovary(2)|liver(1)	3						c.(277-279)CGA>TGA		stress-induced-phosphoprotein 1							106.0	104.0	105.0					11																	63961718		2201	4297	6498	SO:0001587	stop_gained	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63961718C>T	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.277C>T	11.37:g.63961718C>T	ENSP00000305958:p.Arg93*					STIP1_uc001nyj.2_Nonsense_Mutation_p.R93*|STIP1_uc010rnb.1_Intron	p.R93*	NM_006819	NP_006810	P31948	STIP1_HUMAN			3	424	+			93			TPR 3.		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Nonsense_Mutation	SNP	ENST00000305218.4	37	c.277C>T	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353191	0.82132	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000543847	.	.	.	5.57	4.65	0.58169	.	0.778081	0.11856	N	0.522802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.9868	12.416	0.55494	0.4143:0.5857:0.0:0.0	.	.	.	.	X	140;93;93	.	ENSP00000305958:R93X	R	+	1	2	STIP1	63718294	0.995000	0.38212	0.997000	0.53966	0.933000	0.57130	0.992000	0.29667	1.479000	0.48272	0.650000	0.86243	CGA		0.468	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819	
GRAMD1B	57476	broad.mit.edu	37	11	123471245	123471245	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:123471245C>G	ENST00000529750.1	+	7	937	c.610C>G	c.(610-612)Ctc>Gtc	p.L204V	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.L204V|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.L211V	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	204						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCAGAATGCTCTCCTTGAAAA	0.458																																						uc001pyx.2																			0				ovary(1)	1						c.(610-612)CTC>GTC		GRAM domain containing 1B							92.0	86.0	88.0					11																	123471245		1862	4093	5955	SO:0001583	missense	57476					integral to membrane		g.chr11:123471245C>G	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.610C>G	11.37:g.123471245C>G	ENSP00000436500:p.Leu204Val					GRAMD1B_uc001pyw.2_Missense_Mutation_p.L211V|GRAMD1B_uc010rzw.1_Missense_Mutation_p.L164V|GRAMD1B_uc010rzx.1_Missense_Mutation_p.L164V|GRAMD1B_uc009zbe.1_Missense_Mutation_p.L200V	p.L204V	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	7	939	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	204					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.610C>G	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443459	0.63067	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.39229	1.49;1.49;1.48;1.53;1.09	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.63169	1.94	0.80722	D	1	P;P;B;P	0.48998	0.701;0.918;0.39;0.506	B;P;B;B	0.49332	0.403;0.607;0.054;0.196	T	0.46133	-0.9213	10	0.44086	T	0.13	.	13.1379	0.59419	0.0:0.927:0.0:0.073	.	164;211;204;211	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	V	211;211;204;204;164;200	ENSP00000402457:L211V;ENSP00000325628:L204V;ENSP00000436500:L204V;ENSP00000432987:L164V;ENSP00000434214:L200V	ENSP00000325628:L204V	L	+	1	0	GRAMD1B	122976455	1.000000	0.71417	0.984000	0.44739	0.758000	0.43043	6.033000	0.70925	2.696000	0.92011	0.591000	0.81541	CTC		0.458	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660	
OVCH1	341350	broad.mit.edu	37	12	29630051	29630051	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:29630051T>C	ENST00000318184.5	-	12	1360	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	454	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AATGTGCTTCTCTGGAGCACA	0.393																																						uc001rix.1																			0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(1360-1362)GAG>GGG		ovochymase 1 precursor							80.0	79.0	79.0					12																	29630051		1888	4110	5998	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29630051T>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1361A>G	12.37:g.29630051T>C	ENSP00000326708:p.Glu454Gly						p.E454G	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			12	1361	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		454			CUB 2.			Missense_Mutation	SNP	ENST00000318184.5	37	c.1361A>G		.	.	.	.	.	.	.	.	.	.	T	6.608	0.480572	0.12581	.	.	ENSG00000187950	ENST00000318184	T	0.58210	0.35	2.73	-2.36	0.06663	CUB (5);	.	.	.	.	T	0.37625	0.1010	L	0.39467	1.215	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.25641	-1.0126	9	0.42905	T	0.14	.	5.716	0.17960	0.0:0.4222:0.1557:0.4222	.	454	Q7RTY7	OVCH1_HUMAN	G	454	ENSP00000326708:E454G	ENSP00000326708:E454G	E	-	2	0	OVCH1	29521318	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	-0.258000	0.08733	-0.581000	0.05937	-0.304000	0.09214	GAG		0.393	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
H3F3C	440093	broad.mit.edu	37	12	31944946	31944946	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:31944946C>T	ENST00000340398.3	-	1	229	c.155G>A	c.(154-156)cGt>cAt	p.R52H		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	52					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CTGATAACGACGAATCTCTCG	0.582										HNSCC(67;0.2)																												uc001rkr.2																			0					0						c.(154-156)CGT>CAT		histone H3-like							73.0	68.0	70.0					12																	31944946		2203	4300	6503	SO:0001583	missense	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944946C>T	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.155G>A	12.37:g.31944946C>T	ENSP00000339835:p.Arg52His	HNSCC(67;0.2)					p.R52H	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			1	230	-			52					E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	c.155G>A	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	C	9.098	1.003448	0.19121	.	.	ENSG00000188375	ENST00000340398	T	0.52983	0.64	0.811	-0.295	0.12828	Histone-fold (2);	0.516883	0.11381	U	0.569819	T	0.60843	0.2300	H	0.99011	4.4	0.31898	N	0.616365	B	0.22346	0.068	B	0.16289	0.015	T	0.62459	-0.6850	10	0.66056	D	0.02	.	5.2632	0.15586	0.0:0.7553:0.0:0.2447	.	52	Q6NXT2	H3C_HUMAN	H	52	ENSP00000339835:R52H	ENSP00000339835:R52H	R	-	2	0	H3F3C	31836213	0.999000	0.42202	0.001000	0.08648	0.097000	0.18754	5.337000	0.65941	-0.094000	0.12374	0.413000	0.27773	CGT		0.582	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699	
GALNT6	11226	broad.mit.edu	37	12	51773383	51773383	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:51773383C>T	ENST00000543196.2	-	2	388	c.183G>A	c.(181-183)atG>atA	p.M61I	GALNT6_ENST00000356317.3_Missense_Mutation_p.M61I|GALNT6_ENST00000603203.1_5'Flank			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	61					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TAAGGTTGTTCATGGCCTCCA	0.552																																						uc001ryk.2																			0				ovary(2)	2						c.(181-183)ATG>ATA		polypeptide N-acetylgalactosaminyltransferase 6							86.0	89.0	88.0					12																	51773383		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51773383C>T	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.183G>A	12.37:g.51773383C>T	ENSP00000444171:p.Met61Ile					GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.M61I|GALNT6_uc010snh.1_Missense_Mutation_p.M61I	p.M61I	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			2	408	-			61			Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.183G>A	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698693	0.30142	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.26373	1.74;1.74	4.52	1.57	0.23409	.	0.631761	0.13655	N	0.371994	T	0.15435	0.0372	N	0.24115	0.695	0.21652	N	0.999602	B	0.12013	0.005	B	0.08055	0.003	T	0.27365	-1.0076	10	0.23302	T	0.38	.	9.3612	0.38197	0.0:0.51:0.4092:0.0808	.	61	Q8NCL4	GALT6_HUMAN	I	61;61;42	ENSP00000444171:M61I;ENSP00000348668:M61I	ENSP00000348668:M61I	M	-	3	0	GALNT6	50059650	0.782000	0.28689	0.888000	0.34837	0.715000	0.41141	-0.218000	0.09240	0.354000	0.24105	-0.137000	0.14449	ATG		0.552	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210	
OR6C1	390321	broad.mit.edu	37	12	55714592	55714592	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:55714592C>T	ENST00000379668.2	+	1	247	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAGAAATTTCGTTCACAACC	0.378																																						uc010spi.1																			0				large_intestine(1)|ovary(1)	2						c.(208-210)TCG>TTG		olfactory receptor, family 6, subfamily C,							57.0	58.0	57.0					12																	55714592		2202	4300	6502	SO:0001583	missense	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714592C>T	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.209C>T	12.37:g.55714592C>T	ENSP00000368990:p.Ser70Leu						p.S70L	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	209	+			70			Helical; Name=2; (Potential).		B2RNM0	Missense_Mutation	SNP	ENST00000379668.2	37	c.209C>T	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	c	14.23	2.473039	0.43942	.	.	ENSG00000205330	ENST00000379668	T	0.00428	7.44	4.84	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.134020	0.34652	N	0.003796	T	0.00300	0.0009	L	0.38838	1.175	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.43147	-0.9409	10	0.42905	T	0.14	.	8.5802	0.33623	0.0:0.7594:0.1544:0.0862	.	70	Q96RD1	OR6C1_HUMAN	L	70	ENSP00000368990:S70L	ENSP00000368990:S70L	S	+	2	0	OR6C1	54000859	0.002000	0.14202	0.540000	0.28089	0.930000	0.56654	0.601000	0.24119	1.260000	0.44134	0.455000	0.32223	TCG		0.378	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182	
RPL14P1	144581	broad.mit.edu	37	12	63359117	63359117	+	IGR	SNP	C	C	T	rs570692234		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:63359117C>T								Y_RNA (29535 upstream) : LDHAL6CP (38341 downstream)																							GGTGTTCAGGCGCTTCGTGGA	0.468													-|||	1	0.000199681	0.0	0.0	5008	,	,		18697	0.0		0.001	False		,,,				2504	0.0					uc001srn.1																			0											c.(13-15)CGC>TGC		SubName: Full=Putative uncharacterized protein RPL14P1;																																				SO:0001628	intergenic_variant	0							g.chr12:63359117C>T																													12.37:g.63359117C>T							p.R5C							1	18	+									Missense_Mutation	SNP		37	c.13C>T																																																																																				0	0.468								
GLT8D2	83468	broad.mit.edu	37	12	104387178	104387178	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:104387178C>G	ENST00000360814.4	-	10	1277	c.872G>C	c.(871-873)aGg>aCg	p.R291T	GLT8D2_ENST00000548660.1_Missense_Mutation_p.R291T|GLT8D2_ENST00000546436.1_Missense_Mutation_p.R291T	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	291						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ACCCAGGTGCCTTATGTGCCA	0.458																																						uc001tkh.1																			0				ovary(1)|skin(1)	2						c.(871-873)AGG>ACG		glycosyltransferase 8 domain containing 2							62.0	61.0	61.0					12																	104387178		2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104387178C>G	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.872G>C	12.37:g.104387178C>G	ENSP00000354053:p.Arg291Thr					GLT8D2_uc001tki.1_Missense_Mutation_p.R291T	p.R291T	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN			10	1278	-			291			Lumenal (Potential).		Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.872G>C	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846904	0.91277	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.39592	1.07;1.07;1.07	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64765	-0.6330	10	0.23302	T	0.38	.	19.2521	0.93929	0.0:1.0:0.0:0.0	.	291	Q9H1C3	GL8D2_HUMAN	T	291	ENSP00000354053:R291T;ENSP00000449750:R291T;ENSP00000447450:R291T	ENSP00000354053:R291T	R	-	2	0	GLT8D2	102911308	0.970000	0.33590	0.967000	0.41034	0.980000	0.70556	6.090000	0.71397	2.557000	0.86248	0.655000	0.94253	AGG		0.458	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302	
DCLK1	9201	broad.mit.edu	37	13	36686060	36686060	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr13:36686060G>A	ENST00000360631.3	-	3	880	c.669C>T	c.(667-669)gcC>gcT	p.A223A	DCLK1_ENST00000379892.4_Silent_p.A223A|DCLK1_ENST00000255448.4_Silent_p.A223A			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	223	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCAGCTTGATGGCATCGGTGA	0.488																																						uc001uvf.2																			0				stomach(6)|ovary(2)|skin(1)	9						c.(667-669)GCC>GCT		doublecortin-like kinase 1							153.0	128.0	137.0					13																	36686060		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686060G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.669C>T	13.37:g.36686060G>A							p.A223A	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	902	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	223			Doublecortin 2.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.669C>T																																																																																					0.488	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
SPG20	23111	broad.mit.edu	37	13	36909291	36909291	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr13:36909291T>C	ENST00000451493.1	-	2	894	c.677A>G	c.(676-678)aAt>aGt	p.N226S	SPG20_ENST00000438666.2_Missense_Mutation_p.N226S|SPG20_ENST00000494062.2_Missense_Mutation_p.N226S|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.N226S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	226					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTGTACTCCATTTGGTATCAA	0.423																																						uc001uvn.2																			0					0						c.(676-678)AAT>AGT		spartin							65.0	67.0	66.0					13																	36909291		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909291T>C	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.677A>G	13.37:g.36909291T>C	ENSP00000414147:p.Asn226Ser					SPG20_uc010ten.1_Missense_Mutation_p.N226S|SPG20_uc001uvm.2_Missense_Mutation_p.N226S|SPG20_uc001uvo.2_Missense_Mutation_p.N226S|SPG20_uc001uvq.2_Missense_Mutation_p.N226S|SPG20_uc001uvp.2_Missense_Mutation_p.N226S	p.N226S	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	947	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	226					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.677A>G	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	T	6.233	0.411120	0.11812	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88201	-2.35;-2.35;-2.35	5.82	2.21	0.28008	.	0.423244	0.29980	N	0.010705	T	0.74794	0.3763	N	0.16602	0.42	0.09310	N	0.999999	B;B;B	0.19445	0.036;0.013;0.036	B;B;B	0.18263	0.021;0.007;0.021	T	0.56517	-0.7966	10	0.06099	T	0.92	-22.2218	8.9073	0.35532	0.0:0.3281:0.0:0.6719	.	226;226;226	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	S	226	ENSP00000406061:N226S;ENSP00000347314:N226S;ENSP00000414147:N226S	ENSP00000347314:N226S	N	-	2	0	SPG20	35807291	0.797000	0.28877	0.996000	0.52242	0.955000	0.61496	0.934000	0.28910	0.481000	0.27557	-0.256000	0.11100	AAT		0.423	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2		
CTSG	1511	broad.mit.edu	37	14	25043946	25043946	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:25043946G>A	ENST00000216336.2	-	3	310	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	92	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ATGGCTCTGCGCGCAGTGATG	0.532																																						uc001wpq.2																			0				ovary(2)	2						c.(274-276)CGC>TGC		cathepsin G preproprotein							210.0	168.0	182.0					14																	25043946		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043946G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.274C>T	14.37:g.25043946G>A	ENSP00000216336:p.Arg92Cys						p.R92C	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	311	-			92			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.274C>T	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371465	0.42003	.	.	ENSG00000100448	ENST00000216336	D	0.89196	-2.48	4.48	0.459	0.16678	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.097600	0.07224	N	0.861382	D	0.89238	0.6658	L	0.39898	1.24	0.09310	N	1	D	0.69078	0.997	D	0.66497	0.944	T	0.76214	-0.3041	10	0.56958	D	0.05	.	2.7097	0.05171	0.0919:0.1609:0.4158:0.3314	.	92	P08311	CATG_HUMAN	C	92	ENSP00000216336:R92C	ENSP00000216336:R92C	R	-	1	0	CTSG	24113786	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.594000	0.24014	0.083000	0.17047	-0.169000	0.13324	CGC		0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911	
ARHGAP5	394	broad.mit.edu	37	14	32560334	32560334	+	Silent	SNP	G	G	A	rs374638293		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:32560334G>A	ENST00000345122.3	+	2	774	c.459G>A	c.(457-459)aaG>aaA	p.K153K	ARHGAP5_ENST00000432921.1_Silent_p.K153K|ARHGAP5_ENST00000556611.1_Silent_p.K153K|ARHGAP5_ENST00000539826.2_Silent_p.K153K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	153					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGAAGGGAAGCTCAACGTAG	0.363																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2																			0				ovary(4)|central_nervous_system(1)	5						c.(457-459)AAG>AAA		Rho GTPase activating protein 5 isoform b		G	,	0,4406		0,0,2203	91.0	86.0	88.0		459,459	3.6	1.0	14		88	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	ARHGAP5	NM_001030055.1,NM_001173.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	153/1503,153/1502	32560334	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560334G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.459G>A	14.37:g.32560334G>A						ARHGAP5_uc001wrm.2_Silent_p.K153K|ARHGAP5_uc001wrn.2_Silent_p.K153K|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.K153K	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	698	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		153					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.459G>A	CCDS32062.1																																																																																				0.363	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
PTGDR	5729	broad.mit.edu	37	14	52735336	52735336	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:52735336G>A	ENST00000306051.2	+	1	906	c.804G>A	c.(802-804)gcG>gcA	p.A268A	PTGDR_ENST00000553372.1_Silent_p.A268A	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	268					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGCTGCTGGCGCTGATGACCG	0.687																																						uc001wzq.2																			0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(802-804)GCG>GCA		prostaglandin D2 receptor	Nedocromil(DB00716)						103.0	106.0	105.0					14																	52735336		2179	4244	6423	SO:0001819	synonymous_variant	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735336G>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.804G>A	14.37:g.52735336G>A							p.A268A	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	906	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		268			Helical; Name=6; (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	ENST00000306051.2	37	c.804G>A	CCDS9707.1																																																																																				0.687	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953	
CDAN1	146059	broad.mit.edu	37	15	43028860	43028860	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:43028860delG	ENST00000356231.3	-	2	232	c.209delC	c.(208-210)ccgfs	p.P70fs		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	70					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGCGGGGGTCGGGGGCCCCTG	0.736																																						uc001zql.2																			0				ovary(2)	2						c.(208-210)CCGfs		codanin 1							3.0	3.0	3.0					15																	43028860		1461	3168	4629	SO:0001589	frameshift_variant	146059					integral to membrane	protein binding	g.chr15:43028860delG	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.209delC	15.37:g.43028860delG	ENSP00000348564:p.Pro70fs					CDAN1_uc001zqk.2_5'Flank|CDAN1_uc010bcx.1_5'Flank|uc001zqm.2_5'Flank	p.P70fs	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	2	326	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	70					Q6NYD0|Q7Z7L5|Q969N3	Frame_Shift_Del	DEL	ENST00000356231.3	37	c.209delC	CCDS32209.1																																																																																				0.736	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300	
TGM7	116179	broad.mit.edu	37	15	43571424	43571424	+	Missense_Mutation	SNP	G	G	A	rs369585501		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:43571424G>A	ENST00000452443.2	-	11	1734	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	577					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.T577M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTTTTCGTCCGTTAGCTTGTT	0.527																																						uc001zrf.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(1729-1731)ACG>ATG		transglutaminase 7	L-Glutamine(DB00130)	G	MET/THR	0,4404		0,0,2202	88.0	75.0	79.0		1730	2.4	0.8	15		79	1,8597	1.2+/-3.3	0,1,4298	no	missense	TGM7	NM_052955.2	81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	577/711	43571424	1,13001	2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43571424G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1730C>T	15.37:g.43571424G>A	ENSP00000389466:p.Thr577Met						p.T577M	NM_052955	NP_443187	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	11	1735	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	577						Missense_Mutation	SNP	ENST00000452443.2	37	c.1730C>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.065996	0.55539	0.0	1.16E-4	ENSG00000159495	ENST00000452443	T	0.33216	1.42	5.42	2.36	0.29203	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.393578	0.26746	N	0.022704	T	0.43523	0.1251	M	0.74647	2.275	0.09310	N	1	D	0.76494	0.999	P	0.60117	0.869	T	0.16217	-1.0410	10	0.46703	T	0.11	-8.078	4.7992	0.13289	0.1956:0.1919:0.6125:0.0	.	577	Q96PF1	TGM7_HUMAN	M	577	ENSP00000389466:T577M	ENSP00000389466:T577M	T	-	2	0	TGM7	41358716	0.998000	0.40836	0.830000	0.32933	0.909000	0.53808	2.101000	0.41787	1.292000	0.44672	0.655000	0.94253	ACG		0.527	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	
ATP8B4	79895	broad.mit.edu	37	15	50226281	50226281	+	Silent	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:50226281G>T	ENST00000284509.6	-	15	1527	c.1386C>A	c.(1384-1386)ccC>ccA	p.P462P	ATP8B4_ENST00000559829.1_Silent_p.P462P	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	462						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATGAACTTTGGGATCACCCA	0.413																																						uc001zxu.2																			0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1384-1386)CCC>CCA		ATPase class I type 8B member 4							132.0	126.0	128.0					15																	50226281		2196	4295	6491	SO:0001819	synonymous_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50226281G>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1386C>A	15.37:g.50226281G>T						ATP8B4_uc010ber.2_Silent_p.P335P|ATP8B4_uc010ufd.1_Silent_p.P335P|ATP8B4_uc010ufe.1_RNA	p.P462P	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	15	1528	-		all_lung(180;0.00183)	462			Cytoplasmic (Potential).		Q9H727	Silent	SNP	ENST00000284509.6	37	c.1386C>A	CCDS32238.1																																																																																				0.413	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
NEDD4	4734	broad.mit.edu	37	15	56207523	56207523	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:56207523T>G	ENST00000508342.1	-	1	1806	c.1507A>C	c.(1507-1509)Agc>Cgc	p.S503R	NEDD4_ENST00000506154.1_Missense_Mutation_p.S503R|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.S503R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	503					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCTCTGTTGCTGTCTCTTGAT	0.338																																						uc002adj.2																			0				skin(2)|ovary(1)|breast(1)	4						c.(1507-1509)AGC>CGC		neural precursor cell expressed, developmentally							112.0	114.0	113.0					15																	56207523		2192	4291	6483	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56207523T>G	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1507A>C	15.37:g.56207523T>G	ENSP00000424827:p.Ser503Arg					NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.S503R|NEDD4_uc010ugj.1_Missense_Mutation_p.S503R|NEDD4_uc010bfm.2_Missense_Mutation_p.S503R|NEDD4_uc002adk.2_RNA	p.S503R	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	1807	-			503					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.1507A>C		.	.	.	.	.	.	.	.	.	.	T	11.48	1.650686	0.29336	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.23552	1.9;1.95;1.91	4.65	3.5	0.40072	.	5.160690	0.01092	U	0.005192	T	0.31918	0.0812	L	0.54323	1.7	0.09310	N	1	B;B;B	0.31040	0.001;0.001;0.305	B;B;B	0.32342	0.003;0.001;0.144	T	0.32161	-0.9917	10	0.54805	T	0.06	.	9.6145	0.39683	0.0:0.0844:0.0:0.9156	.	503;503;503	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	R	503	ENSP00000424827:S503R;ENSP00000345530:S503R;ENSP00000422705:S503R	ENSP00000345530:S503R	S	-	1	0	NEDD4	53994815	0.954000	0.32549	0.007000	0.13788	0.995000	0.86356	1.972000	0.40540	0.623000	0.30267	0.377000	0.23210	AGC		0.338	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
KIAA1024	23251	broad.mit.edu	37	15	79748562	79748562	+	Missense_Mutation	SNP	G	G	A	rs200499208		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:79748562G>A	ENST00000305428.3	+	2	148	c.73G>A	c.(73-75)Gtt>Att	p.V25I		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	25						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCAAAATACCGTTTCTTATCA	0.478																																						uc002bew.1																			0				pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(73-75)GTT>ATT		hypothetical protein LOC23251							113.0	104.0	107.0					15																	79748562		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79748562G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.73G>A	15.37:g.79748562G>A	ENSP00000307461:p.Val25Ile					KIAA1024_uc010unk.1_Missense_Mutation_p.V25I	p.V25I	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	148	+			25					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.73G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216577	0.39201	.	.	ENSG00000169330	ENST00000305428	T	0.34859	1.34	5.71	3.83	0.44106	.	0.277172	0.35495	N	0.003180	T	0.27967	0.0689	L	0.40543	1.245	0.09310	N	0.999993	B	0.18968	0.032	B	0.10450	0.005	T	0.13495	-1.0507	9	.	.	.	.	11.5706	0.50832	0.1433:0.0:0.8567:0.0	.	25	Q9UPX6	K1024_HUMAN	I	25	ENSP00000307461:V25I	.	V	+	1	0	KIAA1024	77535617	0.997000	0.39634	0.008000	0.14137	0.937000	0.57800	2.539000	0.45718	1.409000	0.46915	0.467000	0.42956	GTT		0.478	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
ADAMTSL3	57188	broad.mit.edu	37	15	84659966	84659966	+	Splice_Site	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:84659966G>T	ENST00000286744.5	+	23	4197	c.3973G>T	c.(3973-3975)Ggt>Tgt	p.G1325C	AC027807.1_ENST00000408557.1_RNA|ADAMTSL3_ENST00000567476.1_Splice_Site_p.G1325C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1325	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCTGTAAAAGGTAAGTGTGG	0.502																																						uc002bjz.3																			0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(3973-3975)GGT>TGT		ADAMTS-like 3 precursor							205.0	188.0	194.0					15																	84659966		2203	4299	6502	SO:0001630	splice_region_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84659966G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3973+1G>T	15.37:g.84659966G>T						ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1325C|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G1325C	p.G1325C	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		23	4197	+			1325			Ig-like C2-type 3.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3973G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771109	0.69992	.	.	ENSG00000156218	ENST00000286744	T	0.80123	-1.34	5.21	5.21	0.72293	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94152	0.8124	H	0.98646	4.29	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.951	D	0.96512	0.9379	9	0.87932	D	0	.	18.774	0.91902	0.0:0.0:1.0:0.0	.	1325;1325	P82987-2;P82987	.;ATL3_HUMAN	C	1325	ENSP00000286744:G1325C	ENSP00000286744:G1325C	G	+	1	0	ADAMTSL3	82450970	1.000000	0.71417	0.892000	0.35008	0.657000	0.38888	5.562000	0.67346	2.415000	0.81967	0.561000	0.74099	GGT		0.502	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	Missense_Mutation
CHD9	80205	broad.mit.edu	37	16	53338029	53338037	+	In_Frame_Del	DEL	TAAAGGTAT	TAAAGGTAT	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr16:53338029_53338037delTAAAGGTAT	ENST00000398510.3	+	30	6198_6206	c.6111_6119delTAAAGGTAT	c.(6109-6120)gctaaaggtatt>gct	p.KGI2038del	CHD9_ENST00000447540.1_In_Frame_Del_p.KGI2038del|CHD9_ENST00000564845.1_In_Frame_Del_p.KGI2038del|CHD9_ENST00000566029.1_In_Frame_Del_p.KGI2038del			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2038					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCCTAGATGCTAAAGGTATTATTCTAGAG	0.407																																						uc002ehb.2																			0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(6109-6120)GCTAAAGGTATT>GCT		chromodomain helicase DNA binding protein 9																																				SO:0001651	inframe_deletion	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53338029_53338037delTAAAGGTAT	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6111_6119delTAAAGGTAT	16.37:g.53338029_53338037delTAAAGGTAT	ENSP00000381522:p.Lys2038_Ile2040del					CHD9_uc002egy.2_In_Frame_Del_p.KGI2038del|CHD9_uc002ehc.2_In_Frame_Del_p.KGI2038del|CHD9_uc002ehf.2_In_Frame_Del_p.KGI1152del|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_In_Frame_Del_p.KGI44del	p.KGI2038del	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			30	6275_6283	+		all_cancers(37;0.0212)	2038_2040					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	In_Frame_Del	DEL	ENST00000398510.3	37	c.6111_6119delTAAAGGTAT																																																																																					0.407	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
PRDM7	11105	broad.mit.edu	37	16	90160836	90160836	+	5'Flank	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr16:90160836C>T	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000564451.1_RNA|TUBB8P7_ENST00000567960.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGCGCGTCAACGTGCACCACC	0.701																																						uc002fqp.2																			0											c.(307-309)AAC>AAT		Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																																				SO:0001631	upstream_gene_variant	0							g.chr16:90160836C>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160836C>T	Exception_encountered					uc002fqq.2_Silent_p.N48N	p.N103N							2	787	+								A4Q9G8|Q08EM4|Q9NQW4	Silent	SNP	ENST00000569206.1	37	c.309C>T																																																																																					0.701	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1		
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					uc002fqp.2																			3	Substitution - Missense(3)		urinary_tract(1)|prostate(1)|kidney(1)								c.(451-453)ACG>ACA		Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																																						0							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						uc002fqq.2_Silent_p.T168T	p.T151T							3	931	+									Silent	SNP	ENST00000564451.1	37	c.453G>A																																																																																					0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334	
MYH13	8735	broad.mit.edu	37	17	10209843	10209843	+	Missense_Mutation	SNP	C	C	T	rs187155752	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:10209843C>T	ENST00000418404.3	-	36	5562	c.5399G>A	c.(5398-5400)cGt>cAt	p.R1800H	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1800H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1800					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCATCTAGACGGTGCTGCAG	0.547													C|||	7	0.00139776	0.0	0.0	5008	,	,		17774	0.0069		0.0	False		,,,				2504	0.0					uc002gmk.1																			0				ovary(4)|skin(2)	6						c.(5398-5400)CGT>CAT		myosin, heavy polypeptide 13, skeletal muscle							164.0	167.0	166.0					17																	10209843		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209843C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5399G>A	17.37:g.10209843C>T	ENSP00000404570:p.Arg1800His						p.R1800H	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			37	5489	-			1800			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5399G>A	CCDS45613.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	29.2	4.985848	0.93044	.	.	ENSG00000006788	ENST00000252172	D	0.82526	-1.62	4.31	4.31	0.51392	Myosin tail (1);	.	.	.	.	D	0.92802	0.7711	H	0.97918	4.105	0.47949	D	0.999559	D	0.89917	1.0	D	0.87578	0.998	D	0.95033	0.8171	9	0.87932	D	0	.	17.3485	0.87316	0.0:1.0:0.0:0.0	.	1800	Q9UKX3	MYH13_HUMAN	H	1800	ENSP00000252172:R1800H	ENSP00000252172:R1800H	R	-	2	0	MYH13	10150568	0.998000	0.40836	1.000000	0.80357	0.926000	0.56050	3.924000	0.56476	2.395000	0.81488	0.561000	0.74099	CGT		0.547	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH8	4626	broad.mit.edu	37	17	10322097	10322097	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:10322097C>A	ENST00000403437.2	-	5	470	c.376G>T	c.(376-378)Gtc>Ttc	p.V126F	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	126	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGACGGTGACACAGAAGAGG	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				skin(6)|ovary(3)|breast(2)	11						c.(376-378)GTC>TTC		myosin, heavy chain 8, skeletal muscle,							53.0	59.0	57.0					17																	10322097		2198	4279	6477	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10322097C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.376G>T	17.37:g.10322097C>A	ENSP00000384330:p.Val126Phe					uc002gml.1_Intron	p.V126F	NM_002472	NP_002463	P13535	MYH8_HUMAN			5	471	-			126			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.376G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562980	0.65538	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.91351	-2.83	3.73	3.73	0.42828	Myosin head, motor domain (3);	0.000000	0.37577	U	0.002024	D	0.94709	0.8293	H	0.96430	3.82	0.58432	D	0.99999	B	0.27068	0.167	B	0.37601	0.254	D	0.95772	0.8809	10	0.87932	D	0	.	16.034	0.80608	0.0:1.0:0.0:0.0	.	126	P13535	MYH8_HUMAN	F	126	ENSP00000384330:V126F	ENSP00000252173:V126F	V	-	1	0	MYH8	10262822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.518000	0.81795	2.085000	0.62840	0.585000	0.79938	GTC		0.512	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
AOC2	314	broad.mit.edu	37	17	41001205	41001205	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:41001205T>G	ENST00000253799.3	+	2	1718	c.1691T>G	c.(1690-1692)gTc>gGc	p.V564G	AOC2_ENST00000452774.2_Missense_Mutation_p.V564G|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	564					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACTCGGCAGGTCCTGGGAAAG	0.597																																						uc002ibu.2																			0				ovary(2)	2						c.(1690-1692)GTC>GGC		amine oxidase, copper containing 2 isoform b							41.0	43.0	42.0					17																	41001205		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41001205T>G	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1691T>G	17.37:g.41001205T>G	ENSP00000253799:p.Val564Gly					AOC2_uc002ibt.2_Missense_Mutation_p.V564G|AOC3_uc002ibv.2_5'Flank	p.V564G	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	2	1726	+		Breast(137;0.000143)	564					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.1691T>G	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344690	0.24426	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.04406	3.63;3.63	5.15	4.05	0.47172	Copper amine oxidase, C-terminal (3);	0.695067	0.14544	N	0.313137	T	0.07098	0.0180	L	0.50333	1.59	0.54753	D	0.999989	P;P	0.41188	0.741;0.696	B;B	0.43018	0.405;0.283	T	0.43766	-0.9371	10	0.18276	T	0.48	-29.7285	11.1662	0.48545	0.0:0.0734:0.0:0.9266	.	564;564	O75106;O75106-2	AOC2_HUMAN;.	G	564	ENSP00000253799:V564G;ENSP00000406134:V564G	ENSP00000253799:V564G	V	+	2	0	AOC2	38254731	0.024000	0.19004	1.000000	0.80357	0.392000	0.30506	0.918000	0.28678	2.151000	0.67156	0.533000	0.62120	GTC		0.597	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158	
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						uc002ild.3																			0				lung(2)|breast(2)|ovary(1)	5						c.(1360-1362)CTAfs		cell division cycle protein 27 isoform 2							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	p.L454fs	NM_001256	NP_001247	P30260	CDC27_HUMAN			11	1488	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
XYLT2	64132	broad.mit.edu	37	17	48435599	48435599	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:48435599T>C	ENST00000017003.2	+	10	2022	c.1973T>C	c.(1972-1974)cTt>cCt	p.L658P	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	658					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AAAGAGCGTCTTTTCCGGAAC	0.637																																						uc002iqo.2																			0				pancreas(1)	1						c.(1972-1974)CTT>CCT		xylosyltransferase II							20.0	21.0	21.0					17																	48435599		2203	4298	6501	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48435599T>C	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1973T>C	17.37:g.48435599T>C	ENSP00000017003:p.Leu658Pro					XYLT2_uc010dbo.2_RNA	p.L658P	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			10	2082	+	Breast(11;7.18e-19)		658			Lumenal (Potential).		Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.1973T>C	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852984	0.51270	.	.	ENSG00000015532	ENST00000017003	T	0.50548	0.74	4.63	4.63	0.57726	.	0.179023	0.48286	D	0.000187	T	0.59702	0.2213	L	0.42245	1.32	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.63699	-0.6578	10	0.87932	D	0	-6.2991	14.2199	0.65820	0.0:0.0:0.0:1.0	.	658	Q9H1B5	XYLT2_HUMAN	P	658	ENSP00000017003:L658P	ENSP00000017003:L658P	L	+	2	0	XYLT2	45790598	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.778000	0.85637	1.960000	0.56953	0.459000	0.35465	CTT		0.637	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167	
RNF43	54894	broad.mit.edu	37	17	56492699	56492699	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:56492699T>C	ENST00000584437.1	-	1	2195	c.240A>G	c.(238-240)ggA>ggG	p.G80G	RNF43_ENST00000580014.1_5'Flank|RNF43_ENST00000500597.2_Silent_p.G80G|RNF43_ENST00000583753.1_Silent_p.G80G|RNF43_ENST00000407977.2_Silent_p.G80G|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Silent_p.G80G|RNF43_ENST00000581868.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	80					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCATTAATTTTCCTTCTGCTG	0.378																																						uc002iwf.2																			0				ovary(1)	1						c.(238-240)GGA>GGG		ring finger protein 43 precursor							62.0	61.0	62.0					17																	56492699		2203	4300	6503	SO:0001819	synonymous_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492699T>C		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.240A>G	17.37:g.56492699T>C						RNF43_uc010wnv.1_Silent_p.G80G|RNF43_uc002iwh.3_Silent_p.G80G|RNF43_uc002iwg.3_Silent_p.G80G|RNF43_uc010dcw.2_Intron	p.G80G	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			1	2196	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		80			Extracellular (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	c.240A>G	CCDS11607.1																																																																																				0.378	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
DDX5	1655	broad.mit.edu	37	17	62502217	62502217	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:62502217G>C	ENST00000225792.5	-	1	422	c.21C>G	c.(19-21)gaC>gaG	p.D7E	DDX5_ENST00000578804.1_5'Flank|CEP95_ENST00000556440.2_5'Flank|CEP95_ENST00000553412.1_5'Flank|CEP95_ENST00000581056.1_5'Flank|DDX5_ENST00000450599.2_Missense_Mutation_p.D7E	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	7					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CGCGGTCTCGGTCACTCGAAT	0.657			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc002jek.2				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				ovary(2)|lung(1)	3						c.(19-21)GAC>GAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 5							29.0	28.0	28.0					17																	62502217		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62502217G>C	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.21C>G	17.37:g.62502217G>C	ENSP00000225792:p.Asp7Glu					CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_5'Flank|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.D7E|DDX5_uc002jel.1_5'Flank	p.D7E	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		1	268	-	Breast(5;2.15e-14)		7					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.21C>G	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840503	0.51057	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	T;T;T	0.29397	1.57;1.57;1.57	5.53	4.56	0.56223	.	0.902894	0.09392	N	0.808480	T	0.37892	0.1020	M	0.78916	2.43	0.80722	D	1	B;B	0.13145	0.007;0.003	B;B	0.08055	0.003;0.003	T	0.17258	-1.0375	10	0.51188	T	0.08	-2.4128	10.4698	0.44629	0.0706:0.0:0.7955:0.1339	.	7;7	B4DLW8;P17844	.;DDX5_HUMAN	E	7	ENSP00000440276:D7E;ENSP00000403085:D7E;ENSP00000225792:D7E	ENSP00000225792:D7E	D	-	3	2	DDX5	59932679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.506000	0.60428	1.334000	0.45468	0.561000	0.74099	GAC		0.657	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	
LAMA1	284217	broad.mit.edu	37	18	6956660	6956660	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:6956660A>T	ENST00000389658.3	-	56	8162	c.8069T>A	c.(8068-8070)cTc>cAc	p.L2690H	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2690					axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTCTGGCAAGAGCTTGCTGTC	0.552																																						uc002knm.2																			0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(8068-8070)CTC>CAC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						65.0	70.0	68.0					18																	6956660		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6956660A>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8069T>A	18.37:g.6956660A>T	ENSP00000374309:p.Leu2690His					LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.L143H|LAMA1_uc010wzj.1_Missense_Mutation_p.L2166H	p.L2690H	NM_005559	NP_005550	P25391	LAMA1_HUMAN			56	8163	-		Colorectal(10;0.172)	2690						Missense_Mutation	SNP	ENST00000389658.3	37	c.8069T>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951513	0.53186	.	.	ENSG00000101680	ENST00000389658;ENST00000344342	T	0.18960	2.18	5.48	-0.164	0.13359	.	0.967927	0.08465	N	0.941811	T	0.15392	0.0371	L	0.29908	0.895	0.09310	N	1	B	0.18968	0.032	B	0.14578	0.011	T	0.32322	-0.9911	10	0.56958	D	0.05	.	8.4255	0.32727	0.5558:0.3769:0.0673:0.0	.	2690	P25391	LAMA1_HUMAN	H	2690;141	ENSP00000374309:L2690H	ENSP00000341000:L141H	L	-	2	0	LAMA1	6946660	0.495000	0.26051	0.000000	0.03702	0.009000	0.06853	0.860000	0.27871	0.031000	0.15407	0.533000	0.62120	CTC		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
RIT2	6014	broad.mit.edu	37	18	40554049	40554049	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:40554049G>T	ENST00000326695.5	-	3	395	c.224C>A	c.(223-225)aCt>aAt	p.T75N	RIT2_ENST00000589109.1_Missense_Mutation_p.T75N|RIT2_ENST00000282028.4_Missense_Mutation_p.T75N|RIT2_ENST00000590910.1_Missense_Mutation_p.T75N	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	75					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGCCAGCAGTGTCCAAGAT	0.368																																						uc002lav.2																			0				ovary(1)	1						c.(223-225)ACT>AAT		Ras-like without CAAX 2							77.0	67.0	70.0					18																	40554049		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40554049G>T	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.224C>A	18.37:g.40554049G>T	ENSP00000321805:p.Thr75Asn					RIT2_uc010dnf.2_Missense_Mutation_p.T75N	p.T75N	NM_002930	NP_002921	Q99578	RIT2_HUMAN			3	397	-			75			GTP (By similarity).		B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.224C>A	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155530	0.78114	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	D;D	0.87966	-2.32;-2.32	5.44	5.44	0.79542	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000006	D	0.96769	0.8945	H	0.99659	4.685	0.49687	D	0.99981	D;D	0.76494	0.998;0.999	D;D	0.77557	0.99;0.987	D	0.98329	1.0532	10	0.87932	D	0	.	16.3346	0.83053	0.0:0.0:1.0:0.0	.	75;75	Q99578-2;Q99578	.;RIT2_HUMAN	N	75	ENSP00000321805:T75N;ENSP00000282028:T75N	ENSP00000282028:T75N	T	-	2	0	RIT2	38808047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.574000	0.67424	2.700000	0.92200	0.655000	0.94253	ACT		0.368	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930	
BCL2	596	broad.mit.edu	37	18	60795928	60795929	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:60795928_60795929delAG	ENST00000398117.1	-	2	2110_2111	c.649_650delCT	c.(649-651)ctgfs	p.L217fs	BCL2_ENST00000333681.4_Frame_Shift_Del_p.L217fs|BCL2_ENST00000590515.1_5'UTR	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	217					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CAGAGTCTTCAGAGACAGCCAG	0.545			T	IGH@	"""NHL, CLL"""																																	uc002lit.1				Dom	yes		18	18q21.3	596	T	B-cell CLL/lymphoma 2			L	IGH@		NHL|CLL		0				central_nervous_system(1)	1						c.(649-651)CTGfs		B-cell lymphoma protein 2 alpha isoform	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)																																			SO:0001589	frameshift_variant	596				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	g.chr18:60795928_60795929delAG	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	990	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 50"""	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.649_650delCT	18.37:g.60795930_60795931delAG	ENSP00000381185:p.Leu217fs					BCL2_uc002liu.1_Frame_Shift_Del_p.L217fs	p.L217fs	NM_000633	NP_000624	P10415	BCL2_HUMAN		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	3	1142_1143	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	217			Helical; (Potential).		C9JHD5|P10416|Q13842|Q16197	Frame_Shift_Del	DEL	ENST00000398117.1	37	c.649_650delCT	CCDS11981.1																																																																																				0.545	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657	
DNM2	1785	broad.mit.edu	37	19	10886491	10886491	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:10886491G>A	ENST00000355667.6	+	4	578	c.498G>A	c.(496-498)cgG>cgA	p.R166R	DNM2_ENST00000408974.4_Silent_p.R166R|DNM2_ENST00000314646.5_Silent_p.R166R|DNM2_ENST00000389253.4_Silent_p.R166R|DNM2_ENST00000585892.1_Silent_p.R166R|DNM2_ENST00000359692.6_Silent_p.R166R|DNM2_ENST00000591819.1_3'UTR	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	166	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCATCAGCCGGGAGAGCAGCC	0.607			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1				Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(496-498)CGG>CGA		dynamin 2 isoform 2							101.0	92.0	95.0					19																	10886491		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10886491G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.498G>A	19.37:g.10886491G>A						DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.R166R|DNM2_uc002mpv.1_Silent_p.R166R|DNM2_uc002mpu.1_Silent_p.R166R|DNM2_uc010dxl.1_Silent_p.R166R	p.R166R	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		4	662	+			166					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.498G>A	CCDS45968.1																																																																																				0.607	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	
RGL3	57139	broad.mit.edu	37	19	11526753	11526753	+	Missense_Mutation	SNP	G	G	A	rs202085360		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:11526753G>A	ENST00000380456.3	-	5	560	c.497C>T	c.(496-498)tCg>tTg	p.S166L	RGL3_ENST00000393423.3_Missense_Mutation_p.S166L	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	166	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCCCAGGTCCGAATGGGCAGG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		14333	0.0		0.0	False		,,,				2504	0.001				GBM(174;751 2067 17998 27979 33959)	uc002mrp.2																			0				ovary(1)	1						c.(496-498)TCG>TTG		ral guanine nucleotide dissociation							32.0	39.0	36.0					19																	11526753		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11526753G>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.497C>T	19.37:g.11526753G>A	ENSP00000369823:p.Ser166Leu					RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Missense_Mutation_p.S166L	p.S166L	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			5	561	-			166			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.497C>T	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601954	0.28534	.	.	ENSG00000205517	ENST00000393423;ENST00000380456	T;T	0.42513	1.12;0.97	4.88	2.6	0.31112	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.726083	0.13555	N	0.379194	T	0.29423	0.0733	L	0.33485	1.01	0.09310	N	1	P;P	0.50710	0.82;0.938	B;B	0.40782	0.34;0.289	T	0.09100	-1.0690	10	0.51188	T	0.08	.	6.8647	0.24086	0.0862:0.0:0.5905:0.3233	.	166;166	Q3MIN7;B5ME84	RGL3_HUMAN;.	L	166	ENSP00000377075:S166L;ENSP00000369823:S166L	ENSP00000369823:S166L	S	-	2	0	RGL3	11387753	0.001000	0.12720	0.007000	0.13788	0.347000	0.29111	0.377000	0.20552	0.381000	0.24851	0.511000	0.50034	TCG		0.617	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867	
ZNF433	163059	broad.mit.edu	37	19	12126556	12126556	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:12126556delA	ENST00000344980.6	-	4	1296	c.1126delT	c.(1126-1128)tatfs	p.Y376fs	ZNF433_ENST00000419886.2_Frame_Shift_Del_p.Y341fs|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CTGGGAGAATAAAAGGCTTTC	0.373																																						uc002msy.1																			0					0						c.(1126-1128)TATfs		zinc finger protein 433							38.0	43.0	41.0					19																	12126556		2180	4284	6464	SO:0001589	frameshift_variant	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126556delA	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1126delT	19.37:g.12126556delA	ENSP00000339767:p.Tyr376fs					uc002msx.1_Intron|ZNF433_uc002msz.1_Frame_Shift_Del_p.Y341fs	p.Y376fs	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN			4	1297	-			376			C2H2-type 9.		Q86VX3	Frame_Shift_Del	DEL	ENST00000344980.6	37	c.1126delT	CCDS45983.1																																																																																				0.373	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602	
PEG3	5178	broad.mit.edu	37	19	57325278	57325278	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:57325278G>C	ENST00000326441.9	-	10	4895	c.4532C>G	c.(4531-4533)aCa>aGa	p.T1511R	PEG3_ENST00000423103.2_Missense_Mutation_p.T1511R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T1387R|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T1385R|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1511	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAGGTTTCTGTGCATTCATG	0.483																																						uc002qnu.2																			0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4531-4533)ACA>AGA		paternally expressed 3 isoform 1							178.0	162.0	167.0					19																	57325278		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325278G>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4532C>G	19.37:g.57325278G>C	ENSP00000326581:p.Thr1511Arg					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.T1482R|PEG3_uc002qnv.2_Missense_Mutation_p.T1511R|PEG3_uc002qnw.2_Missense_Mutation_p.T1387R|PEG3_uc002qnx.2_Missense_Mutation_p.T1385R|PEG3_uc010etr.2_Missense_Mutation_p.T1511R	p.T1511R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4883	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1511			Glu-rich.|C2H2-type 11.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4532C>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038270	0.35989	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.27720	1.65;1.65	3.94	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.996520	0.08124	N	0.994289	T	0.21227	0.0511	N	0.05124	-0.11	.	.	.	P;P;P	0.44309	0.832;0.586;0.586	P;B;B	0.45998	0.5;0.377;0.377	T	0.18304	-1.0341	9	0.54805	T	0.06	-3.1986	8.8605	0.35253	0.0:0.359:0.641:0.0	.	1387;1511;1446	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	R	1511	ENSP00000326581:T1511R;ENSP00000403051:T1511R	ENSP00000326581:T1511R	T	-	2	0	ZIM2	62017090	0.003000	0.15002	0.017000	0.16124	0.895000	0.52256	1.527000	0.35975	1.227000	0.43598	0.585000	0.79938	ACA		0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
SEMA4F	10505	broad.mit.edu	37	2	74900663	74900663	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:74900663G>A	ENST00000357877.2	+	6	779	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	210	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCGTGCCGAGGACTGGATTC	0.612																																						uc002sna.1																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(628-630)GAG>GAA		semaphorin W precursor							69.0	62.0	64.0					2																	74900663		2203	4300	6503	SO:0001819	synonymous_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74900663G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.630G>A	2.37:g.74900663G>A						SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Silent_p.E177E|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	p.E210E	NM_004263	NP_004254	O95754	SEM4F_HUMAN			6	741	+			210			Sema.|Extracellular (Potential).		Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	37	c.630G>A	CCDS1955.1																																																																																				0.612	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
REV1	51455	broad.mit.edu	37	2	100065960	100065960	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:100065960G>C	ENST00000258428.3	-	4	416	c.188C>G	c.(187-189)tCc>tGc	p.S63C	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.S63C	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	63	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCTCAGCGGAAGGATCTGC	0.313								Direct reversal of damage																														uc002tad.2																			0				ovary(2)	2						c.(187-189)TCC>TGC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							67.0	69.0	68.0					2																	100065960		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100065960G>C	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.188C>G	2.37:g.100065960G>C	ENSP00000258428:p.Ser63Cys					REV1_uc002tac.2_Missense_Mutation_p.S63C|REV1_uc002tae.1_Missense_Mutation_p.S42C	p.S63C	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			4	400	-			63			BRCT.		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.188C>G	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285818	0.80803	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.80033	-1.33;-1.33	6.07	6.07	0.98685	BRCT (4);	0.142736	0.64402	D	0.000007	D	0.91851	0.7421	M	0.88906	2.99	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.75020	0.985;0.971;0.967	D	0.92040	0.5640	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	42;63;63	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	C	63	ENSP00000377091:S63C;ENSP00000258428:S63C	ENSP00000258428:S63C	S	-	2	0	REV1	99432392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.916000	0.75776	2.885000	0.99019	0.655000	0.94253	TCC		0.313	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	
CNTNAP5	129684	broad.mit.edu	37	2	125530548	125530548	+	Silent	SNP	G	G	A	rs536438687		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:125530548G>A	ENST00000431078.1	+	17	3067	c.2703G>A	c.(2701-2703)tcG>tcA	p.S901S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	901	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGAGACGTCGGAGGAGGGCC	0.532													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17184	0.0		0.0	False		,,,				2504	0.0					uc002tno.2																			0				ovary(10)	10						c.(2701-2703)TCG>TCA		contactin associated protein-like 5 precursor							125.0	119.0	121.0					2																	125530548		1925	4133	6058	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530548G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2703G>A	2.37:g.125530548G>A						CNTNAP5_uc010flu.2_Silent_p.S902S	p.S901S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	3067	+			901			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2703G>A	CCDS46401.1																																																																																				0.532	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
POTEE	445582	broad.mit.edu	37	2	132021658	132021658	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:132021658G>A	ENST00000356920.5	+	15	2724	c.2630G>A	c.(2629-2631)cGc>cAc	p.R877H	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	877	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCCACCCTGCGCCTAGACCTG	0.612																																						uc002tsn.2																			0					0						c.(2629-2631)CGC>CAC		protein expressed in prostate, ovary, testis,							28.0	30.0	29.0					2																	132021658		2171	4240	6411	SO:0001583	missense	445582						ATP binding	g.chr2:132021658G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2630G>A	2.37:g.132021658G>A	ENSP00000439189:p.Arg877His					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R477H|POTEE_uc002tsl.2_Missense_Mutation_p.R459H|POTEE_uc010fmy.1_Missense_Mutation_p.R341H	p.R877H	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2682	+			877			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2630G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	11.54	1.670073	0.29693	.	.	ENSG00000188219	ENST00000356920	D	0.94966	-3.57	.	.	.	.	.	.	.	.	D	0.92067	0.7486	M	0.87900	2.915	0.80722	D	1	D	0.62365	0.991	B	0.36885	0.235	D	0.88086	0.2810	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	877	Q6S8J3	POTEE_HUMAN	H	877	ENSP00000439189:R877H	ENSP00000439189:R877H	R	+	2	0	AC131180.1	131738128	1.000000	0.71417	0.094000	0.20943	0.095000	0.18619	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	CGC		0.612	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
TTN	7273	broad.mit.edu	37	2	179458769	179458769	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:179458769G>A	ENST00000591111.1	-	247	53652	c.53428C>T	c.(53428-53430)Cgt>Tgt	p.R17810C	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10578C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10511C|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R19451C|TTN_ENST00000460472.2_Missense_Mutation_p.R10386C|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16883C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17810	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTGAACGTTTGGCCTTG	0.423																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(50647-50649)CGT>TGT		titin isoform N2-A							181.0	177.0	178.0					2																	179458769		2022	4191	6213	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458769G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53428C>T	2.37:g.179458769G>A	ENSP00000465570:p.Arg17810Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R10578C|TTN_uc010zfi.1_Missense_Mutation_p.R10511C|TTN_uc010zfj.1_Missense_Mutation_p.R10386C	p.R16883C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		246	50871	-			17810					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50647C>T		.	.	.	.	.	.	.	.	.	.	G	14.66	2.602997	0.46423	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	6.17	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71065	0.3296	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78427	-0.2208	9	0.87932	D	0	.	16.9799	0.86324	0.0:0.0:0.8638:0.1362	.	10386;10511;10578;17810	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	16883;10386;10578;10511;10384	ENSP00000343764:R16883C;ENSP00000434586:R10386C;ENSP00000340554:R10578C;ENSP00000352154:R10511C	ENSP00000340554:R10578C	R	-	1	0	TTN	179167015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.048000	0.49862	1.544000	0.49359	0.655000	0.94253	CGT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	broad.mit.edu	37	2	179720232	179720232	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:179720232delT	ENST00000420890.2	-	19	3019	c.2902delA	c.(2902-2904)accfs	p.T968fs	CCDC141_ENST00000295723.5_Frame_Shift_Del_p.T393fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	968										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAATCAGAGGTTTTATTACTA	0.284																																						uc002unf.1																			0				ovary(7)|pancreas(2)|skin(1)	10						c.(1177-1179)ACCfs		coiled-coil domain containing 141							62.0	66.0	64.0					2																	179720232		2202	4300	6502	SO:0001589	frameshift_variant	285025						protein binding	g.chr2:179720232delT	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2902delA	2.37:g.179720232delT	ENSP00000395995:p.Thr968fs						p.T393fs	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		9	1234	-			393			Potential.		H7C0P1|J3KNW6|Q8N8H3	Frame_Shift_Del	DEL	ENST00000420890.2	37	c.1177delA																																																																																					0.284	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
WDR75	84128	broad.mit.edu	37	2	190313200	190313200	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:190313200C>T	ENST00000314761.4	+	2	242	c.182C>T	c.(181-183)aCt>aTt	p.T61I		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	61						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AATCTGGTGACTGGAATCCAG	0.398																																						uc002uql.1																			0				ovary(2)	2						c.(181-183)ACT>ATT		WD repeat domain 75							143.0	128.0	133.0					2																	190313200		2203	4300	6503	SO:0001583	missense	84128					nucleolus		g.chr2:190313200C>T	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.182C>T	2.37:g.190313200C>T	ENSP00000314193:p.Thr61Ile					WDR75_uc002uqm.1_5'UTR|WDR75_uc002uqn.1_5'UTR	p.T61I	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		2	242	+			61			WD 2.		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.182C>T	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622270	0.87460	.	.	ENSG00000115368	ENST00000314761	T	0.63255	-0.03	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054481	0.64402	D	0.000001	T	0.69305	0.3096	M	0.64170	1.965	0.58432	D	0.999997	P	0.43885	0.82	P	0.49421	0.61	T	0.64188	-0.6466	10	0.27082	T	0.32	-17.0589	18.0094	0.89218	0.0:1.0:0.0:0.0	.	61	Q8IWA0	WDR75_HUMAN	I	61	ENSP00000314193:T61I	ENSP00000314193:T61I	T	+	2	0	WDR75	190021445	1.000000	0.71417	0.941000	0.38009	0.987000	0.75469	4.929000	0.63455	2.789000	0.95967	0.655000	0.94253	ACT		0.398	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168	
TRIP12	9320	broad.mit.edu	37	2	230683176	230683176	+	Silent	SNP	T	T	C	rs201680858		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:230683176T>C	ENST00000283943.5	-	8	1537	c.1359A>G	c.(1357-1359)caA>caG	p.Q453Q	TRIP12_ENST00000389045.3_Silent_p.Q156Q|TRIP12_ENST00000389044.4_Silent_p.Q501Q|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	453					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCTGAAGCTGTTGACTTTCAT	0.388																																						uc002vpw.1																			0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(1357-1359)CAA>CAG		thyroid hormone receptor interactor 12							135.0	133.0	134.0					2																	230683176		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230683176T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1359A>G	2.37:g.230683176T>C						TRIP12_uc002vpx.1_Silent_p.Q501Q|TRIP12_uc002vpy.1_Silent_p.Q156Q|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Silent_p.Q459Q	p.Q453Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	8	1468	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	453					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.1359A>G	CCDS33391.1																																																																																				0.388	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
ILKAP	80895	broad.mit.edu	37	2	239079263	239079263	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:239079263C>T	ENST00000254654.3	-	12	1268	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	365	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTGCAGGCTGCTTCGTAGCGG	0.637																																						uc002vxv.2																			0				ovary(3)	3						c.(1093-1095)GCA>ACA		integrin-linked kinase-associated protein							46.0	46.0	46.0					2																	239079263		2203	4300	6503	SO:0001583	missense	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239079263C>T	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.1093G>A	2.37:g.239079263C>T	ENSP00000254654:p.Ala365Thr					ILKAP_uc010zns.1_Missense_Mutation_p.A297T|ILKAP_uc002vxw.2_Missense_Mutation_p.A245T	p.A365T	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	12	1223	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	365			PP2C-like.		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	c.1093G>A	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930578	0.52866	.	.	ENSG00000132323	ENST00000254654	T	0.16457	2.34	5.69	5.69	0.88448	Protein phosphatase 2C-like (5);	0.048558	0.85682	D	0.000000	T	0.12774	0.0310	L	0.28115	0.83	0.80722	D	1	B	0.26318	0.146	B	0.29353	0.101	T	0.13548	-1.0505	10	0.12430	T	0.62	-2.3445	13.5499	0.61726	0.156:0.844:0.0:0.0	.	365	Q9H0C8	ILKAP_HUMAN	T	365	ENSP00000254654:A365T	ENSP00000254654:A365T	A	-	1	0	ILKAP	238744002	1.000000	0.71417	0.943000	0.38184	0.987000	0.75469	4.229000	0.58625	2.688000	0.91661	0.563000	0.77884	GCA		0.637	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768	
PTPRA	5786	broad.mit.edu	37	20	3002794	3002794	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:3002794G>A	ENST00000216877.6	+	14	1629	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	PTPRA_ENST00000425918.2_Missense_Mutation_p.G430D|PTPRA_ENST00000358719.4_Missense_Mutation_p.G275D|PTPRA_ENST00000399903.2_Missense_Mutation_p.G419D|PTPRA_ENST00000318266.5_Missense_Mutation_p.G410D|PTPRA_ENST00000380393.3_Missense_Mutation_p.G419D|PTPRA_ENST00000356147.3_Missense_Mutation_p.G410D	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	419	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACCCCGATCGGCATGCTCAAG	0.572																																						uc010zqd.1																			0				upper_aerodigestive_tract(1)	1						c.(1288-1290)GGC>GAC		protein tyrosine phosphatase, receptor type, A							175.0	141.0	152.0					20																	3002794		2203	4300	6503	SO:0001583	missense	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3002794G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1229G>A	20.37:g.3002794G>A	ENSP00000216877:p.Gly410Asp					PTPRA_uc002whj.2_Missense_Mutation_p.G419D|PTPRA_uc002whk.2_Missense_Mutation_p.G410D|PTPRA_uc002whl.2_Missense_Mutation_p.G410D|PTPRA_uc002whm.2_Missense_Mutation_p.G186D|PTPRA_uc002whn.2_Missense_Mutation_p.G410D|PTPRA_uc002who.2_Missense_Mutation_p.G82D	p.G430D	NM_002836	NP_002827	P18433	PTPRA_HUMAN			14	1606	+			419			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1289G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099541	0.94197	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	D	0.90229	0.6945	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.976;1.0;0.997	D	0.89780	0.3960	10	0.59425	D	0.04	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	430;419;410	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	D	419;410;419;275;29;430;410;410	ENSP00000369756:G419D;ENSP00000216877:G410D;ENSP00000382787:G419D;ENSP00000351559:G275D;ENSP00000393553:G430D;ENSP00000314568:G410D;ENSP00000348468:G410D	ENSP00000216877:G410D	G	+	2	0	PTPRA	2950794	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.763000	0.94921	0.561000	0.74099	GGC		0.572	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3		
RIN2	54453	broad.mit.edu	37	20	19981289	19981289	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:19981289C>T	ENST00000255006.6	+	12	2693	c.2544C>T	c.(2542-2544)aaC>aaT	p.N848N	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Silent_p.N366N	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	799	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AGGAGGTCAACAGTGGTTGCA	0.507																																						uc002wro.1																			0				lung(4)|ovary(1)	5						c.(2395-2397)AAC>AAT		Ras and Rab interactor 2							145.0	141.0	142.0					20																	19981289		2011	4194	6205	SO:0001819	synonymous_variant	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19981289C>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.2544C>T	20.37:g.19981289C>T						RIN2_uc010gcu.1_Silent_p.N366N|RIN2_uc010gcv.1_Silent_p.N593N	p.N799N	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			11	2433	+			799			Ras-associating.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	c.2397C>T	CCDS56182.1																																																																																				0.507	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1		
AURKA	6790	broad.mit.edu	37	20	54963223	54963223	+	Missense_Mutation	SNP	C	C	T	rs6069717	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:54963223C>T	ENST00000347343.2	-	2	298	c.31G>A	c.(31-33)Gga>Aga	p.G11R	AURKA_ENST00000395909.4_Missense_Mutation_p.G11R|AURKA_ENST00000371356.2_Missense_Mutation_p.G11R|AURKA_ENST00000395914.1_Missense_Mutation_p.G11R|AURKA_ENST00000395911.1_Missense_Mutation_p.G11R|AURKA_ENST00000395915.3_Missense_Mutation_p.G11R|AURKA_ENST00000395913.3_Missense_Mutation_p.G11R|AURKA_ENST00000312783.6_Missense_Mutation_p.G11R|AURKA_ENST00000395907.1_Missense_Mutation_p.G11R	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	11			G -> R (in dbSNP:rs6069717).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.G11*(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TTAACAGGTCCTGAAATGCAG	0.383																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	uc002xxd.1																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8						c.(31-33)GGA>AGA		serine/threonine protein kinase 6							109.0	116.0	114.0					20																	54963223		2203	4300	6503	SO:0001583	missense	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54963223C>T	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.31G>A	20.37:g.54963223C>T	ENSP00000216911:p.Gly11Arg					AURKA_uc002xxe.1_Missense_Mutation_p.G11R|AURKA_uc002xxf.1_Missense_Mutation_p.G11R|AURKA_uc002xxg.1_Missense_Mutation_p.G11R|AURKA_uc002xxh.1_Missense_Mutation_p.G11R|AURKA_uc002xxi.1_Missense_Mutation_p.G11R|AURKA_uc002xxj.1_Missense_Mutation_p.G11R|AURKA_uc002xxk.1_Missense_Mutation_p.G11R|AURKA_uc010zzd.1_RNA	p.G11R	NM_198433	NP_940835	O14965	AURKA_HUMAN	Colorectal(105;0.202)		4	597	-			11					E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	ENST00000347343.2	37	c.31G>A	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	1.637	-0.517522	0.04171	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249;ENST00000451915	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70164	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.46;0.01;2.72;2.48;2.45;2.18	4.59	3.64	0.41730	.	0.401886	0.21909	N	0.067334	T	0.44953	0.1318	N	0.16098	0.37	0.22819	N	0.998695	B;B;B;B;B;B;B	0.27140	0.018;0.169;0.006;0.002;0.001;0.002;0.002	B;B;B;B;B;B;B	0.28553	0.018;0.091;0.005;0.003;0.003;0.003;0.004	T	0.25745	-1.0123	10	0.22109	T	0.4	-34.2481	7.6454	0.28316	0.0:0.8821:0.0:0.1179	rs6069717;rs6069717	11;11;11;11;11;11;11	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	R	11	ENSP00000379245:G11R;ENSP00000379250:G11R;ENSP00000216911:G11R;ENSP00000379251:G11R;ENSP00000321591:G11R;ENSP00000360407:G11R;ENSP00000379249:G11R;ENSP00000379247:G11R;ENSP00000379243:G11R;ENSP00000393452:G11R;ENSP00000388073:G11R;ENSP00000405042:G11R;ENSP00000405170:G11R;ENSP00000401358:G11R	ENSP00000321591:G11R	G	-	1	0	AURKA	54396630	0.751000	0.28327	0.519000	0.27824	0.762000	0.43233	1.167000	0.31847	1.110000	0.41699	0.585000	0.79938	GGA		0.383	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600	
MORC3	23515	broad.mit.edu	37	21	37732374	37732374	+	Splice_Site	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr21:37732374A>G	ENST00000400485.1	+	11	1406	c.1330A>G	c.(1330-1332)Aga>Gga	p.R444G	MORC3_ENST00000487909.1_3'UTR|AP000692.9_ENST00000397184.2_RNA	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	444					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCCACAGTTCAGGTACCATAG	0.433																																						uc002yvi.2																			0				ovary(2)	2						c.(1330-1332)AGA>GGA		MORC family CW-type zinc finger 3							187.0	169.0	175.0					21																	37732374		1936	4162	6098	SO:0001630	splice_region_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37732374A>G	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1331+1A>G	21.37:g.37732374A>G							p.R444G	NM_015358	NP_056173	Q14149	MORC3_HUMAN			11	1406	+			444			CW-type.		A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.1330A>G	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547557	0.65311	.	.	ENSG00000159256	ENST00000400485	T	0.15017	2.46	5.68	5.68	0.88126	Zinc finger, CW-type (2);	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	L	0.49350	1.555	0.80722	D	1	B	0.23650	0.089	B	0.28709	0.093	T	0.02179	-1.1200	10	0.59425	D	0.04	-26.9346	12.6734	0.56880	0.8532:0.1468:0.0:0.0	.	444	Q14149	MORC3_HUMAN	G	444	ENSP00000383333:R444G	ENSP00000383333:R444G	R	+	1	2	MORC3	36654244	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.939000	0.63526	2.158000	0.67659	0.455000	0.32223	AGA		0.433	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	Missense_Mutation
SH3BGR	6450	broad.mit.edu	37	21	40883645	40883645	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr21:40883645C>T	ENST00000333634.4	+	6	741	c.663C>T	c.(661-663)gcC>gcT	p.A221A	SH3BGR_ENST00000458295.1_Silent_p.A79A|SH3BGR_ENST00000380634.1_Silent_p.A110A|SH3BGR_ENST00000380631.1_Silent_p.A110A|SH3BGR_ENST00000380637.3_Silent_p.A110A	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	221	Glu-rich (acidic).				positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AAGGGGAAGCCGAGGAGGAGG	0.448																																						uc002yya.2																			0					0						c.(661-663)GCC>GCT		SH3-binding domain and glutamic acid-rich							119.0	116.0	117.0					21																	40883645		2203	4300	6503	SO:0001819	synonymous_variant	6450				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	g.chr21:40883645C>T		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.663C>T	21.37:g.40883645C>T						SH3BGR_uc002yxz.2_Silent_p.A110A	p.A221A	NM_007341	NP_031367	P55822	SH3BG_HUMAN		STAD - Stomach adenocarcinoma(101;0.00151)	6	717	+		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)	221			Glu-rich (acidic).		A6ND59|D3DSI2|Q9BRB8	Silent	SNP	ENST00000333634.4	37	c.663C>T	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	.	3.056	-0.194313	0.06259	.	.	ENSG00000185437	ENST00000452550	.	.	.	3.7	-7.39	0.01402	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4511	0.04518	0.2203:0.275:0.3774:0.1273	.	.	.	.	X	119	.	.	R	+	1	2	SH3BGR	39805515	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	-1.422000	0.02453	-2.034000	0.00924	-1.157000	0.01802	CGA		0.448	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341	
TPST2	8459	broad.mit.edu	37	22	26937392	26937392	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr22:26937392G>A	ENST00000338754.4	-	3	475	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	TPST2_ENST00000398110.2_Missense_Mutation_p.P69S|TPST2_ENST00000403880.1_Missense_Mutation_p.P69S	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	69					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						AAGATGAGCGGCATGGCCTTG	0.701																																						uc003acv.2																			0				central_nervous_system(1)	1						c.(205-207)CCG>TCG		tyrosylprotein sulfotransferase 2							60.0	46.0	51.0					22																	26937392		2200	4284	6484	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937392G>A	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.205C>T	22.37:g.26937392G>A	ENSP00000339813:p.Pro69Ser					TPST2_uc003acw.2_Missense_Mutation_p.P69S|TPST2_uc003acx.2_Missense_Mutation_p.P69S|TPST2_uc011akf.1_Missense_Mutation_p.P69S	p.P69S	NM_003595	NP_003586	O60704	TPST2_HUMAN			2	373	-			69			Lumenal (Potential).		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.205C>T	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198444	0.79015	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000442495;ENST00000454778	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000002	T	0.75845	0.3905	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82604	-0.0375	10	0.59425	D	0.04	-48.4915	16.5792	0.84710	0.0:0.0:1.0:0.0	.	69	O60704	TPST2_HUMAN	S	69;69;69;2;69;69	ENSP00000339813:P69S;ENSP00000381180:P69S;ENSP00000385192:P69S;ENSP00000403875:P69S;ENSP00000400357:P69S	ENSP00000339813:P69S	P	-	1	0	TPST2	25267392	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	9.084000	0.94076	2.163000	0.67991	0.407000	0.27541	CCG		0.701	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595	
CNTN4	152330	broad.mit.edu	37	3	3076439	3076439	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:3076439C>T	ENST00000397461.1	+	16	2291	c.1907C>T	c.(1906-1908)aCt>aTt	p.T636I	CNTN4_ENST00000448906.2_Missense_Mutation_p.T308I|CNTN4_ENST00000418658.1_Missense_Mutation_p.T636I|CNTN4_ENST00000358480.3_Missense_Mutation_p.T417I|CNTN4_ENST00000397459.2_Missense_Mutation_p.T308I|CNTN4_ENST00000427331.1_Missense_Mutation_p.T636I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	636	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAAGCCAGGACTCCATTCTCC	0.532																																						uc003bpc.2																			0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(1906-1908)ACT>ATT		contactin 4 isoform a precursor							140.0	109.0	120.0					3																	3076439		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3076439C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1907C>T	3.37:g.3076439C>T	ENSP00000380602:p.Thr636Ile					CNTN4_uc003bpb.1_Missense_Mutation_p.T307I|CNTN4_uc003bpd.1_Missense_Mutation_p.T636I|CNTN4_uc003bpe.2_Missense_Mutation_p.T308I|CNTN4_uc003bpf.2_Missense_Mutation_p.T307I	p.T636I	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	16	2128	+		Ovarian(110;0.156)	636			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1907C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585083	0.86748	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	4.27	4.27	0.50696	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73401	0.3582	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.988;0.985;0.997	T	0.78922	-0.2013	10	0.87932	D	0	.	17.0894	0.86618	0.0:1.0:0.0:0.0	.	635;636;636	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	I	636;636;636;417;308;308	ENSP00000396010:T636I;ENSP00000380602:T636I;ENSP00000413642:T636I;ENSP00000351267:T417I;ENSP00000380600:T308I;ENSP00000392077:T308I	ENSP00000351267:T417I	T	+	2	0	CNTN4	3051439	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.600000	0.82769	2.086000	0.62901	0.563000	0.77884	ACT		0.532	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
ITIH4	3700	broad.mit.edu	37	3	52853785	52853785	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:52853785C>T	ENST00000266041.4	-	16	2032	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Intron|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Intron|ITIH4_ENST00000485816.1_Missense_Mutation_p.G651R|ITIH4_ENST00000434759.3_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	646					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTATTCCATCCTCTTCTTGGA	0.547																																						uc003dfz.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1936-1938)GGA>AGA		inter-alpha (globulin) inhibitor H4							151.0	163.0	159.0					3																	52853785		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52853785C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1936G>A	3.37:g.52853785C>T	ENSP00000266041:p.Gly646Arg					ITIH4_uc011bel.1_Intron|ITIH4_uc003dfy.2_Intron|ITIH4_uc011bem.1_Missense_Mutation_p.G651R|ITIH4_uc011ben.1_Intron	p.G646R	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	16	1972	-			646					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1936G>A	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	C	0.176	-1.066620	0.01934	.	.	ENSG00000055955	ENST00000266041;ENST00000485816	T;T	0.01705	4.91;4.68	3.21	-3.83	0.04269	.	2.985060	0.01846	U	0.035626	T	0.01695	0.0054	L	0.29908	0.895	0.09310	N	1	B;P	0.46277	0.003;0.875	B;B	0.39706	0.001;0.307	T	0.42155	-0.9468	10	0.33940	T	0.23	0.0282	5.5574	0.17123	0.0:0.2796:0.1559:0.5645	.	651;646	B7ZKJ8;Q14624	.;ITIH4_HUMAN	R	646;651	ENSP00000266041:G646R;ENSP00000417824:G651R	ENSP00000266041:G646R	G	-	1	0	ITIH4	52828825	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.240000	0.08952	-1.027000	0.03325	-0.379000	0.06801	GGA		0.547	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218	
ROBO1	6091	broad.mit.edu	37	3	78683176	78683176	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:78683176G>A	ENST00000464233.1	-	24	3503	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	ROBO1_ENST00000436010.2_Silent_p.D1091D|ROBO1_ENST00000495273.1_Silent_p.D1085D|ROBO1_ENST00000467549.1_Silent_p.D1030D	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1130					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAGGAACTGTGTCATTTGCTC	0.393																																						uc003dqe.2																			0				large_intestine(2)	2						c.(3388-3390)GAC>GAT		roundabout 1 isoform a							238.0	222.0	227.0					3																	78683176		1902	4128	6030	SO:0001819	synonymous_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78683176G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3390C>T	3.37:g.78683176G>A						ROBO1_uc003dqb.2_Silent_p.D1091D|ROBO1_uc003dqc.2_Silent_p.D1030D|ROBO1_uc003dqd.2_Silent_p.D1085D|ROBO1_uc010hoh.2_Silent_p.D322D|ROBO1_uc011bgl.1_Silent_p.D702D	p.D1130D	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	24	3598	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1130			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.3390C>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	8.278	0.814902	0.16607	.	.	ENSG00000169855	ENST00000472273	.	.	.	5.82	0.378	0.16204	.	.	.	.	.	T	0.59307	0.2184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55082	-0.8196	4	.	.	.	.	11.7021	0.51577	0.4045:0.0:0.5954:0.0	.	.	.	.	I	57	.	.	T	-	2	0	ROBO1	78765866	1.000000	0.71417	0.947000	0.38551	0.877000	0.50540	0.947000	0.29082	0.109000	0.17891	0.655000	0.94253	ACA		0.393	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
ARL6	84100	broad.mit.edu	37	3	97499015	97499015	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:97499015A>T	ENST00000463745.1	+	3	613	c.136A>T	c.(136-138)Aat>Tat	p.N46Y	ARL6_ENST00000394206.1_Missense_Mutation_p.N46Y|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.N46Y	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	46					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TCAATCTCAAAATATCCTTCC	0.308																																						uc003drv.2																			0					0						c.(136-138)AAT>TAT		ADP-ribosylation factor-like 6							69.0	72.0	71.0					3																	97499015		2202	4299	6501	SO:0001583	missense	84100	Bardet-Biedl_syndrome			cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97499015A>T	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.136A>T	3.37:g.97499015A>T	ENSP00000419619:p.Asn46Tyr					ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.N46Y|ARL6_uc010hoy.2_Missense_Mutation_p.N46Y	p.N46Y	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	4	449	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	46					A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.136A>T	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636443	0.47049	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.46	4.55	0.56014	Small GTP-binding protein domain (1);	0.239830	0.48286	D	0.000194	T	0.52273	0.1724	L	0.46157	1.445	0.34524	D	0.708435	P	0.46912	0.886	B	0.36092	0.217	T	0.68981	-0.5266	10	0.72032	D	0.01	.	13.2943	0.60288	0.0772:0.0:0.9228:0.0	.	46	Q9H0F7	ARL6_HUMAN	Y	46	ENSP00000419619:N46Y;ENSP00000418740:N46Y;ENSP00000337722:N46Y;ENSP00000377756:N46Y	ENSP00000337722:N46Y	N	+	1	0	ARL6	98981705	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.275000	0.78548	1.300000	0.44818	-0.301000	0.09380	AAT		0.308	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146	
NPHP3	27031	broad.mit.edu	37	3	132432101	132432101	+	Silent	SNP	G	G	A	rs138124482		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:132432101G>A	ENST00000337331.5	-	6	1073	c.987C>T	c.(985-987)tgC>tgT	p.C329C	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000326682.8_Silent_p.C329C	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	329					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCATTGTCTCGCACATTCTCT	0.289																																						uc003epe.1																			0				ovary(1)	1						c.(985-987)TGC>TGT		nephrocystin 3		G		1,4395	2.1+/-5.4	0,1,2197	44.0	45.0	45.0		987	-1.0	1.0	3	dbSNP_134	45	0,8544		0,0,4272	no	coding-synonymous	NPHP3	NM_153240.4		0,1,6469	AA,AG,GG		0.0,0.0227,0.0077		329/1331	132432101	1,12939	2198	4272	6470	SO:0001819	synonymous_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132432101G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.987C>T	3.37:g.132432101G>A						NPHP3_uc003epf.1_Silent_p.C84C	p.C329C	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			6	1064	-			329					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	c.987C>T	CCDS3078.1																																																																																				0.289	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	
KIAA0226	9711	broad.mit.edu	37	3	197431552	197431552	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:197431552G>A	ENST00000296343.5	-	4	323	c.324C>T	c.(322-324)aaC>aaT	p.N108N	KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000273582.5_Silent_p.N48N|KIAA0226_ENST00000389665.5_Silent_p.N108N|KIAA0226_ENST00000449205.1_Silent_p.N108N	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	108	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCTCTGGTCGTTCTCGTGCA	0.567																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2																			0					0						c.(322-324)AAC>AAT		hypothetical protein LOC9711 isoform 2.							51.0	52.0	52.0					3																	197431552		2119	4253	6372	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197431552G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.324C>T	3.37:g.197431552G>A						KIAA0226_uc003fyd.3_Silent_p.N48N|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.2_Translation_Start_Site|KIAA0226_uc003fyg.2_Silent_p.N101N	p.N108N	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	4	507	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		108			RUN.		Q96CK5	Silent	SNP	ENST00000296343.5	37	c.324C>T	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	1.245	-0.620230	0.03636	.	.	ENSG00000145016	ENST00000413360	.	.	.	5.84	-4.94	0.03057	.	.	.	.	.	.	.	.	.	.	.	0.24954	N	0.991776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6461	0.56735	0.3055:0.0:0.5955:0.0989	.	.	.	.	X	87	.	.	R	-	1	2	KIAA0226	198915949	0.000000	0.05858	0.009000	0.14445	0.261000	0.26267	-2.256000	0.01181	-1.145000	0.02858	-0.323000	0.08544	CGA		0.567	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	
TACC3	10460	broad.mit.edu	37	4	1729779	1729779	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:1729779C>T	ENST00000313288.4	+	4	756	c.650C>T	c.(649-651)cCg>cTg	p.P217L		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	217					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCGGAGACTCCGCACGGAGCC	0.597																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2																			0				ovary(1)|central_nervous_system(1)	2						c.(649-651)CCG>CTG		transforming, acidic coiled-coil containing							25.0	29.0	28.0					4																	1729779		2203	4298	6501	SO:0001583	missense	10460					centrosome		g.chr4:1729779C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.650C>T	4.37:g.1729779C>T	ENSP00000326550:p.Pro217Leu					TACC3_uc010ibz.2_Missense_Mutation_p.P217L|TACC3_uc003gdp.2_Intron	p.P217L	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	758	+		Breast(71;0.212)|all_epithelial(65;0.241)	217					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.650C>T	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117457	0.37339	.	.	ENSG00000013810	ENST00000313288;ENST00000493975;ENST00000458173	T;T;T	0.61742	1.93;0.08;0.15	4.45	3.61	0.41365	.	0.517714	0.15246	N	0.272585	T	0.45357	0.1338	L	0.37561	1.115	0.19775	N	0.999951	B;B	0.31100	0.308;0.205	B;B	0.26202	0.067;0.021	T	0.37888	-0.9686	10	0.54805	T	0.06	.	10.3063	0.43683	0.0:0.9065:0.0:0.0935	.	217;217	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	L	217	ENSP00000326550:P217L;ENSP00000418095:P217L;ENSP00000415914:P217L	ENSP00000326550:P217L	P	+	2	0	TACC3	1699577	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.191000	0.17076	0.999000	0.39023	-0.244000	0.11960	CCG		0.597	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2		
SLIT2	9353	broad.mit.edu	37	4	20597371	20597371	+	Silent	SNP	C	C	T	rs573018203		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:20597371C>T	ENST00000504154.1	+	31	3486	c.3234C>T	c.(3232-3234)gaC>gaT	p.D1078D	SLIT2_ENST00000503837.1_Silent_p.D1074D|SLIT2_ENST00000273739.5_Silent_p.D1091D|SLIT2_ENST00000503823.1_Silent_p.D1070D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1078	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.D1078D(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGATTTTGACGACTGCCAAG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17933	0.0		0.0	False		,,,				2504	0.0					uc003gpr.1																			1	Substitution - coding silent(1)	p.D1078D(1)	central_nervous_system(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(3232-3234)GAC>GAT		slit homolog 2 precursor							211.0	195.0	200.0					4																	20597371		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20597371C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3234C>T	4.37:g.20597371C>T						SLIT2_uc003gps.1_Silent_p.D1070D	p.D1078D	NM_004787	NP_004778	O94813	SLIT2_HUMAN			31	3438	+			1078			EGF-like 5; calcium-binding (Potential).		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3234C>T	CCDS3426.1																																																																																				0.468	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
PALLD	23022	broad.mit.edu	37	4	169845564	169845564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:169845564C>T	ENST00000505667.1	+	19	3390	c.3217C>T	c.(3217-3219)Cga>Tga	p.R1073*	PALLD_ENST00000512127.1_Nonsense_Mutation_p.R674*|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Nonsense_Mutation_p.R569*|PALLD_ENST00000261509.6_Nonsense_Mutation_p.R1056*|PALLD_ENST00000335742.7_Nonsense_Mutation_p.R898*			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1280	Ig-like C2-type 3.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCACTGACCGAGTGAGGTA	0.418									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1																			0				ovary(1)	1						c.(3217-3219)CGA>TGA		palladin isoform 2							89.0	83.0	85.0					4																	169845564		2203	4300	6503	SO:0001587	stop_gained	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169845564C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.3217C>T	4.37:g.169845564C>T	ENSP00000425556:p.Arg1073*					CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Nonsense_Mutation_p.R1056*|PALLD_uc003irv.2_Nonsense_Mutation_p.R674*|PALLD_uc003irw.2_Nonsense_Mutation_p.R558*|PALLD_uc003irx.2_Nonsense_Mutation_p.R282*	p.R1073*	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	19	3428	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1280			Ig-like C2-type 5.|Interaction with EZR.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Nonsense_Mutation	SNP	ENST00000505667.1	37	c.3217C>T	CCDS54818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.215077|8.215077	0.98709|0.98709	.|.	.|.	ENSG00000129116|ENSG00000129116	ENST00000503290|ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	.|.	.|.	.|.	5.44|5.44	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.27856	.|U	.|0.017580	T|.	0.40645|.	0.1125|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26395|.	-1.0104|.	4|.	.|0.02654	.|T	.|1	.|.	13.8088|13.8088	0.63250|0.63250	0.4404:0.5596:0.0:0.0|0.4404:0.5596:0.0:0.0	.|.	.|.	.|.	.|.	L|X	109|1056;898;1073;674;569	.|.	.|ENSP00000261509:R1056X	P|R	+|+	2|1	0|2	PALLD|PALLD	170082139|170082139	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.863000|0.863000	0.49368|0.49368	1.425000|1.425000	0.34859|0.34859	1.256000|1.256000	0.44068|0.44068	0.585000|0.585000	0.79938|0.79938	CCG|CGA		0.418	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	
EDIL3	10085	broad.mit.edu	37	5	83402578	83402578	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:83402578G>T	ENST00000296591.5	-	6	958	c.540C>A	c.(538-540)caC>caA	p.H180Q	EDIL3_ENST00000380138.3_Missense_Mutation_p.H170Q	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	180	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.H180H(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AAAGAGCTCGGTGAGTAGAGG	0.418																																						uc003kio.1																			1	Substitution - coding silent(1)		endometrium(1)	skin(2)	2						c.(538-540)CAC>CAA		EGF-like repeats and discoidin I-like							189.0	199.0	196.0					5																	83402578		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83402578G>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.540C>A	5.37:g.83402578G>T	ENSP00000296591:p.His180Gln					EDIL3_uc003kip.1_Missense_Mutation_p.H170Q	p.H180Q	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	6	959	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	180			F5/8 type C 1.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.540C>A	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743798	0.69418	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98060	-4.69;-4.69	5.76	2.99	0.34606	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.142496	0.64402	D	0.000005	D	0.97455	0.9167	L	0.45285	1.41	0.54753	D	0.999985	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.958	D	0.96903	0.9661	10	0.72032	D	0.01	-24.5289	10.2356	0.43282	0.3227:0.0:0.6773:0.0	.	170;180	O43854-2;O43854	.;EDIL3_HUMAN	Q	180;170	ENSP00000296591:H180Q;ENSP00000369483:H170Q	ENSP00000296591:H180Q	H	-	3	2	EDIL3	83438334	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	1.860000	0.39428	0.782000	0.33613	-0.143000	0.13931	CAC		0.418	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711	
WDR36	134430	broad.mit.edu	37	5	110461398	110461398	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:110461398G>C	ENST00000513710.2	+	22	2615	c.2611G>C	c.(2611-2613)Gaa>Caa	p.E871Q	WDR36_ENST00000506538.2_Missense_Mutation_p.E871Q			Q8NI36	WDR36_HUMAN	WD repeat domain 36	871					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGGGTCCATAGAAGTTATGCA	0.443																																						uc003kpd.2																			0				ovary(1)|skin(1)	2						c.(2611-2613)GAA>CAA		WD repeat domain 36							138.0	133.0	135.0					5																	110461398		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110461398G>C	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2611G>C	5.37:g.110461398G>C	ENSP00000424628:p.Glu871Gln					WDR36_uc010jbu.2_RNA	p.E871Q	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	22	2728	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	871					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.2611G>C	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	3.982	-0.006251	0.07773	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.77620	-1.11;-1.11	5.06	4.17	0.49024	Small-subunit processome, Utp21 (1);	0.334449	0.36409	N	0.002612	T	0.74574	0.3734	L	0.56769	1.78	0.45076	D	0.998094	B	0.13594	0.008	B	0.17722	0.019	T	0.75065	-0.3449	10	0.87932	D	0	-7.4579	14.382	0.66916	0.0754:0.0:0.9246:0.0	.	871	Q8NI36	WDR36_HUMAN	Q	871	ENSP00000423067:E871Q;ENSP00000424628:E871Q	ENSP00000423067:E871Q	E	+	1	0	WDR36	110489297	0.968000	0.33430	0.103000	0.21229	0.391000	0.30476	2.382000	0.44345	2.505000	0.84491	0.585000	0.79938	GAA		0.443	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	
GABRA1	2554	broad.mit.edu	37	5	161300157	161300157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:161300157G>A	ENST00000428797.2	+	6	645	c.290G>A	c.(289-291)tGg>tAg	p.W97*	GABRA1_ENST00000393943.4_Nonsense_Mutation_p.W97*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.W97*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.W97*|GABRA1_ENST00000420560.1_Nonsense_Mutation_p.W97*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.W97*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	97					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CGTCAAAGCTGGAAGGATGAA	0.363																																						uc010jiw.2																			0				ovary(2)|pancreas(1)	3						c.(289-291)TGG>TAG		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						95.0	101.0	99.0					5																	161300157		2203	4300	6503	SO:0001587	stop_gained	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161300157G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.290G>A	5.37:g.161300157G>A	ENSP00000393097:p.Trp97*					GABRA1_uc010jix.2_Nonsense_Mutation_p.W97*|GABRA1_uc010jiy.2_Nonsense_Mutation_p.W97*|GABRA1_uc003lyx.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jiz.2_Nonsense_Mutation_p.W97*|GABRA1_uc010jja.2_Nonsense_Mutation_p.W97*|GABRA1_uc010jjb.2_Nonsense_Mutation_p.W97*	p.W97*	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	6	758	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	97			Extracellular (Probable).		D3DQK6|Q8N629	Nonsense_Mutation	SNP	ENST00000428797.2	37	c.290G>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	39	7.808583	0.98501	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819;ENST00000519621	.	.	.	5.75	5.75	0.90469	.	0.120261	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	97	.	ENSP00000023897:W97X	W	+	2	0	GABRA1	161232735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.717000	0.92951	0.585000	0.79938	TGG		0.363	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
N4BP3	23138	broad.mit.edu	37	5	177547670	177547670	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:177547670C>T	ENST00000274605.5	+	3	1181	c.822C>T	c.(820-822)ggC>ggT	p.G274G		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	274						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGCCTTGGCGATGAGGACG	0.662																																						uc003mik.1																			0					0						c.(820-822)GGC>GGT		Nedd4 binding protein 3							22.0	22.0	22.0					5																	177547670		2202	4300	6502	SO:0001819	synonymous_variant	23138					cytoplasmic vesicle membrane		g.chr5:177547670C>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.822C>T	5.37:g.177547670C>T						N4BP3_uc003mil.1_5'Flank	p.G274G	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	1069	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	274					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Silent	SNP	ENST00000274605.5	37	c.822C>T	CCDS34307.1																																																																																				0.662	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111	
BTN2A2	10385	broad.mit.edu	37	6	26385257	26385257	+	Missense_Mutation	SNP	G	G	A	rs143653188	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:26385257G>A	ENST00000356709.4	+	3	220	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	BTN2A2_ENST00000416795.2_Missense_Mutation_p.V37M|BTN2A2_ENST00000432533.2_Missense_Mutation_p.V37M|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.V37M	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	37	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GTTTACTGTCGTGGGGCCAGC	0.463													G|||	6	0.00119808	0.0045	0.0	5008	,	,		20858	0.0		0.0	False		,,,				2504	0.0					uc003nhq.2																			0					0						c.(109-111)GTG>ATG		butyrophilin, subfamily 2, member A2 isoform a		G	MET/VAL,MET/VAL,,MET/VAL,MET/VAL,	14,4392	21.2+/-45.6	0,14,2189	83.0	67.0	72.0		109,109,,109,109,	-2.1	0.7	6	dbSNP_134	72	0,8600		0,0,4300	yes	missense,missense,intron,missense,missense,intron	BTN2A2	NM_001197237.1,NM_001197238.1,NM_001197239.1,NM_001197240.1,NM_006995.4,NM_181531.2	21,21,,21,21,	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	possibly-damaging,possibly-damaging,,possibly-damaging,possibly-damaging,	37/524,37/337,,37/257,37/524,	26385257	14,12992	2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26385257G>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.109G>A	6.37:g.26385257G>A	ENSP00000349143:p.Val37Met					BTN2A2_uc011dkf.1_Intron|BTN2A2_uc011dkg.1_Missense_Mutation_p.V37M|BTN2A2_uc003nhr.2_Intron|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.V37M|BTN2A2_uc003nht.2_Missense_Mutation_p.V37M	p.V37M	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			3	195	+			37			Extracellular (Potential).|Ig-like V-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.109G>A	CCDS4606.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	10.12	1.263258	0.23051	0.003177	0.0	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795;ENST00000494184	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;4.08	3.63	-2.06	0.07298	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.544560	0.03948	N	0.287997	T	0.33411	0.0862	M	0.65498	2.005	0.21697	N	0.999589	P;P;P	0.43169	0.695;0.8;0.794	B;B;B	0.38985	0.099;0.287;0.219	T	0.17961	-1.0352	10	0.49607	T	0.09	.	0.5576	0.00673	0.352:0.1852:0.2917:0.1712	.	37;37;37	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	M	37	ENSP00000417472:V37M;ENSP00000349143:V37M;ENSP00000418857:V37M;ENSP00000394241:V37M;ENSP00000399308:V37M;ENSP00000417511:V37M	ENSP00000349143:V37M	V	+	1	0	BTN2A2	26493236	0.000000	0.05858	0.694000	0.30210	0.308000	0.27856	-2.229000	0.01208	-0.680000	0.05211	0.298000	0.19748	GTG		0.463	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1		
CUL9	23113	broad.mit.edu	37	6	43160945	43160945	+	Splice_Site	SNP	C	C	T	rs199659549		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:43160945C>T	ENST00000252050.4	+	9	2471	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V	CUL9_ENST00000354495.3_Splice_Site_p.A686V|CUL9_ENST00000372647.2_Splice_Site_p.A796V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	796					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTGGGCTGGCGGTGAGTACA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18630	0.0		0.001	False		,,,				2504	0.0					uc003ouk.2																			0		p.A796T(1)		ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(2386-2388)GCG>GTG		p53-associated parkin-like cytoplasmic protein		C	VAL/ALA	0,4404		0,0,2202	82.0	82.0	82.0		2387	5.1	1.0	6		82	1,8595		0,1,4297	yes	missense-near-splice	CUL9	NM_015089.2	64	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	796/2518	43160945	1,12999	2202	4298	6500	SO:0001630	splice_region_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43160945C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2388+1C>T	6.37:g.43160945C>T						CUL9_uc003oul.2_Missense_Mutation_p.A796V|CUL9_uc010jyk.2_5'UTR	p.A796V	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			9	2462	+			796					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2387C>T	CCDS4890.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.6	4.545253	0.86022	0.0	1.16E-4	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.37235	1.21;1.21;1.21	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.257437	0.35970	N	0.002871	T	0.38692	0.1050	L	0.27053	0.805	0.47276	D	0.999377	D;D	0.89917	1.0;1.0	D;D	0.64506	0.926;0.926	T	0.42378	-0.9455	10	0.87932	D	0	-20.0966	18.5273	0.90976	0.0:1.0:0.0:0.0	.	796;796	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	V	796;686;796	ENSP00000252050:A796V;ENSP00000346490:A686V;ENSP00000361730:A796V	ENSP00000252050:A796V	A	+	2	0	CUL9	43268923	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.624000	0.67764	2.373000	0.80994	0.297000	0.19635	GCG		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	Missense_Mutation
BCKDHB	594	broad.mit.edu	37	6	80838915	80838915	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:80838915T>C	ENST00000320393.6	+	3	359	c.312T>C	c.(310-312)ttT>ttC	p.F104F	BCKDHB_ENST00000356489.5_Silent_p.F104F|BCKDHB_ENST00000369760.4_Silent_p.F104F|BCKDHB_ENST00000486968.1_3'UTR|BCKDHB_ENST00000545529.1_Silent_p.F104F	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	104					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GTGGAGTCTTTAGATGCACTG	0.264																																						uc003pjd.2																			0					0						c.(310-312)TTT>TTC		branched chain keto acid dehydrogenase E1 beta							123.0	129.0	127.0					6																	80838915		2203	4300	6503	SO:0001819	synonymous_variant	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80838915T>C	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.312T>C	6.37:g.80838915T>C						BCKDHB_uc003pje.2_Silent_p.F104F	p.F104F	NM_000056	NP_000047	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	3	379	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	104					Q5T2J3|Q9BQL0	Silent	SNP	ENST00000320393.6	37	c.312T>C	CCDS4994.1																																																																																				0.264	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056	
AHI1	54806	broad.mit.edu	37	6	135748441	135748441	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:135748441T>C	ENST00000367800.4	-	18	2844	c.2628A>G	c.(2626-2628)gaA>gaG	p.E876E	AHI1_ENST00000327035.6_Silent_p.E876E|AHI1_ENST00000417892.2_Silent_p.E230E|AHI1_ENST00000457866.2_Silent_p.E876E	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	876					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGGCTACTTGTTCTCCTAAAT	0.323																																						uc003qgi.2																			0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2626-2628)GAA>GAG		Abelson helper integration site 1 isoform a							58.0	55.0	56.0					6																	135748441		1825	4075	5900	SO:0001819	synonymous_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135748441T>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2628A>G	6.37:g.135748441T>C						AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Silent_p.E326E|AHI1_uc003qgh.2_Silent_p.E876E|AHI1_uc003qgj.2_Silent_p.E876E|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Silent_p.E876E	p.E876E	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	20	3012	-	Breast(56;0.239)|Colorectal(23;0.24)		876			WD 6.		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	c.2628A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	8.924	0.961897	0.18583	.	.	ENSG00000135541	ENST00000367799	.	.	.	4.87	-1.44	0.08856	.	.	.	.	.	T	0.21718	0.0523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33343	-0.9872	4	.	.	.	-18.7022	0.347	0.00343	0.3988:0.1782:0.1656:0.2574	.	.	.	.	S	376	.	.	N	-	2	0	AHI1	135790134	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	0.868000	0.27982	-0.017000	0.14103	-0.361000	0.07541	AAC		0.323	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
RPS6KA2	6196	broad.mit.edu	37	6	166912027	166912027	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:166912027C>T	ENST00000265678.4	-	8	939	c.716G>A	c.(715-717)aGt>aAt	p.S239N	RPS6KA2_ENST00000366863.2_Missense_Mutation_p.S85N|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.S264N|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.S150N|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.S247N|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.S150N	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	239	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCAGTCGGCACTCTGCGTGTG	0.637																																						uc003qvb.1																			0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(715-717)AGT>AAT		ribosomal protein S6 kinase, 90kDa, polypeptide							141.0	93.0	109.0					6																	166912027		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166912027C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.716G>A	6.37:g.166912027C>T	ENSP00000265678:p.Ser239Asn					RPS6KA2_uc011ego.1_Missense_Mutation_p.S150N|RPS6KA2_uc010kkl.1_Missense_Mutation_p.S150N|RPS6KA2_uc003qvc.1_Missense_Mutation_p.S247N|RPS6KA2_uc003qvd.1_Missense_Mutation_p.S264N	p.S239N	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	8	935	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	239			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.716G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766595	0.90020	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000366863	T;T;T;T;T;T	0.66099	1.78;1.78;1.78;1.78;1.78;-0.19	4.75	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.62266	1.93	0.51233	D	0.999915	P;P;D	0.55172	0.934;0.835;0.97	P;P;P	0.54706	0.759;0.547;0.711	T	0.71646	-0.4530	10	0.87932	D	0	.	17.1162	0.86689	0.0:1.0:0.0:0.0	.	264;247;239	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	N	239;264;247;150;150;85	ENSP00000265678:S239N;ENSP00000422435:S264N;ENSP00000427015:S247N;ENSP00000422484:S150N;ENSP00000386050:S150N;ENSP00000355828:S85N	ENSP00000265678:S239N	S	-	2	0	RPS6KA2	166832017	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	5.409000	0.66374	2.333000	0.79357	0.561000	0.74099	AGT		0.637	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
IKZF1	10320	broad.mit.edu	37	7	50358674	50358674	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:50358674G>T	ENST00000331340.3	+	2	172	c.17G>T	c.(16-18)gGt>gTt	p.G6V	IKZF1_ENST00000439701.1_Missense_Mutation_p.G6V|IKZF1_ENST00000413698.1_Missense_Mutation_p.G6V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G6V|IKZF1_ENST00000440768.2_Missense_Mutation_p.G6V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G6V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G6V|IKZF1_ENST00000492782.1_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.G6V|IKZF1_ENST00000346667.4_Missense_Mutation_p.G6V|IKZF1_ENST00000438033.1_Missense_Mutation_p.G6V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	6					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(41)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCTGATGAGGGTCAAGACATG	0.433			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3				"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		41	Unknown(41)	p.?(24)	haematopoietic_and_lymphoid_tissue(41)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(16-18)GGT>GTT		zinc finger protein, subfamily 1A, 1 (Ikaros)							230.0	206.0	213.0					7																	50358674		1568	3582	5150	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50358674G>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.17G>T	7.37:g.50358674G>T	ENSP00000331614:p.Gly6Val					IKZF1_uc003tox.3_Missense_Mutation_p.G6V|IKZF1_uc003toy.3_Missense_Mutation_p.G6V|IKZF1_uc011kck.1_Missense_Mutation_p.G6V|IKZF1_uc003tov.1_Missense_Mutation_p.G6V	p.G6V	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			3	185	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	6					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.17G>T		.	.	.	.	.	.	.	.	.	.	G	15.08	2.728131	0.48833	.	.	ENSG00000185811	ENST00000413698;ENST00000346667;ENST00000343574;ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T;T	0.05996	4.71;3.36;3.47;3.36;4.46;3.55;3.46;3.36;3.47	5.86	4.96	0.65561	.	0.153604	0.64402	D	0.000020	T	0.16471	0.0396	.	.	.	0.54753	D	0.999986	B;B;B;D	0.56746	0.161;0.348;0.1;0.977	B;B;B;P	0.55923	0.079;0.108;0.024;0.787	T	0.00032	-1.2274	9	0.52906	T	0.07	-0.1407	13.238	0.59982	0.0:0.38:0.62:0.0	.	6;6;6;6	Q13422-2;Q13422-7;Q13422;C9JTB0	.;.;IKZF1_HUMAN;.	V	6	ENSP00000340080:G6V;ENSP00000342750:G6V;ENSP00000352123:G6V;ENSP00000401507:G6V;ENSP00000342485:G6V;ENSP00000349928:G6V;ENSP00000331614:G6V;ENSP00000396554:G6V;ENSP00000413025:G6V	ENSP00000331614:G6V	G	+	2	0	IKZF1	50329219	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.629000	0.67798	2.766000	0.95052	0.655000	0.94253	GGT		0.433	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060	
SEPT14	346288	broad.mit.edu	37	7	55912359	55912359	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:55912359G>A	ENST00000388975.3	-	4	344	c.228C>T	c.(226-228)aaC>aaT	p.N76N	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	76	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATCTTTCAAGTTAGTATTAA	0.353																																						uc003tqz.2																			0					0						c.(226-228)AAC>AAT		septin 14							92.0	88.0	89.0					7																	55912359		1853	4074	5927	SO:0001819	synonymous_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55912359G>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.228C>T	7.37:g.55912359G>A							p.N76N	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	345	-	Breast(14;0.214)		76					A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	c.228C>T	CCDS5519.2																																																																																				0.353	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	
EIF4H	7458	broad.mit.edu	37	7	73609098	73609098	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:73609098G>A	ENST00000265753.8	+	6	636	c.497G>A	c.(496-498)aGg>aAg	p.R166K	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Missense_Mutation_p.R146K	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	166					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						TTAGGGGGCAGGGGAGGTAGT	0.542																																						uc003uad.1																			0					0						c.(496-498)AGG>AAG		eukaryotic translation initiation factor 4H							74.0	87.0	83.0					7																	73609098		2203	4300	6503	SO:0001583	missense	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73609098G>A		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.497G>A	7.37:g.73609098G>A	ENSP00000265753:p.Arg166Lys					RFC2_uc011kfa.1_Intron|EIF4H_uc010lbm.2_Intron|EIF4H_uc003uae.1_Missense_Mutation_p.R146K|EIF4H_uc003uaf.1_RNA	p.R166K	NM_022170	NP_071496	Q15056	IF4H_HUMAN			6	505	+			166					A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	37	c.497G>A	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160913	0.78226	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.75154	1.21;-0.91	4.61	4.61	0.57282	.	0.159401	0.52532	D	0.000077	T	0.70718	0.3256	M	0.64997	1.995	0.52099	D	0.999949	B;P	0.48764	0.004;0.915	B;B	0.40825	0.02;0.341	T	0.73297	-0.4027	10	0.38643	T	0.18	-8.5201	14.3085	0.66400	0.0:0.0:1.0:0.0	.	146;166	Q15056-2;Q15056	.;IF4H_HUMAN	K	166;146	ENSP00000265753:R166K;ENSP00000265754:R146K	ENSP00000265753:R166K	R	+	2	0	EIF4H	73247034	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	4.949000	0.63596	2.397000	0.81536	0.563000	0.77884	AGG		0.542	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170	
MUC17	140453	broad.mit.edu	37	7	100683326	100683326	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:100683326A>G	ENST00000306151.4	+	3	8693	c.8629A>G	c.(8629-8631)Agc>Ggc	p.S2877G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2877	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TATACCTGTCAGCACCACGCC	0.478																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8629-8631)AGC>GGC		mucin 17 precursor							255.0	267.0	263.0					7																	100683326		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683326A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8629A>G	7.37:g.100683326A>G	ENSP00000302716:p.Ser2877Gly					MUC17_uc010lho.1_RNA	p.S2877G	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8682	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2877			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|46.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8629A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.455	-0.563850	0.03939	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	0.478	0.478	0.16789	.	.	.	.	.	T	0.01523	0.0049	N	0.19112	0.55	0.09310	N	1	P	0.42584	0.784	B	0.28638	0.092	T	0.51084	-0.8750	8	0.28530	T	0.3	.	.	.	.	.	2877	Q685J3	MUC17_HUMAN	G	2877	ENSP00000302716:S2877G	ENSP00000302716:S2877G	S	+	1	0	MUC17	100470046	0.033000	0.19621	0.010000	0.14722	0.014000	0.08584	1.542000	0.36137	0.469000	0.27268	0.113000	0.15668	AGC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
RELN	5649	broad.mit.edu	37	7	103338368	103338368	+	Missense_Mutation	SNP	C	C	T	rs114926265	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:103338368C>T	ENST00000428762.1	-	10	1234	c.1075G>A	c.(1075-1077)Gtt>Att	p.V359I	RELN_ENST00000424685.2_Missense_Mutation_p.V359I|RELN_ENST00000343529.5_Missense_Mutation_p.V359I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	359					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTTCTAAAACGACTTGTCTG	0.428													C|||	21	0.00419329	0.0159	0.0	5008	,	,		18227	0.0		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1075-1077)GTT>ATT		reelin isoform a		C	ILE/VAL,ILE/VAL	79,4327	68.7+/-106.4	3,73,2127	165.0	151.0	156.0		1075,1075	-6.2	0.4	7	dbSNP_132	156	0,8600		0,0,4300	yes	missense,missense	RELN	NM_005045.3,NM_173054.2	29,29	3,73,6427	TT,TC,CC		0.0,1.793,0.6074	benign,benign	359/3461,359/3459	103338368	79,12927	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103338368C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1075G>A	7.37:g.103338368C>T	ENSP00000392423:p.Val359Ile					RELN_uc010liz.2_Missense_Mutation_p.V359I	p.V359I	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	10	1235	-			359					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1075G>A	CCDS47680.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	c	4.144	0.024996	0.08054	0.01793	0.0	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23147	1.92;1.92;1.92	6.05	-6.21	0.02065	.	0.768215	0.12678	N	0.448216	T	0.08088	0.0202	L	0.27053	0.805	0.22253	N	0.999251	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19031	-1.0318	10	0.15499	T	0.54	.	19.789	0.96450	0.0:0.7707:0.0:0.2293	.	359;359	P78509-2;P78509	.;RELN_HUMAN	I	359	ENSP00000392423:V359I;ENSP00000345694:V359I;ENSP00000388446:V359I	ENSP00000345694:V359I	V	-	1	0	RELN	103125604	0.831000	0.29352	0.372000	0.25991	0.355000	0.29361	0.115000	0.15540	-1.075000	0.03129	-0.985000	0.02557	GTT		0.428	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
SLC26A3	1811	broad.mit.edu	37	7	107415299	107415299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:107415299G>A	ENST00000340010.5	-	16	1880	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.R531*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	566	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CGTAGAATTCGAAGTGGACTA	0.398																																						uc003ver.2																			0				ovary(3)|skin(1)	4						c.(1696-1698)CGA>TGA		solute carrier family 26, member 3							136.0	121.0	126.0					7																	107415299		2203	4300	6503	SO:0001587	stop_gained	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107415299G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1696C>T	7.37:g.107415299G>A	ENSP00000345873:p.Arg566*					SLC26A3_uc003ves.2_Nonsense_Mutation_p.R531*	p.R566*	NM_000111	NP_000102	P40879	S26A3_HUMAN			16	1907	-			566			STAS.			Nonsense_Mutation	SNP	ENST00000340010.5	37	c.1696C>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	40	8.398872	0.98794	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	.	.	.	6.11	4.1	0.47936	.	0.147172	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0514	0.64739	0.0:0.0:0.5864:0.4136	.	.	.	.	X	531;566	.	ENSP00000345873:R566X	R	-	1	2	SLC26A3	107202535	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.490000	0.45294	1.545000	0.49373	0.655000	0.94253	CGA		0.398	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	
PPP1R3A	5506	broad.mit.edu	37	7	113558926	113558926	+	Missense_Mutation	SNP	A	A	C	rs372659556		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:113558926A>C	ENST00000284601.3	-	1	194	c.126T>G	c.(124-126)agT>agG	p.S42R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	42					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACCTCGTCTACTTGGTTGAG	0.373																																						uc010ljy.1																			0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(124-126)AGT>AGG		protein phosphatase 1, regulatory (inhibitor)							82.0	82.0	82.0					7																	113558926		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558926A>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.126T>G	7.37:g.113558926A>C	ENSP00000284601:p.Ser42Arg						p.S42R	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			1	157	-			42					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.126T>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	0.102	-1.150170	0.01700	.	.	ENSG00000154415	ENST00000284601	T	0.14640	2.49	6.17	-9.13	0.00704	.	0.113637	0.64402	D	0.000011	T	0.04003	0.0112	N	0.16478	0.41	0.22552	N	0.998992	B	0.06786	0.001	B	0.08055	0.003	T	0.42015	-0.9476	10	0.02654	T	1	-0.0861	8.144	0.31100	0.1007:0.2543:0.519:0.1261	.	42	Q16821	PPR3A_HUMAN	R	42	ENSP00000284601:S42R	ENSP00000284601:S42R	S	-	3	2	PPP1R3A	113346162	0.003000	0.15002	0.266000	0.24541	0.857000	0.48899	-1.349000	0.02627	-1.083000	0.03097	-0.256000	0.11100	AGT		0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
IMPDH1	3614	broad.mit.edu	37	7	128034510	128034510	+	Splice_Site	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:128034510C>T	ENST00000480861.1	-	12	1501	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	IMPDH1_ENST00000378717.4_Splice_Site_p.R496Q|IMPDH1_ENST00000496200.1_Splice_Site_p.R455Q|IMPDH1_ENST00000419067.2_Splice_Site_p.R532Q|IMPDH1_ENST00000470772.1_Splice_Site_p.R479Q|IMPDH1_ENST00000348127.6_Splice_Site_p.R529Q|IMPDH1_ENST00000343214.4_Splice_Site_p.R455Q|IMPDH1_ENST00000354269.5_Splice_Site_p.R555Q|IMPDH1_ENST00000338791.6_Splice_Site_p.R565Q	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CAGCACTCACCGAAGGACAGA	0.582																																						uc011kol.1																			0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(1438-1440)CGG>CAG		inosine monophosphate dehydrogenase 1 isoform e	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						73.0	73.0	73.0					7																	128034510		2203	4300	6503	SO:0001630	splice_region_variant	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128034510C>T		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1424+1G>A	7.37:g.128034510C>T						IMPDH1_uc011kom.1_Missense_Mutation_p.R475Q|IMPDH1_uc003vmt.2_Missense_Mutation_p.R455Q|IMPDH1_uc003vmu.2_Missense_Mutation_p.R565Q|IMPDH1_uc003vmw.2_Missense_Mutation_p.R555Q|IMPDH1_uc011kon.1_Missense_Mutation_p.R532Q|IMPDH1_uc003vmv.2_Missense_Mutation_p.R529Q|IMPDH1_uc003vmx.2_Missense_Mutation_p.R488Q|IMPDH1_uc003vmy.2_Missense_Mutation_p.R496Q|uc011koo.1_5'Flank	p.R480Q	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			12	1545	-			480						Missense_Mutation	SNP	ENST00000480861.1	37	c.1439G>A	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511037	0.85389	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.18	5.18	0.71444	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	N	0.25380	0.74	0.58432	D	0.999999	D;D;D;D;D;P;P;D	0.89917	1.0;0.989;0.995;0.998;0.999;0.785;0.95;0.987	D;P;P;P;D;B;B;P	0.66602	0.945;0.792;0.792;0.862;0.927;0.077;0.176;0.688	T	0.75422	-0.3323	9	.	.	.	-13.8771	9.7576	0.40513	0.0:0.9063:0.0:0.0937	.	532;475;480;496;555;529;565;455	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	Q	532;565;455;555;496;529;455;479;475	ENSP00000399400:R532Q;ENSP00000345096:R565Q;ENSP00000420803:R455Q;ENSP00000346219:R555Q;ENSP00000367989:R496Q;ENSP00000265385:R529Q;ENSP00000342438:R455Q;ENSP00000417296:R479Q;ENSP00000420185:R475Q	.	R	-	2	0	IMPDH1	127821746	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.370000	0.44240	2.409000	0.81822	0.561000	0.74099	CGG		0.582	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883	Missense_Mutation
KCNB2	9312	broad.mit.edu	37	8	73849104	73849104	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:73849104A>T	ENST00000523207.1	+	3	2102	c.1514A>T	c.(1513-1515)aAc>aTc	p.N505I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	505					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACAAGCTCCAACAAGTCTTTC	0.562																																						uc003xzb.2																			0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1513-1515)AAC>ATC		potassium voltage-gated channel, Shab-related							111.0	118.0	116.0					8																	73849104		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849104A>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1514A>T	8.37:g.73849104A>T	ENSP00000430846:p.Asn505Ile						p.N505I	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2102	+	Breast(64;0.137)		505			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1514A>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000252	0.54147	.	.	ENSG00000182674	ENST00000523207	T	0.28666	1.6	5.47	4.24	0.50183	.	1.094740	0.07032	N	0.828710	T	0.49677	0.1571	L	0.54323	1.7	0.40259	D	0.978152	D	0.59767	0.986	P	0.61800	0.894	T	0.25047	-1.0143	10	0.52906	T	0.07	.	12.1567	0.54081	0.8572:0.1428:0.0:0.0	.	505	Q92953	KCNB2_HUMAN	I	505	ENSP00000430846:N505I	ENSP00000430846:N505I	N	+	2	0	KCNB2	74011658	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.023000	0.57211	2.064000	0.61679	0.533000	0.62120	AAC		0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
CSMD3	114788	broad.mit.edu	37	8	113256734	113256734	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:113256734C>G	ENST00000297405.5	-	65	10535	c.10291G>C	c.(10291-10293)Ggg>Cgg	p.G3431R	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3391R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3262R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3361R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3431	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTGTATACCCATGAGATGGA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10291-10293)GGG>CGG		CUB and Sushi multiple domains 3 isoform 1							135.0	118.0	123.0					8																	113256734		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256734C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10291G>C	8.37:g.113256734C>G	ENSP00000297405:p.Gly3431Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2633R|CSMD3_uc003ynt.2_Missense_Mutation_p.G3391R|CSMD3_uc011lhx.1_Missense_Mutation_p.G3262R	p.G3431R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			65	10450	-			3431			Extracellular (Potential).|Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10291G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736304	0.69189	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	0.153020	0.42682	D	0.000679	D	0.86826	0.6026	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.998;1.0	D	0.88134	0.2840	10	0.66056	D	0.02	.	19.3052	0.94158	0.0:1.0:0.0:0.0	.	3262;3431;3391	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	3391;3431;2701;3262;3361	ENSP00000345799:G3391R;ENSP00000297405:G3431R;ENSP00000341558:G2701R;ENSP00000412263:G3262R;ENSP00000343124:G3361R	ENSP00000297405:G3431R	G	-	1	0	CSMD3	113325910	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	7.458000	0.80787	2.793000	0.96121	0.591000	0.81541	GGG		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
GPR20	2843	broad.mit.edu	37	8	142367058	142367058	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:142367058G>A	ENST00000377741.3	-	2	1056	c.966C>T	c.(964-966)agC>agT	p.S322S	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	322					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACGTCACCGCTGCTGGGCT	0.657																																						uc003ywf.2																			0				upper_aerodigestive_tract(1)	1						c.(964-966)AGC>AGT		G protein-coupled receptor 20							75.0	64.0	68.0					8																	142367058		2203	4300	6503	SO:0001819	synonymous_variant	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367058G>A	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.966C>T	8.37:g.142367058G>A							p.S322S	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	1055	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		322			Cytoplasmic (Potential).		Q17R96	Silent	SNP	ENST00000377741.3	37	c.966C>T	CCDS34949.1																																																																																				0.657	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293	
TMEM2	23670	broad.mit.edu	37	9	74319626	74319626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:74319626G>A	ENST00000377044.4	-	18	3618	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.Q964*|TMEM2_ENST00000396272.3_Nonsense_Mutation_p.Q20*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1027					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCAGCCTTCTGATTAATACCT	0.483																																						uc011lsa.1																			0				ovary(2)	2						c.(3079-3081)CAG>TAG		transmembrane protein 2 isoform a							141.0	116.0	125.0					9																	74319626		2203	4300	6503	SO:0001587	stop_gained	23670					integral to membrane		g.chr9:74319626G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3079C>T	9.37:g.74319626G>A	ENSP00000366243:p.Gln1027*					TMEM2_uc011lrz.1_Nonsense_Mutation_p.Q20*|TMEM2_uc010mos.2_Nonsense_Mutation_p.Q964*|TMEM2_uc011lsb.1_RNA	p.Q1027*	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	18	3619	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1027					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Nonsense_Mutation	SNP	ENST00000377044.4	37	c.3079C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	37	6.123918	0.97305	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055;ENST00000377043	.	.	.	5.58	5.58	0.84498	.	0.187360	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	19.5601	0.95368	0.0:0.0:1.0:0.0	.	.	.	.	X	1027;964;20;56;128	.	ENSP00000366242:Q128X	Q	-	1	0	TMEM2	73509446	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.296000	0.72751	2.612000	0.88384	0.561000	0.74099	CAG		0.483	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
ZNF883	169834	broad.mit.edu	37	9	115760403	115760403	+	lincRNA	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:115760403C>T	ENST00000427548.1	-	0	1410							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GGACTTACCACATATTTTACA	0.373																																						uc011lwy.1																			0					0						c.(136-138)TGT>TAT		hypothetical protein LOC169834							56.0	62.0	60.0					9																	115760403		2127	4264	6391			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760403C>T	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760403C>T							p.C46Y	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	1376	-			46			C2H2-type 2.			Missense_Mutation	SNP	ENST00000427548.1	37	c.137G>A																																																																																					0.373	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338	
ZNF883	169834	broad.mit.edu	37	9	115760511	115760511	+	lincRNA	SNP	G	G	A	rs369861735		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:115760511G>A	ENST00000427548.1	-	0	1302							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ATATGGGTTCGCGGTCATATA	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		18238	0.0		0.0	False		,,,				2504	0.001					uc011lwy.1																			0					0						c.(28-30)GCG>GTG		hypothetical protein LOC169834		G	VAL/ALA	0,3738		0,0,1869	74.0	74.0	74.0		29	-1.7	0.0	9		74	1,8115		0,1,4057	no	missense	ZNF883	NM_001101338.1	64	0,1,5926	AA,AG,GG		0.0123,0.0,0.0084	benign	10/380	115760511	1,11853	1869	4058	5927			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760511G>A	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760511G>A							p.A10V	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	1268	-			10						Missense_Mutation	SNP	ENST00000427548.1	37	c.29C>T																																																																																					0.368	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338	
PRPF4	9128	broad.mit.edu	37	9	116038922	116038922	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:116038922G>A	ENST00000374198.4	+	2	227	c.125G>A	c.(124-126)cGt>cAt	p.R42H	CDC26_ENST00000374206.3_5'Flank|PRPF4_ENST00000374199.4_Missense_Mutation_p.R41H|CDC26_ENST00000490408.1_5'Flank	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	42					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GAGAGGGAGCGTCTGGCCAAA	0.458																																						uc004bgx.2																			0				ovary(2)|pancreas(1)	3						c.(124-126)CGT>CAT		PRP4 pre-mRNA processing factor 4 homolog							138.0	148.0	144.0					9																	116038922		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116038922G>A	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.125G>A	9.37:g.116038922G>A	ENSP00000363313:p.Arg42His					FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.2_Missense_Mutation_p.R41H	p.R42H	NM_004697	NP_004688	O43172	PRP4_HUMAN			2	175	+			42					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.125G>A	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577975	0.86645	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.64803	-0.12;-0.07	5.97	5.97	0.96955	.	0.054263	0.85682	D	0.000000	T	0.55465	0.1922	L	0.60455	1.87	0.80722	D	1	P;P	0.43885	0.82;0.665	B;B	0.28232	0.087;0.055	T	0.61192	-0.7112	10	0.42905	T	0.14	.	18.9978	0.92819	0.0:0.0:1.0:0.0	.	57;42	Q59EL4;O43172	.;PRP4_HUMAN	H	41;42	ENSP00000363315:R41H;ENSP00000363313:R42H	ENSP00000363313:R42H	R	+	2	0	PRPF4	115078743	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	8.814000	0.91968	2.838000	0.97847	0.561000	0.74099	CGT		0.458	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697	
PKN3	29941	broad.mit.edu	37	9	131482499	131482499	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:131482499G>A	ENST00000291906.4	+	21	2787	c.2394G>A	c.(2392-2394)ccG>ccA	p.P798P	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGAAGTGCCCGGAGAAGCGCC	0.657																																						uc004bvw.2																			0				stomach(2)|lung(2)	4						c.(2392-2394)CCG>CCA		protein kinase PKNbeta							43.0	48.0	46.0					9																	131482499		2203	4300	6503	SO:0001819	synonymous_variant	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131482499G>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2394G>A	9.37:g.131482499G>A						PKN3_uc010myh.2_Silent_p.P798P|PKN3_uc011mbk.1_Silent_p.P348P	p.P798P	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN			21	2787	+			798			Protein kinase.		Q9UM03	Silent	SNP	ENST00000291906.4	37	c.2394G>A	CCDS6908.1																																																																																				0.657	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355	
KCNT1	57582	broad.mit.edu	37	9	138662162	138662162	+	Silent	SNP	G	G	A	rs138352399		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:138662162G>A	ENST00000263604.3	+	17	1581	c.1581G>A	c.(1579-1581)ccG>ccA	p.P527P	KCNT1_ENST00000490355.2_Silent_p.P527P|KCNT1_ENST00000486577.2_Silent_p.P507P|KCNT1_ENST00000488444.2_Silent_p.P527P|KCNT1_ENST00000491806.2_Silent_p.P513P|KCNT1_ENST00000487664.1_Silent_p.P501P|KCNT1_ENST00000371757.2_Silent_p.P546P|KCNT1_ENST00000298480.5_Silent_p.P546P			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	527	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGGAGTCTCCGGAGCAGTGGC	0.682													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15857	0.0		0.0	False		,,,				2504	0.0					uc011mdq.1																			0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(1636-1638)CCG>CCA		potassium channel, subfamily T, member 1		G		4,4400	8.1+/-20.4	0,4,2198	46.0	40.0	42.0		1638	-8.5	0.1	9	dbSNP_134	42	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	KCNT1	NM_020822.2		0,5,6496	AA,AG,GG		0.0116,0.0908,0.0385		546/1236	138662162	5,12997	2202	4299	6501	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138662162G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1581G>A	9.37:g.138662162G>A						KCNT1_uc011mdr.1_Silent_p.P373P|KCNT1_uc010nbf.2_Silent_p.P501P|KCNT1_uc004cgo.1_Silent_p.P295P	p.P546P	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	17	1712	+		Myeloproliferative disorder(178;0.0821)	546					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.1638G>A																																																																																					0.682	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
WWC3	55841	broad.mit.edu	37	X	10058926	10058926	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:10058926C>T	ENST00000380861.4	+	6	884	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	WWC3_ENST00000454666.1_Missense_Mutation_p.R165W	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	165					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GAAGGAGAGGCGGGACCTGAT	0.423													C|||	1	0.000264901	0.0	0.0	3775	,	,		13055	0.001		0.0	False		,,,				2504	0.0					uc004csx.3																			0				ovary(4)	4						c.(493-495)CGG>TGG		WWC family member 3							108.0	93.0	98.0					X																	10058926		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10058926C>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.493C>T	X.37:g.10058926C>T	ENSP00000370242:p.Arg165Trp					WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	p.R165W	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			6	691	+			165					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.493C>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888241	0.91814	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.05258	3.47;3.47	5.22	5.22	0.72569	.	0.279655	0.37136	N	0.002229	T	0.18383	0.0441	L	0.51422	1.61	0.52099	D	0.999945	D	0.89917	1.0	P	0.59424	0.857	T	0.00234	-1.1893	10	0.72032	D	0.01	-36.5059	18.0834	0.89449	0.0:1.0:0.0:0.0	.	165	Q9ULE0	WWC3_HUMAN	W	165	ENSP00000370242:R165W;ENSP00000399584:R165W	ENSP00000370242:R165W	R	+	1	2	WWC3	10018926	1.000000	0.71417	0.988000	0.46212	0.781000	0.44180	5.699000	0.68310	2.292000	0.77174	0.506000	0.49869	CGG		0.423	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
IGSF1	3547	broad.mit.edu	37	X	130409145	130409145	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:130409145C>T	ENST00000361420.3	-	17	3379	c.3300G>A	c.(3298-3300)aaG>aaA	p.K1100K	IGSF1_ENST00000370910.1_Silent_p.K1091K|IGSF1_ENST00000370904.1_Silent_p.K1091K|IGSF1_ENST00000370903.3_Silent_p.K1105K|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1100	Ig-like C2-type 11.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGCCCCCTCCTTCAACAGGA	0.547																																						uc004ewd.2																			0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3298-3300)AAG>AAA		immunoglobulin superfamily, member 1 isoform 1							153.0	153.0	153.0					X																	130409145		2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409145C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3300G>A	X.37:g.130409145C>T						IGSF1_uc004ewe.3_Silent_p.K1094K|IGSF1_uc004ewf.2_Silent_p.K1080K	p.K1100K	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			17	3538	-			1100			Extracellular (Potential).|Ig-like C2-type 11.		B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.3300G>A	CCDS14629.1																																																																																				0.547	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
MAGEC1	9947	broad.mit.edu	37	X	140995944	140995944	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:140995944T>C	ENST00000285879.4	+	4	3040	c.2754T>C	c.(2752-2754)ttT>ttC	p.F918F	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	918	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCGCGGTTTCTTCTCCTCA	0.483										HNSCC(15;0.026)																												uc004fbt.2																			0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2752-2754)TTT>TTC		melanoma antigen family C, 1							164.0	160.0	161.0					X																	140995944		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995944T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2754T>C	X.37:g.140995944T>C		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_5'UTR	p.F918F	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3040	+	Acute lymphoblastic leukemia(192;6.56e-05)		918			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2754T>C	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
