#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AADACL3	126767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12785830	12785830	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:12785830G>T	ENST00000359318.5	+	4	1125	c.920G>T	c.(919-921)gGa>gTa	p.G307V	AADACL3_ENST00000332530.3_Missense_Mutation_p.G237V	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	307							hydrolase activity (GO:0016787)	p.G237V(1)|p.G307V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGACCTGGGAGTGCCCGTG	0.517																																																	2	Substitution - Missense(2)	kidney(2)											71.0	72.0	71.0					1																	12785830		1999	4153	6152	SO:0001583	missense	126767				CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.920G>T	1.37:g.12785830G>T	ENSP00000352268:p.Gly307Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434399	0.62955	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.21031	2.03;2.03	5.54	4.6	0.57074	Alpha/beta hydrolase fold-3 (1);	0.311164	0.35320	N	0.003284	T	0.58438	0.2122	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.71576	-0.4551	10	0.87932	D	0	-11.6791	12.6318	0.56661	0.0828:0.0:0.9172:0.0	.	307;237	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	V	237;307	ENSP00000333352:G237V;ENSP00000352268:G307V	ENSP00000333352:G237V	G	+	2	0	AADACL3	12708417	0.999000	0.42202	0.651000	0.29564	0.767000	0.43475	3.436000	0.52856	1.261000	0.44149	0.491000	0.48974	GGA		0.517	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2		NM_001103170	
ACSL6	23305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131296216	131296216	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr5:131296216A>T	ENST00000379240.1	-	19	2034	c.1881T>A	c.(1879-1881)aaT>aaA	p.N627K	AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379246.1_Missense_Mutation_p.N638K|ACSL6_ENST00000296869.4_Missense_Mutation_p.N652K|ACSL6_ENST00000379255.1_Missense_Mutation_p.N552K|ACSL6_ENST00000543479.1_Missense_Mutation_p.N627K|ACSL6_ENST00000431707.1_Missense_Mutation_p.N607K|ACSL6_ENST00000379249.3_Missense_Mutation_p.N627K|ACSL6_ENST00000379272.2_Missense_Mutation_p.N642K|ACSL6_ENST00000357096.1_Missense_Mutation_p.N552K|ACSL6_ENST00000379264.2_Missense_Mutation_p.N652K|ACSL6_ENST00000544770.1_Missense_Mutation_p.N536K|ACSL6_ENST00000379244.1_Missense_Mutation_p.N627K			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	627					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.N652K(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACCAACCTTATTTGTGCAGA	0.448																																																	2	Substitution - Missense(2)	kidney(2)											179.0	163.0	168.0					5																	131296216		2203	4300	6503	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1881T>A	5.37:g.131296216A>T	ENSP00000368542:p.Asn627Lys	Somatic		WXS	Illumina HiSeq	Phase_I	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	A	12.15	1.851574	0.32699	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.16743	2.32;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99	5.68	1.84	0.25277	.	0.210114	0.56097	N	0.000025	T	0.18593	0.0446	M	0.74389	2.26	0.45690	D	0.998607	B;B;B;B;B;B;B	0.19445	0.008;0.016;0.012;0.005;0.009;0.036;0.021	B;B;B;B;B;B;B	0.25987	0.028;0.046;0.016;0.012;0.028;0.065;0.045	T	0.04509	-1.0946	10	0.52906	T	0.07	.	4.5377	0.12042	0.6881:0.1251:0.0669:0.1199	.	627;642;617;627;552;652;652	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	K	627;652;642;552;552;652;638;627;536;627;607;627	ENSP00000368551:N627K;ENSP00000368566:N652K;ENSP00000368574:N642K;ENSP00000349608:N552K;ENSP00000368557:N552K;ENSP00000296869:N652K;ENSP00000368548:N638K;ENSP00000368546:N627K;ENSP00000445154:N536K;ENSP00000368542:N627K;ENSP00000413329:N607K;ENSP00000442124:N627K	ENSP00000296869:N652K	N	-	3	2	ACSL6	131324115	1.000000	0.71417	0.612000	0.29024	0.384000	0.30261	2.892000	0.48625	0.390000	0.25115	0.459000	0.35465	AAT		0.448	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1		NM_015256	
ARHGEF15	22899	hgsc.bcm.edu;ucsc.edu	37	17	8216256	8216256	+	Frame_Shift_Del	DEL	C	C	-	rs138521691	byFrequency	TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr17:8216256delC	ENST00000361926.3	+	3	728	c.618delC	c.(616-618)tgcfs	p.C206fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Del_p.C206fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	206					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCCTGGCCTGCCCTCCCTGCT	0.672																																																	0													78.0	95.0	89.0					17																	8216256		2200	4291	6491	SO:0001589	frameshift_variant	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.618delC	17.37:g.8216256delC	ENSP00000355026:p.Cys206fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Del	DEL	ENST00000361926.3	37	CCDS11139.1																																																																																				0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2		NM_173728	
CDYL	9425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	4735076	4735076	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:4735076C>G	ENST00000328908.5	+	3	315	c.184C>G	c.(184-186)Cag>Gag	p.Q62E				Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	62	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.Q62E(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TCCCGCTTTACAGGTAGGTCT	0.557																																																	1	Substitution - Missense(1)	kidney(1)											67.0	65.0	66.0					6																	4735076		2203	4300	6503	SO:0001583	missense	9425			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.184C>G	6.37:g.4735076C>G	ENSP00000330512:p.Gln62Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	RNA	SNP	ENST00000328908.5	37		.	.	.	.	.	.	.	.	.	.	C	0.105	-1.147200	0.01714	.	.	ENSG00000153046	ENST00000328908	T	0.68479	-0.33	1.2	-0.968	0.10313	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	.	.	.	.	T	0.11067	0.0270	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.21586	-1.0241	8	0.02654	T	1	.	1.7863	0.03042	0.326:0.435:0.0:0.239	.	62	Q9Y232	CDYL1_HUMAN	E	62	ENSP00000330512:Q62E	ENSP00000330512:Q62E	Q	+	1	0	CDYL	4680075	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.935000	0.03950	-0.368000	0.08040	-0.293000	0.09583	CAG		0.557	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1		NM_004824	
CLTCL1	8218	broad.mit.edu;hgsc.bcm.edu	37	22	19210260	19210260	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr22:19210260G>C	ENST00000263200.10	-	15	2437	c.2365C>G	c.(2365-2367)Cta>Gta	p.L789V	CLTCL1_ENST00000353891.5_Missense_Mutation_p.L789V|CLTCL1_ENST00000427926.1_Missense_Mutation_p.L789V	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	789	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.L789V(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TATAAATATAGGACAAGGTCA	0.527			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	1	Substitution - Missense(1)	kidney(1)											99.0	104.0	103.0					22																	19210260		2076	4203	6279	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2365C>G	22.37:g.19210260G>C	ENSP00000445677:p.Leu789Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417644	0.25552	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.19250	2.16;2.16;2.16	3.89	-0.721	0.11189	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000008	T	0.43567	0.1253	M	0.87180	2.865	0.53005	D	0.999967	P;D	0.71674	0.851;0.998	P;D	0.91635	0.702;0.999	T	0.27971	-1.0058	10	0.36615	T	0.2	-8.0011	8.5817	0.33632	0.3227:0.0:0.6773:0.0	.	789;789	P53675-2;P53675	.;CLH2_HUMAN	V	789	ENSP00000439662:L789V;ENSP00000445677:L789V;ENSP00000441158:L789V	ENSP00000445677:L789V	L	-	1	2	CLTCL1	17590260	1.000000	0.71417	0.035000	0.18076	0.012000	0.07955	4.801000	0.62532	-0.231000	0.09825	-0.379000	0.06801	CTA		0.527	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5		NM_007098	
CNTN5	53942	broad.mit.edu;hgsc.bcm.edu	37	11	100226891	100226891	+	Silent	SNP	C	C	G			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr11:100226891C>G	ENST00000524871.1	+	25	3533	c.3243C>G	c.(3241-3243)tcC>tcG	p.S1081S	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Silent_p.S1007S|CNTN5_ENST00000279463.3_Silent_p.S1081S|CNTN5_ENST00000528682.1_Silent_p.S1081S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1081					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S1081S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACTCTCTCTCCACATCTTCGT	0.418																																																	2	Substitution - coding silent(2)	kidney(2)											143.0	138.0	139.0					11																	100226891		1991	4167	6158	SO:0001819	synonymous_variant	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3243C>G	11.37:g.100226891C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	CCDS53696.1																																																																																				0.418	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2		NM_014361	
CPA6	57094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	68396051	68396051	+	Missense_Mutation	SNP	G	G	T	rs375296440		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr8:68396051G>T	ENST00000297770.4	-	8	1005	c.790C>A	c.(790-792)Cgc>Agc	p.R264S	CPA6_ENST00000297769.4_Missense_Mutation_p.R116S|CPA6_ENST00000518549.1_Missense_Mutation_p.R264S	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	264						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R264S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CCACGGCAGCGAAACCTTGAG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											197.0	176.0	183.0					8																	68396051		2203	4300	6503	SO:0001583	missense	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.790C>A	8.37:g.68396051G>T	ENSP00000297770:p.Arg264Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968774	0.34754	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.27557	1.66;1.66;4.04	5.18	5.18	0.71444	Peptidase M14, carboxypeptidase A (2);	0.478710	0.24274	N	0.039962	T	0.12987	0.0315	N	0.02916	-0.46	0.43417	D	0.995566	P;P;B	0.43578	0.657;0.811;0.001	B;B;B	0.37346	0.184;0.247;0.013	T	0.15838	-1.0423	10	0.06891	T	0.86	.	17.8356	0.88696	0.0:0.0:1.0:0.0	.	264;116;264	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	S	116;264;264	ENSP00000297769:R116S;ENSP00000297770:R264S;ENSP00000431112:R264S	ENSP00000297769:R116S	R	-	1	0	CPA6	68558605	1.000000	0.71417	0.958000	0.39756	0.947000	0.59692	4.849000	0.62882	2.567000	0.86603	0.643000	0.83706	CGC		0.423	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2		NM_020361	
CTDP1	9150	broad.mit.edu;hgsc.bcm.edu	37	18	77475251	77475251	+	Silent	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr18:77475251G>C	ENST00000299543.7	+	8	1938	c.1791G>C	c.(1789-1791)ctG>ctC	p.L597L	CTDP1_ENST00000075430.7_Silent_p.L597L	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	597					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.L597L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGGAGATCCTGGTCCGTGTAC	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	66.0	72.0					18																	77475251		2203	4300	6503	SO:0001819	synonymous_variant	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1791G>C	18.37:g.77475251G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	CCDS12017.1																																																																																				0.592	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1		NM_004715	
CYB5RL	606495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54644949	54644949	+	Missense_Mutation	SNP	T	T	G	rs369076808		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:54644949T>G	ENST00000534324.1	-	5	616	c.617A>C	c.(616-618)aAt>aCt	p.N206T	CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000401046.3_Missense_Mutation_p.N58T|CYB5RL_ENST00000542737.1_Missense_Mutation_p.N206T|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000419823.2_Missense_Mutation_p.N206T			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	206							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.N206T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GTCATTCTCATTGTCTGTGAT	0.537																																																	1	Substitution - Missense(1)	kidney(1)											61.0	66.0	64.0					1																	54644949		1999	4161	6160	SO:0001583	missense	606495				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.617A>C	1.37:g.54644949T>G	ENSP00000434343:p.Asn206Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584104	0.65992	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000542737;ENST00000493530	D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13	5.37	5.37	0.77165	Oxidoreductase FAD/NAD(P)-binding (1);	0.640870	0.12545	U	0.459524	D	0.91901	0.7436	M	0.72118	2.19	0.30100	N	0.807514	D;D	0.61697	0.982;0.99	P;P	0.59825	0.864;0.843	D	0.88440	0.3041	10	0.72032	D	0.01	-6.4061	13.9555	0.64144	0.0:0.0:0.0:1.0	.	206;58	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	T	206;58;206;206;120	ENSP00000409075:N206T;ENSP00000383825:N58T;ENSP00000434343:N206T;ENSP00000438151:N206T;ENSP00000434606:N120T	ENSP00000383825:N58T	N	-	2	0	CYB5RL	54417537	1.000000	0.71417	0.881000	0.34555	0.537000	0.34900	5.501000	0.66950	2.028000	0.59812	0.533000	0.62120	AAT		0.537	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1		NM_001031672	
DAZAP1	26528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1433802	1433802	+	Intron	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:1433802C>T	ENST00000233078.4	+	12	1209				DAZAP1_ENST00000336761.6_Silent_p.V371V	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1						cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)	p.V371V(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTATGGTCAGGCTGAGCA	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											129.0	109.0	116.0					19																	1433802		2203	4300	6503	SO:0001627	intron_variant	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1049-934C>T	19.37:g.1433802C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q96MJ3|Q9NRR9	Silent	SNP	ENST00000233078.4	37	CCDS12065.1																																																																																				0.642	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3		NM_170711	
DNAI1	27019	broad.mit.edu;hgsc.bcm.edu	37	9	34490013	34490013	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr9:34490013C>T	ENST00000242317.4	+	6	563	c.392C>T	c.(391-393)tCt>tTt	p.S131F	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	131					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.S131F(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TACCAAGGTTCTCAGGAGTCT	0.498									Kartagener syndrome																																								1	Substitution - Missense(1)	kidney(1)											49.0	52.0	51.0					9																	34490013		2203	4300	6503	SO:0001583	missense	27019	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.392C>T	9.37:g.34490013C>T	ENSP00000242317:p.Ser131Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309793	0.60414	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.75367	1.53;-0.93	5.35	5.35	0.76521	.	0.360886	0.23975	N	0.042722	T	0.70561	0.3238	L	0.53249	1.67	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.65573	-0.6135	10	0.45353	T	0.12	.	15.2947	0.73894	0.0:1.0:0.0:0.0	.	131	Q9UI46	DNAI1_HUMAN	F	120;131;120	ENSP00000242317:S131F;ENSP00000395396:S120F	ENSP00000242317:S131F	S	+	2	0	DNAI1	34480013	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.240000	0.51368	2.894000	0.99253	0.655000	0.94253	TCT		0.498	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			
ELF1	1997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41507956	41507956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr13:41507956G>A	ENST00000239882.3	-	9	1779	c.1465C>T	c.(1465-1467)Caa>Taa	p.Q489*	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Nonsense_Mutation_p.Q465*	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	489					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q489*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCCGCCTTTTGTGACTGCAGC	0.473																																																	1	Substitution - Nonsense(1)	kidney(1)											134.0	142.0	139.0					13																	41507956		2203	4300	6503	SO:0001587	stop_gained	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1465C>T	13.37:g.41507956G>A	ENSP00000239882:p.Gln489*	Somatic		WXS	Illumina HiSeq	Phase_I	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Nonsense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957830	0.92726	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	.	.	.	5.21	4.36	0.52297	.	0.257065	0.33364	N	0.004981	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.4787	0.61324	0.0758:0.0:0.9242:0.0	.	.	.	.	X	465;231;489	.	ENSP00000239882:Q489X	Q	-	1	0	ELF1	40405956	0.997000	0.39634	0.810000	0.32431	0.251000	0.25915	3.830000	0.55768	1.179000	0.42884	0.591000	0.81541	CAA		0.473	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3		NM_172373	
EP400	57634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	132511994	132511994	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:132511994G>A	ENST00000333577.4	+	27	5244	c.5135G>A	c.(5134-5136)gGc>gAc	p.G1712D	EP400_ENST00000389561.2_Missense_Mutation_p.G1676D|EP400_ENST00000389562.2_Missense_Mutation_p.G1675D|EP400_ENST00000330386.6_Missense_Mutation_p.G1595D|EP400_ENST00000332482.4_Missense_Mutation_p.G1639D			Q96L91	EP400_HUMAN	E1A binding protein p400	1712					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.G1675D(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCGTTCCGGGCCGCGTGGCG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											68.0	65.0	66.0					12																	132511994		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5135G>A	12.37:g.132511994G>A	ENSP00000333602:p.Gly1712Asp	Somatic		WXS	Illumina HiSeq	Phase_I	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	8.531	0.871093	0.17322	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90004	-2.59;-2.59;-2.6;-2.59;-2.6	5.67	5.67	0.87782	.	0.317970	0.32459	N	0.006076	D	0.89308	0.6678	L	0.50333	1.59	0.19945	N	0.999944	D;D;D	0.55800	0.973;0.973;0.973	P;P;P	0.50192	0.634;0.634;0.634	T	0.82973	-0.0191	10	0.32370	T	0.25	.	16.9266	0.86178	0.0:0.0:1.0:0.0	.	1676;1595;1675	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	D	1712;1676;1675;1639;1595;1676;1595	ENSP00000333602:G1712D;ENSP00000374212:G1676D;ENSP00000374213:G1675D;ENSP00000331737:G1639D;ENSP00000330620:G1595D	ENSP00000330620:G1595D	G	+	2	0	EP400	131077947	0.997000	0.39634	0.027000	0.17364	0.043000	0.13939	5.430000	0.66501	2.697000	0.92050	0.655000	0.94253	GGC		0.557	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409	
EYS	346007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	66063414	66063414	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:66063414G>T	ENST00000370621.3	-	9	1922	c.1396C>A	c.(1396-1398)Cat>Aat	p.H466N	EYS_ENST00000393380.2_Missense_Mutation_p.H466N|EYS_ENST00000370616.2_Missense_Mutation_p.H466N|EYS_ENST00000370618.3_Missense_Mutation_p.H466N|EYS_ENST00000342421.5_Missense_Mutation_p.H466N|EYS_ENST00000503581.1_Missense_Mutation_p.H466N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	466					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.H466N(4)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAAATACCATGGAAGGTGACT	0.373																																																	4	Substitution - Missense(4)	lung(2)|kidney(2)											115.0	105.0	109.0					6																	66063414		2203	4300	6503	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1396C>A	6.37:g.66063414G>T	ENSP00000359655:p.His466Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	g	12.07	1.828958	0.32329	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	4.14	1.97	0.26223	.	.	.	.	.	T	0.42539	0.1207	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.001;0.003;0.004	T	0.31280	-0.9949	9	0.10377	T	0.69	.	8.6449	0.34000	0.0:0.0:0.4119:0.5881	.	466;466;466	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	466	ENSP00000424243:H466N;ENSP00000359655:H466N;ENSP00000359650:H466N;ENSP00000377042:H466N;ENSP00000341818:H466N;ENSP00000359652:H466N	ENSP00000341818:H466N	H	-	1	0	EYS	66120135	0.000000	0.05858	0.001000	0.08648	0.099000	0.18886	-0.117000	0.10708	0.685000	0.31468	0.591000	0.81541	CAT		0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3		XM_294050	
MVB12A	93343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17533164	17533164	+	Missense_Mutation	SNP	C	C	T	rs146357246		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:17533164C>T	ENST00000317040.7	+	4	1365	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	MVB12A_ENST00000528515.1_Intron|MVB12A_ENST00000543795.1_Missense_Mutation_p.R104C|CTD-2521M24.8_ENST00000597028.1_RNA|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000392702.2_Missense_Mutation_p.R104C|MVB12A_ENST00000529939.1_Missense_Mutation_p.R104C			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	104	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)	p.R104C(1)									CAAGAAGAAACGCATGTGTGT	0.582																																																	1	Substitution - Missense(1)	kidney(1)						C	CYS/ARG	0,4406		0,0,2203	122.0	108.0	113.0		310	1.8	0.7	19	dbSNP_134	113	1,8599		0,1,4299	no	missense	FAM125A	NM_138401.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	104/274	17533164	1,13005	2203	4300	6503	SO:0001583	missense	0			BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.310C>T	19.37:g.17533164C>T	ENSP00000324810:p.Arg104Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q96I18	Missense_Mutation	SNP	ENST00000317040.7	37	CCDS12359.1	.	.	.	.	.	.	.	.	.	.	.	12.57	1.978515	0.34942	0.0	1.16E-4	ENSG00000141971	ENST00000528911;ENST00000317040;ENST00000392702;ENST00000529939;ENST00000543795	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.3	1.77	0.24775	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.71581	2.175	0.47949	D	0.999559	D	0.89917	1.0	D	0.91635	0.999	T	0.59418	-0.7458	10	0.72032	D	0.01	-4.1367	5.565	0.17165	0.3513:0.5559:0.0:0.0927	.	104	Q96EY5	F125A_HUMAN	C	12;104;104;104;104	ENSP00000433280:R12C;ENSP00000324810:R104C;ENSP00000376466:R104C;ENSP00000432526:R104C;ENSP00000444653:R104C	ENSP00000324810:R104C	R	+	1	0	FAM125A	17394164	0.920000	0.31207	0.739000	0.30968	0.044000	0.14063	1.292000	0.33342	0.616000	0.30141	-1.077000	0.02231	CGC		0.582	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2		NM_138401	
CMTR2	55783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71318530	71318530	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr16:71318530T>C	ENST00000338099.5	-	3	1630	c.1294A>G	c.(1294-1296)Aaa>Gaa	p.K432E	CMTR2_ENST00000434935.2_Missense_Mutation_p.K432E			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	432					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.K432E(1)									CCAAACCATTTTGTATTTGTA	0.294																																																	1	Substitution - Missense(1)	kidney(1)											42.0	44.0	43.0					16																	71318530		2197	4293	6490	SO:0001583	missense	55783			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1294A>G	16.37:g.71318530T>C	ENSP00000337512:p.Lys432Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.940822	0.34283	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.15603	2.41;2.41	5.95	5.95	0.96441	.	0.059424	0.64402	D	0.000002	T	0.29355	0.0731	L	0.50333	1.59	0.43338	D	0.99538	D	0.62365	0.991	P	0.55923	0.787	T	0.01294	-1.1393	10	0.23891	T	0.37	-23.1304	15.5864	0.76485	0.0:0.0:0.0:1.0	.	432	Q8IYT2	FTSJ1_HUMAN	E	432	ENSP00000337512:K432E;ENSP00000411148:K432E	ENSP00000337512:K432E	K	-	1	0	FTSJD1	69876031	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.366000	0.59492	2.279000	0.76181	0.402000	0.26972	AAA		0.294	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2		NM_018348	
GNAI2	2771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	50294255	50294255	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr3:50294255G>T	ENST00000313601.6	+	6	1078	c.694G>T	c.(694-696)Gac>Tac	p.D232Y	GNAI2_ENST00000536647.1_Missense_Mutation_p.D151Y|GNAI2_ENST00000422163.1_Missense_Mutation_p.D216Y|GNAI2_ENST00000440628.1_Missense_Mutation_p.D180Y|GNAI2_ENST00000266027.5_Missense_Mutation_p.D216Y|GNAI2_ENST00000451956.1_Missense_Mutation_p.D195Y|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	232					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.D232Y(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GAGCGCCTATGACTTGGTGCT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											129.0	121.0	124.0					3																	50294255		2203	4300	6503	SO:0001583	missense	2771			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.694G>T	3.37:g.50294255G>T	ENSP00000312999:p.Asp232Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	37	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796176	0.90453	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	4.84	4.84	0.62591	.	0.092804	0.64402	D	0.000001	D	0.97895	0.9308	H	0.99312	4.51	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;0.998	D	0.98911	1.0780	10	0.87932	D	0	.	15.8452	0.78883	0.0:0.0:1.0:0.0	.	195;232;216;216	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	Y	216;232;151;232;180;195;216	ENSP00000406871:D216Y;ENSP00000312999:D232Y;ENSP00000444360:D151Y;ENSP00000395736:D180Y;ENSP00000406369:D195Y;ENSP00000266027:D216Y	ENSP00000266027:D216Y	D	+	1	0	GNAI2	50269259	1.000000	0.71417	0.988000	0.46212	0.956000	0.61745	9.596000	0.98267	2.700000	0.92200	0.561000	0.74099	GAC		0.582	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1		NM_002070	
HSPA14	51182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	14890648	14890648	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr10:14890648A>C	ENST00000378372.3	+	4	501	c.262A>C	c.(262-264)Aaa>Caa	p.K88Q		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	88					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.K88Q(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CGCGGAAAGTAAATGTTTAGT	0.318																																																	1	Substitution - Missense(1)	kidney(1)											109.0	95.0	100.0					10																	14890648		2203	4299	6502	SO:0001583	missense	51182			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.262A>C	10.37:g.14890648A>C	ENSP00000367623:p.Lys88Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867002	0.72065	.	.	ENSG00000187522	ENST00000378372	T	0.00976	5.48	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.01661	0.0053	L	0.48986	1.54	0.80722	D	1	P	0.39535	0.677	B	0.37091	0.241	T	0.63703	-0.6577	10	0.87932	D	0	-29.3656	16.3043	0.82842	1.0:0.0:0.0:0.0	.	88	Q0VDF9	HSP7E_HUMAN	Q	88	ENSP00000367623:K88Q	ENSP00000367623:K88Q	K	+	1	0	HSPA14	14930654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.542000	0.60677	2.231000	0.72958	0.533000	0.62120	AAA		0.318	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1		NM_016299	
IL1RAP	3556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	190321925	190321925	+	Missense_Mutation	SNP	G	G	A	rs376392541		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr3:190321925G>A	ENST00000412504.2	+	3	325	c.73G>A	c.(73-75)Gat>Aat	p.D25N	IL1RAP_ENST00000317757.3_Missense_Mutation_p.D25N|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000443369.2_Missense_Mutation_p.D25N|IL1RAP_ENST00000439062.1_Missense_Mutation_p.D25N|IL1RAP_ENST00000422940.1_Missense_Mutation_p.D25N|IL1RAP_ENST00000447382.1_Missense_Mutation_p.D25N|IL1RAP_ENST00000422485.1_Missense_Mutation_p.D25N|IL1RAP_ENST00000072516.3_Missense_Mutation_p.D25N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	25	Ig-like C2-type 1.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)	p.D25N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AGAACGCTGCGATGACTGGGG	0.448																																																	2	Substitution - Missense(2)	kidney(2)						G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	72.0	68.0	70.0		73,73,73,73,73,73	5.3	1.0	3		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	IL1RAP	NM_001167928.1,NM_001167929.1,NM_001167930.1,NM_001167931.1,NM_002182.3,NM_134470.3	23,23,23,23,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	25/571,25/571,25/357,25/688,25/571,25/357	190321925	1,13005	2203	4300	6503	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.73G>A	3.37:g.190321925G>A	ENSP00000412053:p.Asp25Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029645	0.35797	0.0	1.16E-4	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422625;ENST00000422485;ENST00000422940;ENST00000317757;ENST00000453359	T;T;T;T;T;T;T;T;T	0.44083	5.21;4.87;5.21;5.21;5.21;3.11;3.11;4.87;0.93	5.34	5.34	0.76211	.	0.121633	0.53938	D	0.000042	T	0.39253	0.1071	L	0.36672	1.1	0.48830	D	0.999718	P;P;D	0.64830	0.892;0.828;0.994	B;B;P	0.50537	0.336;0.127;0.643	T	0.04708	-1.0932	10	0.16896	T	0.51	.	11.8307	0.52293	0.08:0.0:0.92:0.0	.	25;25;25	Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;IL1AP_HUMAN;.	N	25	ENSP00000072516:D25N;ENSP00000408893:D25N;ENSP00000412053:D25N;ENSP00000401132:D25N;ENSP00000390541:D25N;ENSP00000409352:D25N;ENSP00000387371:D25N;ENSP00000314807:D25N;ENSP00000412008:D25N	ENSP00000072516:D25N	D	+	1	0	IL1RAP	191804619	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.774000	0.75012	2.664000	0.90586	0.655000	0.94253	GAT		0.448	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			
ITFG1	81533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	47493063	47493063	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr16:47493063C>A	ENST00000320640.6	-	2	460	c.232G>T	c.(232-234)Gca>Tca	p.A78S	ITFG1_ENST00000544001.2_5'UTR|PHKB_ENST00000455779.1_5'Flank|PHKB_ENST00000299167.8_5'Flank|PHKB_ENST00000566044.1_5'Flank|PHKB_ENST00000323584.5_5'Flank	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	78						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A78S(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTCTGGTCTGCCAAAAAGACG	0.264																																																	1	Substitution - Missense(1)	kidney(1)											58.0	65.0	62.0					16																	47493063		2201	4299	6500	SO:0001583	missense	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.232G>T	16.37:g.47493063C>A	ENSP00000319918:p.Ala78Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839870	0.71488	.	.	ENSG00000129636	ENST00000320640	T	0.21361	2.01	5.14	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	L	0.55743	1.74	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.07751	-1.0756	10	0.12766	T	0.61	-20.2274	14.1095	0.65113	0.1515:0.8485:0.0:0.0	.	78	Q8TB96	TIP_HUMAN	S	78	ENSP00000319918:A78S	ENSP00000319918:A78S	A	-	1	0	ITFG1	46050564	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.046000	0.71029	1.141000	0.42275	0.655000	0.94253	GCA		0.264	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3		NM_030790	
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu	37	X	53224222	53224222	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chrX:53224222G>C	ENST00000375401.3	-	22	3861	c.3329C>G	c.(3328-3330)tCa>tGa	p.S1110*	KDM5C_ENST00000404049.3_Nonsense_Mutation_p.S1109*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.S1110*|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.S1043*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.S1069*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1110					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.S1043*(1)|p.S1110*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGTGCTGTCTGAGCCGGCATC	0.622			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Nonsense(2)	kidney(2)											50.0	37.0	41.0					X																	53224222		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3329C>G	X.37:g.53224222G>C	ENSP00000364550:p.Ser1110*	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	g	44	10.928661	0.99490	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	4.78	4.78	0.61160	.	0.300123	0.32430	N	0.006105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-4.082	14.4026	0.67060	0.0:0.0:1.0:0.0	.	.	.	.	X	1043;1110;1109;1110;1069	.	ENSP00000364528:S1110X	S	-	2	0	KDM5C	53240947	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.913000	0.48790	1.976000	0.57569	0.525000	0.51046	TCA		0.622	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
PPP1R26	9858	broad.mit.edu;hgsc.bcm.edu	37	9	138379621	138379621	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr9:138379621T>G	ENST00000356818.2	+	4	3814	c.3265T>G	c.(3265-3267)Ttt>Gtt	p.F1089V	PPP1R26_ENST00000401470.3_Missense_Mutation_p.F1089V|PPP1R26_ENST00000605286.1_Missense_Mutation_p.F1089V|PPP1R26_ENST00000604351.1_Missense_Mutation_p.F1089V|PPP1R26_ENST00000605660.1_Missense_Mutation_p.F1089V|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1089					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.F1089V(1)									GCTCTTCCACTTTGGAAAGGG	0.716																																																	1	Substitution - Missense(1)	kidney(1)											4.0	6.0	5.0					9																	138379621		1660	3607	5267	SO:0001583	missense	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3265T>G	9.37:g.138379621T>G	ENSP00000349274:p.Phe1089Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026289	0.54683	.	.	ENSG00000196422	ENST00000356818	T	0.15952	2.38	5.23	5.23	0.72850	.	0.166929	0.40818	N	0.001003	T	0.28632	0.0709	L	0.34521	1.04	0.36315	D	0.857905	D	0.76494	0.999	D	0.72982	0.979	T	0.18555	-1.0333	10	0.44086	T	0.13	-12.016	11.7866	0.52045	0.0:0.0:0.0:1.0	.	1089	Q5T8A7	PPR26_HUMAN	V	1089	ENSP00000349274:F1089V	ENSP00000349274:F1089V	F	+	1	0	KIAA0649	137519442	1.000000	0.71417	0.306000	0.25113	0.236000	0.25371	1.987000	0.40687	2.097000	0.63578	0.454000	0.30748	TTT		0.716	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1		NM_014811	
FAM214A	56204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52892355	52892355	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr15:52892355A>G	ENST00000261844.7	-	9	2770	c.2618T>C	c.(2617-2619)aTa>aCa	p.I873T	RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.I880T	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	873								p.I873T(1)									AAGACTTGTTATAGGTGGAGC	0.323																																																	1	Substitution - Missense(1)	kidney(1)											107.0	103.0	104.0					15																	52892355		1807	4063	5870	SO:0001583	missense	0			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2618T>C	15.37:g.52892355A>G	ENSP00000261844:p.Ile873Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	8.378	0.836758	0.16891	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.30714	1.52;1.52	5.13	5.13	0.70059	.	0.342640	0.36066	N	0.002805	T	0.19167	0.0460	N	0.22421	0.69	0.27963	N	0.936697	B;B	0.15473	0.013;0.008	B;B	0.12156	0.007;0.003	T	0.13176	-1.0519	10	0.21014	T	0.42	.	9.4781	0.38884	0.9202:0.0:0.0798:0.0	.	880;873	F5H8G0;Q32MH5	.;K1370_HUMAN	T	873;873;872;880	ENSP00000261844:I873T;ENSP00000443598:I880T	ENSP00000261844:I873T	I	-	2	0	KIAA1370	50679647	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	6.066000	0.71185	1.936000	0.56123	0.455000	0.32223	ATA		0.323	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1		NM_019600	
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10434522	10434522	+	Splice_Site	SNP	A	A	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:10434522A>C	ENST00000377086.1	+	46	5297	c.5095A>C	c.(5095-5097)Agc>Cgc	p.S1699R	KIF1B_ENST00000263934.6_Splice_Site_p.S1653R|KIF1B_ENST00000377081.1_Splice_Site_p.S1699R			O60333	KIF1B_HUMAN	kinesin family member 1B	1699					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.S1653R(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AATTAGACCAAGGTGAGTACT	0.428																																																	1	Substitution - Missense(1)	kidney(1)											65.0	69.0	68.0					1																	10434522		2203	4300	6503	SO:0001630	splice_region_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.5096+1A>C	1.37:g.10434522A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	A	22.8	4.341566	0.81911	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.12465	2.68;2.68;2.68	5.62	4.71	0.59529	Pleckstrin homology-type (1);	0.053759	0.85682	D	0.000000	T	0.20536	0.0494	L	0.32530	0.975	0.34787	D	0.735281	P;P;P;B;P;B	0.40553	0.721;0.481;0.592;0.271;0.623;0.002	P;B;B;B;P;B	0.50378	0.639;0.226;0.386;0.375;0.451;0.003	T	0.22765	-1.0207	10	0.66056	D	0.02	.	14.8337	0.70166	0.0691:0.0:0.9309:0.0	.	1685;1659;1699;1673;1699;1653	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	R	1699;1653;1699;1699	ENSP00000263934:S1653R;ENSP00000366290:S1699R;ENSP00000366284:S1699R	ENSP00000263934:S1653R	S	+	1	0	KIF1B	10357109	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.422000	0.80217	1.362000	0.46000	-0.140000	0.14226	AGC		0.428	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			Missense_Mutation
LRIG2	9860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113635893	113635893	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:113635893T>A	ENST00000361127.5	+	3	569	c.371T>A	c.(370-372)cTa>cAa	p.L124Q		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	124					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L124Q(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AATATTACTCTACTTTCATTG	0.254																																																	1	Substitution - Missense(1)	kidney(1)											51.0	51.0	51.0					1																	113635893		2203	4296	6499	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.371T>A	1.37:g.113635893T>A	ENSP00000355396:p.Leu124Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	T	5.287	0.238346	0.10023	.	.	ENSG00000198799	ENST00000361127	T	0.25085	1.82	5.5	0.173	0.15036	.	0.666605	0.14640	N	0.307243	T	0.04137	0.0115	L	0.28776	0.89	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45614	-0.9249	10	0.10902	T	0.67	.	6.2758	0.20979	0.3517:0.0651:0.0:0.5832	.	124	O94898	LRIG2_HUMAN	Q	124	ENSP00000355396:L124Q	ENSP00000355396:L124Q	L	+	2	0	LRIG2	113437416	0.004000	0.15560	0.805000	0.32314	0.898000	0.52572	1.084000	0.30828	-0.232000	0.09811	0.533000	0.62120	CTA		0.254	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2		NM_014813	
LTBP4	8425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41120306	41120306	+	Silent	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:41120306G>A	ENST00000308370.7	+	22	2967	c.2967G>A	c.(2965-2967)cgG>cgA	p.R989R	LTBP4_ENST00000396819.3_Silent_p.R922R|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.R952R|LTBP4_ENST00000243562.9_Silent_p.R87R|LTBP4_ENST00000545697.1_Silent_p.R442R	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	989	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.R989R(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGTGTCCGGGACTGCGATC	0.692																																																	1	Substitution - coding silent(1)	kidney(1)											22.0	27.0	25.0					19																	41120306		1987	4155	6142	SO:0001819	synonymous_variant	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2967G>A	19.37:g.41120306G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37																																																																																					0.692	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_003573	
MAPK12	6300	broad.mit.edu;hgsc.bcm.edu	37	22	50695076	50695076	+	Splice_Site	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr22:50695076C>T	ENST00000215659.8	-	6	772		c.e6-1		MAPK12_ENST00000395780.1_Splice_Site|MAPK12_ENST00000497036.1_Splice_Site	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12						cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCTTCAGGTCCTGGGGGCAGA	0.672																																																	2	Unknown(2)	kidney(2)											67.0	72.0	70.0					22																	50695076		2203	4300	6503	SO:0001630	splice_region_variant	6300			U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.457-1G>A	22.37:g.50695076C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14260|Q6IC53|Q99588|Q99672	Splice_Site	SNP	ENST00000215659.8	37	CCDS14089.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977565	0.74360	.	.	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7618	0.85514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAPK12	49037203	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	7.006000	0.76329	2.193000	0.70182	0.478000	0.44815	.		0.672	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2		NM_002969	Intron
MUC6	4588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1029578	1029578	+	Silent	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr11:1029578G>A	ENST00000421673.2	-	9	1103	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	351	TIL.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.C351C(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACGGGCACGCAGGTGTGGT	0.637																																																	2	Substitution - coding silent(2)	kidney(2)											54.0	66.0	62.0					11																	1029578		2065	4195	6260	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1053C>T	11.37:g.1029578G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.637	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540	
NALCN	259232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	101720287	101720287	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr13:101720287C>A	ENST00000251127.6	-	39	4510	c.4429G>T	c.(4429-4431)Gtg>Ttg	p.V1477L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1477					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.V1477L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTATCATCCACCATGTTCCAT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											119.0	115.0	116.0					13																	101720287		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4429G>T	13.37:g.101720287C>A	ENSP00000251127:p.Val1477Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775407	0.90108	.	.	ENSG00000102452	ENST00000251127	D	0.97731	-4.51	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	L	0.52905	1.665	0.80722	D	1	D	0.61080	0.989	P	0.58970	0.849	D	0.98100	1.0414	10	0.52906	T	0.07	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	1477	Q8IZF0	NALCN_HUMAN	L	1477	ENSP00000251127:V1477L	ENSP00000251127:V1477L	V	-	1	0	NALCN	100518288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.788000	0.95919	0.650000	0.86243	GTG		0.388	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867	
NAV3	89795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	78553024	78553024	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:78553024G>A	ENST00000397909.2	+	23	5000	c.4827G>A	c.(4825-4827)atG>atA	p.M1609I	NAV3_ENST00000228327.6_Missense_Mutation_p.M1609I|NAV3_ENST00000536525.2_Missense_Mutation_p.M1609I|NAV3_ENST00000266692.7_Missense_Mutation_p.M1432I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1609						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.M1609I(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAGGGAATATGACTGGCCGAT	0.398										HNSCC(70;0.22)																																							1	Substitution - Missense(1)	kidney(1)											124.0	115.0	118.0					12																	78553024		1860	4100	5960	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4827G>A	12.37:g.78553024G>A	ENSP00000381007:p.Met1609Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.09|19.09	3.760378|3.760378	0.69763|0.69763	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|D;D;D;D;D	.|0.93859	.|-3.3;-3.3;-3.3;-3.3;-3.3	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.48767	.|U	.|0.000174	D|D	0.96266|0.96266	0.8782|0.8782	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|P;P;B;D	.|0.53745	.|0.632;0.908;0.204;0.962	.|B;D;B;D	.|0.66716	.|0.271;0.922;0.08;0.946	D|D	0.96364|0.96364	0.9268|0.9268	5|10	.|0.87932	.|D	.|0	-19.0171|-19.0171	19.6223|19.6223	0.95663|0.95663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1609;1432;1609;1609	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	N|I	504|1609;1609;1609;1432;230;238	.|ENSP00000446132:M1609I;ENSP00000381007:M1609I;ENSP00000228327:M1609I;ENSP00000266692:M1432I;ENSP00000448303:M238I	.|ENSP00000228327:M1609I	D|M	+|+	1|3	0|0	NAV3|NAV3	77077155|77077155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.063000|9.063000	0.93927|0.93927	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.398	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383	
NEO1	4756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	73585755	73585755	+	Missense_Mutation	SNP	A	A	G	rs548041199		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr15:73585755A>G	ENST00000339362.5	+	27	4214	c.3767A>G	c.(3766-3768)cAt>cGt	p.H1256R	NEO1_ENST00000558964.1_Missense_Mutation_p.H1245R|NEO1_ENST00000560262.1_Intron|NEO1_ENST00000261908.6_Missense_Mutation_p.H1256R			Q92859	NEO1_HUMAN	neogenin 1	1256					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.H1256R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CATCCCATCCATTCCCTCGAT	0.502													A|||	1	0.000199681	0.0	0.0	5008	,	,		19376	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											300.0	243.0	262.0					15																	73585755		2198	4297	6495	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3767A>G	15.37:g.73585755A>G	ENSP00000341198:p.His1256Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.697087	0.68386	.	.	ENSG00000067141	ENST00000379842;ENST00000261908	T	0.46451	0.87	5.65	5.65	0.86999	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.63428	1.95	0.80722	D	1	P;P;D	0.63880	0.947;0.947;0.993	P;P;D	0.67900	0.893;0.893;0.954	T	0.53809	-0.8386	10	0.20519	T	0.43	-14.4154	16.1778	0.81874	1.0:0.0:0.0:0.0	.	1245;967;1256	B7ZKN0;E7EUX3;Q92859	.;.;NEO1_HUMAN	R	967;1256	ENSP00000261908:H1256R	ENSP00000261908:H1256R	H	+	2	0	NEO1	71372808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.279000	0.76181	0.533000	0.62120	CAT		0.502	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2		NM_002499	
NFE2L1	4779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46134732	46134732	+	Silent	SNP	A	A	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr17:46134732A>T	ENST00000362042.3	+	5	1456	c.840A>T	c.(838-840)acA>acT	p.T280T	NFE2L1_ENST00000583378.1_Silent_p.T81T|NFE2L1_ENST00000536222.1_Silent_p.T124T|NFE2L1_ENST00000582155.1_Silent_p.T92T|NFE2L1_ENST00000357480.5_Silent_p.T250T|NFE2L1_ENST00000585291.1_Silent_p.T250T|NFE2L1_ENST00000361665.3_Silent_p.T269T	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	280	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.T280T(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAGCATAACAGAAGCAGTGC	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											171.0	158.0	162.0					17																	46134732		2203	4300	6503	SO:0001819	synonymous_variant	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.840A>T	17.37:g.46134732A>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	CCDS11524.1																																																																																				0.488	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1		NM_003204	
NPHP4	261734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	5934954	5934954	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:5934954C>A	ENST00000378156.4	-	21	3289	c.3024G>T	c.(3022-3024)gaG>gaT	p.E1008D	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1008					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.E1008D(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTGTCGATCTCCACAGTCA	0.632																																																	1	Substitution - Missense(1)	kidney(1)											76.0	90.0	85.0					1																	5934954		2087	4218	6305	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3024G>T	1.37:g.5934954C>A	ENSP00000367398:p.Glu1008Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.979690	0.34942	.	.	ENSG00000131697	ENST00000378156	D	0.84800	-1.9	4.95	4.03	0.46877	.	0.158127	0.42682	D	0.000666	T	0.79667	0.4485	L	0.45581	1.43	0.42647	D	0.993431	B	0.12630	0.006	B	0.12837	0.008	T	0.76239	-0.3032	10	0.38643	T	0.18	.	11.815	0.52204	0.0:0.9153:0.0:0.0846	.	1008	O75161	NPHP4_HUMAN	D	1008	ENSP00000367398:E1008D	ENSP00000367398:E1008D	E	-	3	2	NPHP4	5857541	1.000000	0.71417	0.952000	0.39060	0.381000	0.30169	2.045000	0.41250	2.306000	0.77630	0.550000	0.68814	GAG		0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			
NUP37	79023	hgsc.bcm.edu;ucsc.edu	37	12	102506003	102506011	+	Splice_Site	DEL	TCTTCTTCC	TCTTCTTCC	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	TCTTCTTCC	TCTTCTTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:102506003_102506011delTCTTCTTCC	ENST00000552283.1	-	3	296_303	c.157_164delGGAAGAAGA	c.(157-165)ggaagaaga>a	p.GRR53del	NUP37_ENST00000251074.1_Splice_Site_p.GRR53del|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	53					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						AACGTCTGCTTCTTCTTCCTAAGCATACA	0.349																																																	0																																										SO:0001630	splice_region_variant	79023			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.157-1GGAAGAAGA>-	12.37:g.102506003_102506011delTCTTCTTCC		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H644	In_Frame_Del	DEL	ENST00000552283.1	37	CCDS9089.1																																																																																				0.349	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1		NM_024057	In_Frame_Del
NXPH4	11247	hgsc.bcm.edu	37	12	57619187	57619188	+	In_Frame_Ins	INS	-	-	GGC	rs200994523	byFrequency	TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:57619187_57619188insGGC	ENST00000349394.5	+	2	759_760	c.584_585insGGC	c.(583-588)atggca>atGGCggca	p.200_201insA	NXPH4_ENST00000555154.1_3'UTR|Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	200	IV (linker domain).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						CCGCTGGGGATGGCAGCAGCAG	0.752														224	0.0447284	0.1536	0.0303	5008	,	,		9599	0.0		0.0	False		,,,				2504	0.0																0										513,3443		84,345,1549						4.0	0.9			18	13,7857		2,9,3924	no	coding	NXPH4	NM_007224.3		86,354,5473	A1A1,A1R,RR		0.1652,12.9676,4.4478				526,11300				SO:0001652	inframe_insertion	11247			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.585_587dupGGC	12.37:g.57619188_57619190dupGGC	ENSP00000333593:p.Ala200_Ala200dup	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4I4|Q7Z6L3|Q8N462	In_Frame_Ins	INS	ENST00000349394.5	37	CCDS8933.1																																																																																				0.752	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1		NM_007224	
OR10H4	126541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	16059970	16059970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:16059970G>A	ENST00000322107.1	+	1	153	c.153G>A	c.(151-153)tgG>tgA	p.W51*		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W51*(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCACAATCTGGATTGAACACA	0.542																																																	1	Substitution - Nonsense(1)	kidney(1)											362.0	333.0	343.0					19																	16059970		2203	4300	6503	SO:0001587	stop_gained	126541			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.153G>A	19.37:g.16059970G>A	ENSP00000318834:p.Trp51*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFJ2|Q96R57	Nonsense_Mutation	SNP	ENST00000322107.1	37	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	g	5.259	0.233229	0.09969	.	.	ENSG00000176231	ENST00000322107	.	.	.	1.53	0.441	0.16577	.	0.444758	0.16799	U	0.199069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	3.2891	0.06943	0.4764:0.0:0.5236:0.0	.	.	.	.	X	51	.	ENSP00000318834:W51X	W	+	3	0	OR10H4	15920970	0.000000	0.05858	0.022000	0.16811	0.038000	0.13279	-0.969000	0.03813	0.828000	0.34709	0.471000	0.43371	TGG		0.542	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			
OR13C5	138799	hgsc.bcm.edu	37	9	107361451	107361452	+	Frame_Shift_Del	DEL	GC	GC	-	rs376107801|rs201540433|rs377523807|rs199665292	byFrequency	TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr9:107361451_107361452delGC	ENST00000374779.2	-	1	336_337	c.243_244delGC	c.(241-246)acgctafs	p.L82fs		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAGCTCACTAGCGTGGAGGGAA	0.51																																																	0																																										SO:0001589	frameshift_variant	138799				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.243_244delGC	9.37:g.107361451_107361452delGC	ENSP00000363911:p.Leu82fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNE5|B9EGW5|Q6IF53	Frame_Shift_Del	DEL	ENST00000374779.2	37	CCDS35091.1																																																																																				0.510	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2		NM_001004482	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52610584	52610584	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr3:52610584delC	ENST00000296302.7	-	22	3665	c.3664delG	c.(3664-3666)gaafs	p.E1222fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.E1190fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E1237fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E1237fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E1197fs			Q86U86	PB1_HUMAN	polybromo 1	1222	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGGCAGGTTTCTTCCAGATTA	0.373			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													137.0	132.0	134.0					3																	52610584		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3664delG	3.37:g.52610584delC	ENSP00000296302:p.Glu1222fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDH10	57575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	134071550	134071550	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr4:134071550C>A	ENST00000264360.5	+	1	1081	c.255C>A	c.(253-255)tgC>tgA	p.C85*	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C85*(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACAAATCTGCAAACAGAGCC	0.542																																																	1	Substitution - Nonsense(1)	kidney(1)											64.0	71.0	68.0					4																	134071550		2203	4300	6503	SO:0001587	stop_gained	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.255C>A	4.37:g.134071550C>A	ENSP00000264360:p.Cys85*	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5F6|Q96SF0	Nonsense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	42	9.271604	0.99120	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	4.66	1.87	0.25490	.	0.000000	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.106	0.42533	0.0:0.7667:0.0:0.2333	.	.	.	.	X	85	.	ENSP00000264360:C85X	C	+	3	2	PCDH10	134291000	0.998000	0.40836	1.000000	0.80357	0.647000	0.38526	0.842000	0.27627	0.545000	0.28902	0.555000	0.69702	TGC		0.542	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961	
PDZD3	79849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119059108	119059108	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr11:119059108G>A	ENST00000531114.1	+	6	1654	c.1105G>A	c.(1105-1107)Gct>Act	p.A369T	PDZD3_ENST00000355547.5_Missense_Mutation_p.A303T|PDZD3_ENST00000322712.4_Missense_Mutation_p.A289T|PDZD3_ENST00000525131.1_Missense_Mutation_p.A290T|PDZD3_ENST00000392817.2_Missense_Mutation_p.A369T			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	369	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)	p.A289T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		AGCCAAGAAGGCTGGGATGCA	0.647																																																	1	Substitution - Missense(1)	kidney(1)											49.0	52.0	51.0					11																	119059108		2200	4295	6495	SO:0001583	missense	79849			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1105G>A	11.37:g.119059108G>A	ENSP00000431164:p.Ala369Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.614811	0.96649	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.5	5.5	0.81552	PDZ/DHR/GLGF (4);	0.125318	0.52532	D	0.000077	T	0.63355	0.2504	M	0.88181	2.935	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.998	T	0.64253	-0.6451	10	0.32370	T	0.25	-20.4332	19.3867	0.94560	0.0:0.0:1.0:0.0	.	290;369;303;289	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	T	290;369;303;289;303;369	ENSP00000434559:A290T;ENSP00000431164:A369T;ENSP00000347742:A303T;ENSP00000327107:A289T;ENSP00000376564:A369T	ENSP00000327107:A289T	A	+	1	0	PDZD3	118564318	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	5.473000	0.66774	2.605000	0.88082	0.609000	0.83330	GCT		0.647	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1		NM_024791	
PIWIL2	55124	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	22138976	22138976	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr8:22138976G>C	ENST00000454009.2	+	4	882	c.373G>C	c.(373-375)Gtg>Ctg	p.V125L	PIWIL2_ENST00000521356.1_Missense_Mutation_p.V125L|PIWIL2_ENST00000356766.6_Missense_Mutation_p.V125L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	125					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.V125L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GGATCCAAAAGTGTTGGCGGC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											115.0	119.0	117.0					8																	22138976		2203	4300	6503	SO:0001583	missense	55124			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.373G>C	8.37:g.22138976G>C	ENSP00000406956:p.Val125Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	9.018	0.984162	0.18889	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04317	3.65;3.65;3.65	5.55	2.74	0.32292	.	0.547331	0.17027	N	0.189888	T	0.03434	0.0099	N	0.24115	0.695	0.09310	N	1	B;B	0.17038	0.02;0.02	B;B	0.15870	0.014;0.014	T	0.45991	-0.9223	10	0.23891	T	0.37	.	7.4586	0.27280	0.0778:0.0:0.6261:0.2961	.	125;125	E7ECA4;Q8TC59	.;PIWL2_HUMAN	L	125	ENSP00000349208:V125L;ENSP00000428267:V125L;ENSP00000406956:V125L	ENSP00000349208:V125L	V	+	1	0	PIWIL2	22194921	0.015000	0.18098	0.029000	0.17559	0.403000	0.30841	1.411000	0.34702	0.287000	0.22375	0.561000	0.74099	GTG		0.483	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			
PPIL4	85313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	149833352	149833352	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:149833352G>C	ENST00000253329.2	-	12	1198	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S	PPIL4_ENST00000340881.2_Missense_Mutation_p.P22A	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	389				T -> A (in Ref. 3; CAD97776). {ECO:0000305}.	protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.T389S(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ACAGTGATGGGTTTTCTTCTT	0.363																																																	1	Substitution - Missense(1)	kidney(1)											243.0	228.0	233.0					6																	149833352		2203	4300	6503	SO:0001583	missense	85313				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1166C>G	6.37:g.149833352G>C	ENSP00000253329:p.Thr389Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	CCDS34550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.69|12.69	2.013441|2.013441	0.35511|0.35511	.|.	.|.	ENSG00000131013|ENSG00000131013	ENST00000340881|ENST00000253329	.|T	.|0.11712	.|2.75	6.05|6.05	4.18|4.18	0.49190|0.49190	.|.	.|0.235189	.|0.48286	.|D	.|0.000194	T|T	0.01387|0.01387	0.0045|0.0045	N|N	0.14661|0.14661	0.345|0.345	0.26245|0.26245	N|N	0.978808|0.978808	.|B	.|0.26002	.|0.139	.|B	.|0.17433	.|0.018	T|T	0.44802|0.44802	-0.9304|-0.9304	6|10	0.87932|0.08179	D|T	0|0.78	.|.	7.5296|7.5296	0.27674|0.27674	0.0813:0.0:0.6738:0.2449|0.0813:0.0:0.6738:0.2449	.|.	.|389	.|Q8WUA2	.|PPIL4_HUMAN	A|S	22|389	.|ENSP00000253329:T389S	ENSP00000344128:P22A|ENSP00000253329:T389S	P|T	-|-	1|2	0|0	PPIL4|PPIL4	149875045|149875045	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.992000|0.992000	0.81027|0.81027	3.535000|3.535000	0.53575|0.53575	1.573000|1.573000	0.49748|0.49748	0.643000|0.643000	0.83706|0.83706	CCC|ACC		0.363	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			
PRKACB	5567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	84670172	84670172	+	Intron	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:84670172G>C	ENST00000370689.2	+	8	1029				PRKACB_ENST00000370688.3_Nonstop_Mutation_p.*258S|PRKACB_ENST00000370682.3_Intron|PRKACB_ENST00000370680.1_Nonstop_Mutation_p.*265S|PRKACB_ENST00000394838.2_Intron|PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000370685.3_Intron	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)	p.*258S(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CAGAACTTTTGATATGAACAA	0.328																																																	1	Nonstop extension(1)	kidney(1)											109.0	111.0	111.0					1																	84670172		2203	4297	6500	SO:0001627	intron_variant	5567			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.765+1684G>C	1.37:g.84670172G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	8.795	0.931431	0.18131	.	.	ENSG00000142875	ENST00000370688;ENST00000370684;ENST00000370680	.	.	.	4.04	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7283	0.08482	0.1659:0.0:0.6082:0.2259	.	.	.	.	S	258;246;265	.	.	X	+	2	2	PRKACB	84442760	0.047000	0.20315	0.007000	0.13788	0.219000	0.24729	1.177000	0.31969	0.271000	0.22005	-0.175000	0.13238	TGA		0.328	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1		NM_182948	
PRRT1	80863	broad.mit.edu;hgsc.bcm.edu	37	6	32117130	32117130	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:32117130C>T	ENST00000211413.5	-	4	914	c.790G>A	c.(790-792)Gct>Act	p.A264T	PRRT1_ENST00000375152.2_Missense_Mutation_p.A183T|PRRT1_ENST00000375150.2_Missense_Mutation_p.A183T|PRRT1_ENST00000467780.1_5'UTR	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	264					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A264T(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TCGCGTGAAGCGATCTCGGCC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											33.0	29.0	30.0					6																	32117130		1507	2707	4214	SO:0001583	missense	80863			AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.790G>A	6.37:g.32117130C>T	ENSP00000211413:p.Ala264Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP	ENST00000211413.5	37	CCDS4739.1	.	.	.	.	.	.	.	.	.	.	c	35	5.507660	0.96386	.	.	ENSG00000204314	ENST00000211413;ENST00000375150;ENST00000375152	D;D;D	0.87729	-2.29;-2.29;-2.29	4.99	4.99	0.66335	.	.	.	.	.	D	0.91297	0.7256	M	0.72479	2.2	0.54753	D	0.999987	D;D	0.76494	0.999;0.967	D;P	0.80764	0.994;0.801	D	0.91328	0.5087	9	0.49607	T	0.09	-5.5816	15.7852	0.78297	0.0:1.0:0.0:0.0	.	264;183	Q99946;Q99946-2	PRRT1_HUMAN;.	T	264;183;183	ENSP00000211413:A264T;ENSP00000364292:A183T;ENSP00000364294:A183T	ENSP00000211413:A264T	A	-	1	0	PRRT1	32225108	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	6.713000	0.74686	2.332000	0.79248	0.645000	0.84053	GCT		0.652	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2		NM_030651	
PRPH2	5961	broad.mit.edu;ucsc.edu	37	6	42666085	42666085	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:42666085T>C	ENST00000230381.5	-	3	1228	c.989A>G	c.(988-990)aAc>aGc	p.N330S		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	330					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.N330S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TTCCACCTGGTTGCCCTTGCC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											51.0	54.0	53.0					6																	42666085		2203	4300	6503	SO:0001583	missense	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.989A>G	6.37:g.42666085T>C	ENSP00000230381:p.Asn330Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.570206	0.45798	.	.	ENSG00000112619	ENST00000230381	T	0.02974	4.09	5.44	4.07	0.47477	.	0.349704	0.35708	N	0.003028	T	0.01592	0.0051	L	0.46670	1.46	0.44834	D	0.997847	B	0.19445	0.036	B	0.12156	0.007	T	0.41980	-0.9478	10	0.51188	T	0.08	.	11.8558	0.52437	0.0:0.08:0.0:0.92	.	330	P23942	PRPH2_HUMAN	S	330	ENSP00000230381:N330S	ENSP00000230381:N330S	N	-	2	0	PRPH2	42774063	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.685000	0.46959	2.062000	0.61559	0.533000	0.62120	AAC		0.657	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1		NM_000322	
PTPRC	5788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	198678874	198678874	+	Missense_Mutation	SNP	G	G	C	rs139425744		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:198678874G>C	ENST00000367376.2	+	11	1257	c.1086G>C	c.(1084-1086)gaG>gaC	p.E362D	PTPRC_ENST00000594404.1_Missense_Mutation_p.E201D|PTPRC_ENST00000352140.3_Missense_Mutation_p.E314D|PTPRC_ENST00000442510.2_Missense_Mutation_p.E364D|PTPRC_ENST00000348564.6_Missense_Mutation_p.E203D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	362			Missing (in T(-)B(+)NK(+) SCID; associated with lack of surface expression). {ECO:0000269|PubMed:11145714}.		axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E362D(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCGAACATGAGTATAAGTGTG	0.269																																																	1	Substitution - Missense(1)	kidney(1)											61.0	73.0	69.0					1																	198678874		2197	4270	6467	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1086G>C	1.37:g.198678874G>C	ENSP00000356346:p.Glu362Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	G	3.651	-0.071528	0.07228	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T;T;T;T;T	0.11169	4.2;2.8;4.3;3.82;4.27	4.48	-8.97	0.00758	.	1.183310	0.06228	N	0.688049	T	0.03520	0.0101	N	0.11427	0.14	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.002;0.001;0.001;0.001	B;B;B;B;B	0.13407	0.009;0.004;0.001;0.002;0.001	T	0.37526	-0.9702	10	0.18276	T	0.48	.	0.8998	0.01271	0.3079:0.3078:0.2136:0.1706	.	298;298;203;314;362	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	D	364;298;314;314;248;362;296;201	ENSP00000193532:E314D;ENSP00000433536:E248D;ENSP00000411355:E362D;ENSP00000356337:E296D;ENSP00000306782:E201D	ENSP00000306782:E201D	E	+	3	2	PTPRC	196945497	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.170000	0.03118	-2.781000	0.00360	-2.475000	0.00201	GAG		0.269	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				
PTPRC	5788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	198678876	198678876	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:198678876A>T	ENST00000367376.2	+	11	1259	c.1088A>T	c.(1087-1089)tAt>tTt	p.Y363F	PTPRC_ENST00000594404.1_Missense_Mutation_p.Y202F|PTPRC_ENST00000352140.3_Missense_Mutation_p.Y315F|PTPRC_ENST00000442510.2_Missense_Mutation_p.Y365F|PTPRC_ENST00000348564.6_Missense_Mutation_p.Y204F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	363			Missing (in T(-)B(+)NK(+) SCID; associated with lack of surface expression). {ECO:0000269|PubMed:11145714}.		axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Y363F(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAACATGAGTATAAGTGTGAC	0.269																																																	1	Substitution - Missense(1)	kidney(1)											63.0	74.0	70.0					1																	198678876		2197	4272	6469	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1088A>T	1.37:g.198678876A>T	ENSP00000356346:p.Tyr363Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	A	16.21	3.058696	0.55325	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.10005	2.92	4.48	4.48	0.54585	.	0.000000	0.41605	D	0.000845	T	0.28566	0.0707	M	0.65975	2.015	0.09310	N	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.989;0.998;0.989	T	0.03043	-1.1079	10	0.87932	D	0	.	10.347	0.43911	1.0:0.0:0.0:0.0	.	299;299;204;315;363	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	F	365;299;315;315;249;363;297;202	ENSP00000193532:Y315F	ENSP00000306782:Y202F	Y	+	2	0	PTPRC	196945499	0.165000	0.22948	0.025000	0.17156	0.002000	0.02628	2.368000	0.44222	2.001000	0.58596	0.482000	0.46254	TAT		0.269	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				
RIMBP2	23504	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	130935856	130935856	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:130935856C>T	ENST00000261655.4	-	5	500	c.337G>A	c.(337-339)Gcg>Acg	p.A113T	RIMBP2_ENST00000536002.1_Missense_Mutation_p.A21T|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A21T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	113					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A113T(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCACCGATCGCAGAGCTGCCT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											49.0	47.0	48.0					12																	130935856		2203	4300	6503	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.337G>A	12.37:g.130935856C>T	ENSP00000261655:p.Ala113Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	7.803	0.714049	0.15306	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.19669	2.13;2.96;2.96	3.95	3.95	0.45737	.	0.694331	0.12931	N	0.427382	T	0.14960	0.0361	L	0.29908	0.895	0.20403	N	0.999901	B;B	0.27679	0.185;0.094	B;B	0.20767	0.031;0.01	T	0.13442	-1.0509	10	0.11182	T	0.66	-4.6275	14.1942	0.65659	0.0:1.0:0.0:0.0	.	21;113	O15034-2;O15034	.;RIMB2_HUMAN	T	113;21;21;21	ENSP00000261655:A113T;ENSP00000440347:A21T;ENSP00000439159:A21T	ENSP00000261655:A113T	A	-	1	0	RIMBP2	129501809	0.998000	0.40836	0.011000	0.14972	0.006000	0.05464	2.903000	0.48711	1.756000	0.51951	0.561000	0.74099	GCG		0.552	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1		NM_015347	
SF3B1	23451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	198266611	198266611	+	Splice_Site	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:198266611C>T	ENST00000335508.6	-	16	2316	c.2225G>A	c.(2224-2226)gGt>gAt	p.G742D	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	742					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.G742D(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGCAGCCAAACCCtattttta	0.303			Mis		myelodysplastic syndrome																																			Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)											52.0	56.0	55.0					2																	198266611		2192	4291	6483	SO:0001630	splice_region_variant	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2224-1G>A	2.37:g.198266611C>T		Somatic		WXS	Illumina HiSeq	Phase_I	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818435	0.71028	.	.	ENSG00000115524	ENST00000335508	T	0.64991	-0.13	5.71	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	M	0.93241	3.395	0.80722	D	1	D	0.54397	0.966	P	0.61070	0.883	D	0.86070	0.1537	10	0.51188	T	0.08	.	14.7251	0.69339	0.0:0.9305:0.0:0.0695	.	742	O75533	SF3B1_HUMAN	D	742	ENSP00000335321:G742D	ENSP00000335321:G742D	G	-	2	0	SF3B1	197974856	1.000000	0.71417	0.998000	0.56505	0.710000	0.40934	7.760000	0.85248	1.415000	0.47037	-0.140000	0.14226	GGT		0.303	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			Missense_Mutation
SHKBP1	92799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41094601	41094601	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:41094601G>A	ENST00000291842.5	+	14	1457	c.1408G>A	c.(1408-1410)Ggc>Agc	p.G470S	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G445S|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	470					protein homooligomerization (GO:0051260)			p.G470S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCCAGCCCGGCTCCACCCC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											121.0	112.0	115.0					19																	41094601		2203	4300	6503	SO:0001583	missense	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1408G>A	19.37:g.41094601G>A	ENSP00000291842:p.Gly470Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535411	0.85812	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.62639	0.01	4.21	3.17	0.36434	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	M	0.78916	2.43	0.80722	D	1	D;D;D;P;D;D	0.89917	1.0;1.0;1.0;0.868;1.0;0.957	D;D;D;B;D;B	0.97110	0.986;1.0;0.999;0.354;0.999;0.308	T	0.78505	-0.2178	10	0.66056	D	0.02	-2.7325	11.1437	0.48417	0.0927:0.0:0.9073:0.0	.	348;250;393;307;470;470	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	S	470;250	ENSP00000291842:G470S	ENSP00000291842:G470S	G	+	1	0	SHKBP1	45786441	1.000000	0.71417	0.762000	0.31397	0.861000	0.49209	9.141000	0.94612	0.989000	0.38761	0.462000	0.41574	GGC		0.602	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2		NM_138392	
SIK1	150094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	44840177	44840177	+	Silent	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr21:44840177G>A	ENST00000270162.6	-	8	1041	c.909C>T	c.(907-909)gaC>gaT	p.D303D		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	303	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.D303D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GCTCATCGTAGTCGCCCAGGT	0.692																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	49.0	50.0					21																	44840177		2203	4300	6503	SO:0001819	synonymous_variant	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.909C>T	21.37:g.44840177G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	CCDS33575.1																																																																																				0.692	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1		NM_173354	
SLC4A10	57282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	162661045	162661046	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:162661045_162661046delAG	ENST00000446997.1	+	3	310_311	c.217_218delAG	c.(217-219)agafs	p.R73fs	SLC4A10_ENST00000535165.1_Frame_Shift_Del_p.R73fs|SLC4A10_ENST00000375514.5_Frame_Shift_Del_p.R84fs|SLC4A10_ENST00000421911.1_Frame_Shift_Del_p.R73fs|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Frame_Shift_Del_p.R73fs|SLC4A10_ENST00000272716.5_Frame_Shift_Del_p.R73fs	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	73					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCATAAACACAGAAAGAGAGAC	0.406																																																	0																																										SO:0001589	frameshift_variant	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.217_218delAG	2.37:g.162661045_162661046delAG	ENSP00000393066:p.Arg73fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Frame_Shift_Del	DEL	ENST00000446997.1	37	CCDS54411.1																																																																																				0.406	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1		NM_022058	
SLITRK6	84189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	86370082	86370082	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr13:86370082G>T	ENST00000400286.2	-	2	1160	c.562C>A	c.(562-564)Cta>Ata	p.L188I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	188					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.L188I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CGAAGATCTAGATGGGTTAAA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											120.0	110.0	113.0					13																	86370082		1858	4086	5944	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.562C>A	13.37:g.86370082G>T	ENSP00000383143:p.Leu188Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720084	0.48728	.	.	ENSG00000184564	ENST00000400286	T	0.80566	-1.39	6.17	2.56	0.30785	.	0.000000	0.64402	D	0.000002	D	0.86694	0.5994	M	0.75447	2.3	0.44635	D	0.99761	D	0.89917	1.0	D	0.87578	0.998	D	0.84859	0.0818	10	0.72032	D	0.01	-12.6229	7.2865	0.26342	0.4536:0.0:0.5464:0.0	.	188	Q9H5Y7	SLIK6_HUMAN	I	188	ENSP00000383143:L188I	ENSP00000383143:L188I	L	-	1	2	SLITRK6	85268083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.249000	0.32839	0.487000	0.27698	0.655000	0.94253	CTA		0.388	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2		NM_032229	
STAG1	10274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	136240212	136240212	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr3:136240212delT	ENST00000383202.2	-	7	775	c.519delA	c.(517-519)aaafs	p.K173fs	STAG1_ENST00000236698.5_Frame_Shift_Del_p.K173fs|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Frame_Shift_Del_p.K173fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	173					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTGAACGAAATTTTTTCCACT	0.348																																																	0													82.0	83.0	83.0					3																	136240212		2203	4300	6503	SO:0001589	frameshift_variant	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.519delA	3.37:g.136240212delT	ENSP00000372689:p.Lys173fs	Somatic		WXS	Illumina HiSeq	Phase_I	O00539|Q6P275	Frame_Shift_Del	DEL	ENST00000383202.2	37	CCDS3090.1																																																																																				0.348	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1		NM_005862	
STAT2	6773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56745117	56745117	+	Silent	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:56745117G>A	ENST00000314128.4	-	9	923	c.900C>T	c.(898-900)cgC>cgT	p.R300R	STAT2_ENST00000556539.1_5'Flank|STAT2_ENST00000557235.1_Silent_p.R296R|STAT2_ENST00000418572.2_Silent_p.R296R|RNU7-40P_ENST00000516397.1_RNA			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	300					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R300R(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCTGGGCGTTGCGTAGGTCCA	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											227.0	204.0	212.0					12																	56745117		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.900C>T	12.37:g.56745117G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	ENST00000314128.4	37	CCDS8917.1																																																																																				0.557	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1		NM_005419	
STK32B	55351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	5461876	5461876	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr4:5461876T>C	ENST00000282908.5	+	9	1252	c.830T>C	c.(829-831)aTa>aCa	p.I277T	STK32B_ENST00000512636.1_Missense_Mutation_p.I200T|STK32B_ENST00000510398.1_Missense_Mutation_p.I230T|STK32B_ENST00000508728.1_3'UTR|RN7SKP275_ENST00000364626.1_RNA	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.I277T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CTTCATGACATACAGAGCGTG	0.552											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											135.0	111.0	119.0					4																	5461876		2203	4300	6503	SO:0001583	missense	55351			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.830T>C	4.37:g.5461876T>C	ENSP00000282908:p.Ile277Thr	Somatic	626	WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000282908.5	37	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	t	14.83	2.653885	0.47362	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.69306	-0.39;-0.39;-0.39	4.65	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.648445	0.12303	U	0.480914	T	0.70842	0.3270	M	0.79805	2.47	0.21652	N	0.999601	B	0.29671	0.254	B	0.32289	0.143	T	0.66488	-0.5911	10	0.87932	D	0	.	13.2364	0.59971	0.0:0.0:0.0:1.0	.	277	Q9NY57	ST32B_HUMAN	T	277;200;230	ENSP00000282908:I277T;ENSP00000423209:I200T;ENSP00000420984:I230T	ENSP00000282908:I277T	I	+	2	0	STK32B	5512777	0.902000	0.30710	0.004000	0.12327	0.236000	0.25371	6.880000	0.75578	1.870000	0.54199	0.449000	0.29647	ATA		0.552	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4		NM_018401	
SUSD4	55061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223408420	223408420	+	Intron	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:223408420G>A	ENST00000343846.3	-	5	1358				SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000344029.6_Silent_p.F249F			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)		p.F249F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAAGGACAGGGAAAAGATGTT	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	81.0	83.0					1																	223408420		2203	4300	6503	SO:0001627	intron_variant	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.725-5690C>T	1.37:g.223408420G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	CCDS41471.1																																																																																				0.398	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2		NM_017982	
TANC1	85461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160042345	160042345	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:160042345G>C	ENST00000263635.6	+	15	2791	c.2554G>C	c.(2554-2556)Ggc>Cgc	p.G852R	TANC1_ENST00000454300.1_Missense_Mutation_p.G746R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	852					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.G852R(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCGTCAGGAGGGCAAGTTGAA	0.552											OREG0015033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											79.0	80.0	80.0					2																	160042345		2100	4211	6311	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2554G>C	2.37:g.160042345G>C	ENSP00000263635:p.Gly852Arg	Somatic	1806	WXS	Illumina HiSeq	Phase_I	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540203	0.65085	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.69806	-0.41;-0.43	6.1	4.29	0.51040	.	0.200599	0.53938	D	0.000055	T	0.73426	0.3585	M	0.73598	2.24	0.58432	D	0.999999	P;P;B	0.42973	0.693;0.796;0.068	B;P;B	0.49637	0.413;0.617;0.059	T	0.73726	-0.3892	10	0.49607	T	0.09	.	12.1277	0.53926	0.1392:0.0:0.8608:0.0	.	844;746;852	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	R	746;852	ENSP00000396339:G746R;ENSP00000263635:G852R	ENSP00000263635:G852R	G	+	1	0	TANC1	159750591	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.792000	0.69052	0.886000	0.36113	0.650000	0.86243	GGC		0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			
TMEM132D	121256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	129558540	129558540	+	Silent	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:129558540G>T	ENST00000422113.2	-	9	3506	c.3180C>A	c.(3178-3180)ccC>ccA	p.P1060P	TMEM132D_ENST00000389441.4_Silent_p.P598P	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1060					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P1060P(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTTCCTGGTGGGGTACTCGT	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											155.0	151.0	153.0					12																	129558540		2203	4300	6503	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3180C>A	12.37:g.129558540G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																				0.517	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1		NM_133448	
TMEM169	92691	hgsc.bcm.edu;ucsc.edu	37	2	216960807	216960807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:216960807delA	ENST00000295658.4	+	2	328	c.121delA	c.(121-123)aaafs	p.K43fs	TMEM169_ENST00000406027.2_Frame_Shift_Del_p.K43fs|TMEM169_ENST00000437356.2_Frame_Shift_Del_p.K43fs|TMEM169_ENST00000454545.1_Frame_Shift_Del_p.K43fs	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	43						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCACAGGAAAAAGAAGAG	0.557																																																	0													69.0	70.0	70.0					2																	216960807		2203	4300	6503	SO:0001589	frameshift_variant	92691			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.121delA	2.37:g.216960807delA	ENSP00000295658:p.Lys43fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8W6	Frame_Shift_Del	DEL	ENST00000295658.4	37	CCDS2401.1																																																																																				0.557	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2		NM_138390	
TMEM63B	55362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44107217	44107217	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:44107217C>T	ENST00000259746.9	+	7	604	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Missense_Mutation_p.R141W			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	141					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.R141W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGATGAGATCCGGGACAAATG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											115.0	100.0	105.0					6																	44107217		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.421C>T	6.37:g.44107217C>T	ENSP00000259746:p.Arg141Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705917	0.30232	.	.	ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267	T;T;T	0.42131	0.98;0.98;0.98	4.53	3.56	0.40772	.	0.067218	0.56097	D	0.000021	T	0.34193	0.0889	L	0.53249	1.67	0.35526	D	0.801822	P;D;D	0.71674	0.92;0.989;0.998	B;P;P	0.53861	0.443;0.67;0.736	T	0.13953	-1.0490	10	0.38643	T	0.18	.	8.3299	0.32180	0.0:0.809:0.0:0.191	.	141;141;141	Q5T3F8-3;Q5T3F8;Q5T3F8-2	.;TM63B_HUMAN;.	W	141	ENSP00000259746:R141W;ENSP00000437163:R141W;ENSP00000327154:R141W	ENSP00000259746:R141W	R	+	1	2	TMEM63B	44215195	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	1.760000	0.38430	2.356000	0.79943	0.561000	0.74099	CGG		0.597	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2		XM_166410	
TMIGD1	388364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	28659092	28659092	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr17:28659092T>G	ENST00000328886.4	-	2	132	c.60A>C	c.(58-60)ttA>ttC	p.L20F	TMIGD1_ENST00000538566.2_Missense_Mutation_p.L20F	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	20						integral component of membrane (GO:0016021)		p.L20F(1)		breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GTGGCAGAAATAAAATTACTA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											87.0	83.0	84.0					17																	28659092		2202	4300	6502	SO:0001583	missense	388364			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.60A>C	17.37:g.28659092T>G	ENSP00000332404:p.Leu20Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2K1|Q6ZMC6	Missense_Mutation	SNP	ENST00000328886.4	37	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325708	0.41197	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.66638	-0.22;-0.14	6.01	-0.686	0.11324	.	0.703612	0.13574	N	0.377879	T	0.49932	0.1586	L	0.59436	1.845	0.32486	N	0.540869	B;B	0.22683	0.073;0.034	B;B	0.25884	0.064;0.019	T	0.43261	-0.9402	10	0.08599	T	0.76	0.0504	0.4799	0.00546	0.27:0.1622:0.1398:0.428	.	20;20	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	F	20	ENSP00000332404:L20F;ENSP00000446118:L20F	ENSP00000332404:L20F	L	-	3	2	TMIGD1	25683218	0.872000	0.30054	0.791000	0.31998	0.874000	0.50279	-0.316000	0.08071	-0.427000	0.07350	-0.353000	0.07706	TTA		0.333	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1		NM_206832	
TRPA1	8989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	72975792	72975792	+	Silent	SNP	A	A	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr8:72975792A>C	ENST00000262209.4	-	5	774	c.567T>G	c.(565-567)gcT>gcG	p.A189A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	189					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.A189A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TACATGGCTTAGCTCCTTTTT	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	86.0	87.0					8																	72975792		2203	4300	6503	SO:0001819	synonymous_variant	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.567T>G	8.37:g.72975792A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																				0.383	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2		NM_007332	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179404241	179404241	+	Nonsense_Mutation	SNP	G	G	A	rs553821887		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:179404241G>A	ENST00000591111.1	-	302	93852	c.93628C>T	c.(93628-93630)Cga>Tga	p.R31210*	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R32851*|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R23978*|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R30283*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R23911*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R23786*|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31210	Fibronectin type-III 127. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R23786*(1)|p.R23911*(1)|p.R30281*(1)|p.R30283*(1)|p.R23978*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTACCTCGGACTCTGGAA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		22308	0.0		0.0	False		,,,				2504	0.001																5	Substitution - Nonsense(5)	kidney(5)											177.0	161.0	166.0					2																	179404241		1932	4136	6068	SO:0001587	stop_gained	7273			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.93628C>T	2.37:g.179404241G>A	ENSP00000465570:p.Arg31210*	Somatic		WXS	Illumina HiSeq	Phase_I	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	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	69	107.737810	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.79	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.188	0.54250	0.0:0.0:0.4231:0.5769	.	.	.	.	X	30283;23786;23978;23911;23783	.	ENSP00000340554:R23978X	R	-	1	2	TTN	179112487	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	4.557000	0.60782	1.402000	0.46780	0.655000	0.94253	CGA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179476554	179476554	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:179476554C>A	ENST00000591111.1	-	218	45783	c.45559G>T	c.(45559-45561)Gct>Tct	p.A15187S	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A16828S|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7955S|TTN_ENST00000342992.6_Missense_Mutation_p.A14260S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7888S|TTN_ENST00000460472.2_Missense_Mutation_p.A7763S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15187	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A14260S(2)|p.A7955S(1)|p.A7763S(1)|p.A7888S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATTTTCAGCCCGAACCTGA	0.458																																																	5	Substitution - Missense(5)	kidney(5)											134.0	128.0	130.0					2																	179476554		1927	4145	6072	SO:0001583	missense	7273			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.45559G>T	2.37:g.179476554C>A	ENSP00000465570:p.Ala15187Ser	Somatic		WXS	Illumina HiSeq	Phase_I	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	13.03	2.115438	0.37339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.97	5.06	0.68205	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80819	0.4696	M	0.88450	2.955	0.58432	D	0.999996	P;P;P;P	0.48503	0.911;0.911;0.911;0.911	P;P;P;P	0.53102	0.718;0.718;0.718;0.718	D	0.84565	0.0652	9	0.87932	D	0	.	16.5828	0.84718	0.131:0.869:0.0:0.0	.	7763;7888;7955;15187	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	14260;7763;7955;7888;7763	ENSP00000343764:A14260S;ENSP00000434586:A7763S;ENSP00000340554:A7955S;ENSP00000352154:A7888S	ENSP00000340554:A7955S	A	-	1	0	TTN	179184799	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.770000	0.85390	2.828000	0.97474	0.650000	0.86243	GCT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179485685	179485685	+	Missense_Mutation	SNP	G	G	A	rs371621174		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:179485685G>A	ENST00000591111.1	-	197	40953	c.40729C>T	c.(40729-40731)Cgg>Tgg	p.R13577W	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15218W|TTN_ENST00000342175.6_Missense_Mutation_p.R6345W|TTN_ENST00000342992.6_Missense_Mutation_p.R12650W|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6278W|TTN_ENST00000460472.2_Missense_Mutation_p.R6153W|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13577	Ig-like 92.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R12650W(2)|p.R6278W(1)|p.R6153W(1)|p.R6345W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTCACCCGGGTGTCCTTA	0.373																																																	5	Substitution - Missense(5)	kidney(5)						G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,3696		0,0,1848	74.0	69.0	70.0		18457,37948,18832,19033	4.9	0.9	2		70	1,8167		0,1,4083	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	101,101,101,101	0,1,5931	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	6153/26927,12650/33424,6278/27052,6345/27119	179485685	1,11863	1848	4084	5932	SO:0001583	missense	7273			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.40729C>T	2.37:g.179485685G>A	ENSP00000465570:p.Arg13577Trp	Somatic		WXS	Illumina HiSeq	Phase_I	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		.	.	.	.	.	.	.	.	.	.	G	11.10	1.538760	0.27475	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.83	4.93	0.64822	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	0.60907	0.2305	L	0.45352	1.415	0.26266	N	0.978494	D;D;D;D	0.61697	0.964;0.964;0.99;0.964	B;B;B;B	0.43360	0.417;0.417;0.417;0.417	T	0.57406	-0.7817	9	0.87932	D	0	.	11.4166	0.49956	0.0:0.1683:0.7075:0.1241	.	6153;6278;6345;13577	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	12650;6153;6345;6278;6153	ENSP00000343764:R12650W;ENSP00000434586:R6153W;ENSP00000340554:R6345W;ENSP00000352154:R6278W	ENSP00000340554:R6345W	R	-	1	2	TTN	179193930	1.000000	0.71417	0.944000	0.38274	0.998000	0.95712	3.777000	0.55364	1.405000	0.46838	0.655000	0.94253	CGG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBIAD1	29914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11345857	11345858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:11345857_11345858insC	ENST00000376810.5	+	2	1012_1013	c.686_687insC	c.(685-690)ctccatfs	p.H230fs	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	230					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GAGGCCATTCTCCATTCCAACA	0.609																																																	0																																										SO:0001589	frameshift_variant	29914				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.688dupC	1.37:g.11345859_11345859dupC	ENSP00000366006:p.His230fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQG3|Q53GX3|Q5THD4	Frame_Shift_Ins	INS	ENST00000376810.5	37	CCDS129.1																																																																																				0.609	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1		NM_013319	
XPO6	23214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28115915	28115915	+	Silent	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr16:28115915G>T	ENST00000304658.5	-	21	3398	c.2898C>A	c.(2896-2898)atC>atA	p.I966I	XPO6_ENST00000565698.1_Silent_p.I952I	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	966					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.I966I(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GCTCCTCAGCGATCCCCCTCT	0.577																																																	2	Substitution - coding silent(2)	kidney(2)											72.0	76.0	75.0					16																	28115915		2065	4206	6271	SO:0001819	synonymous_variant	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2898C>A	16.37:g.28115915G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	CCDS42135.1																																																																																				0.577	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1		XM_055195	
YTHDC2	64848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112888982	112888982	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr5:112888982G>C	ENST00000161863.4	+	13	2006	c.1793G>C	c.(1792-1794)aGt>aCt	p.S598T	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S598T	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	598					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.S598T(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TATCATCATAGTTTCGATGAT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											68.0	64.0	65.0					5																	112888982		2201	4299	6500	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1793G>C	5.37:g.112888982G>C	ENSP00000161863:p.Ser598Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077178	0.36662	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.06849	4.25;3.25	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	L	0.29908	0.895	0.45307	D	0.998308	B	0.26483	0.15	B	0.19946	0.027	T	0.35748	-0.9776	10	0.17832	T	0.49	.	19.8209	0.96592	0.0:0.0:1.0:0.0	.	598	Q9H6S0	YTDC2_HUMAN	T	598;598;508	ENSP00000161863:S598T;ENSP00000423101:S598T	ENSP00000161863:S598T	S	+	2	0	YTHDC2	112916881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.684000	0.91462	0.650000	0.86243	AGT		0.373	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2		NM_022828	
ZBTB20	26137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	114070318	114070318	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr3:114070318C>T	ENST00000474710.1	-	4	785	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	ZBTB20_ENST00000357258.3_Missense_Mutation_p.G130R|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G130R|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G130R|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G130R|ZBTB20_ENST00000462705.1_Missense_Mutation_p.G130R|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G130R|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	203						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.G130R(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCCTGGATCCCCGGGAACACA	0.652																																					NSCLC(69;748 1344 9802 11203 30933)												1	Substitution - Missense(1)	kidney(1)											70.0	62.0	65.0					3																	114070318		2203	4300	6503	SO:0001583	missense	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.607G>A	3.37:g.114070318C>T	ENSP00000419153:p.Gly203Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.107905	0.37242	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10668	2.88;2.88;2.88;2.88;2.85;2.88;2.88	5.19	5.19	0.71726	.	0.114392	0.64402	D	0.000013	T	0.09069	0.0224	N	0.19112	0.55	0.49798	D	0.999821	B	0.22480	0.07	B	0.22386	0.039	T	0.12837	-1.0532	10	0.72032	D	0.01	.	14.5107	0.67784	0.0:0.8537:0.1463:0.0	.	203	Q9HC78	ZBT20_HUMAN	R	130;130;130;130;203;130;130	ENSP00000420324:G130R;ENSP00000377375:G130R;ENSP00000418092:G130R;ENSP00000419902:G130R;ENSP00000419153:G203R;ENSP00000349803:G130R;ENSP00000417307:G130R	ENSP00000349803:G130R	G	-	1	0	ZBTB20	115553008	0.982000	0.34865	0.993000	0.49108	0.994000	0.84299	2.377000	0.44300	2.706000	0.92434	0.650000	0.86243	GGG		0.652	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1		NM_015642	
ZBTB39	9880	hgsc.bcm.edu;ucsc.edu	37	12	57397920	57397923	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	AGGA	AGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:57397920_57397923delAGGA	ENST00000300101.2	-	2	864_867	c.779_782delTCCT	c.(778-783)ttcctcfs	p.FL260fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTCAGGGGTGAGGAAGCTGTTTTT	0.525																																																	0																																										SO:0001589	frameshift_variant	9880			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.779_782delTCCT	12.37:g.57397920_57397923delAGGA	ENSP00000300101:p.Phe260fs	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD38|Q9UD98	Frame_Shift_Del	DEL	ENST00000300101.2	37	CCDS31839.1																																																																																				0.525	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1		NM_014830	
ZNF311	282890	broad.mit.edu;hgsc.bcm.edu	37	6	28967350	28967350	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:28967350delT	ENST00000377179.3	-	5	736	c.224delA	c.(223-225)aacfs	p.N75fs	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CCACTCCCTGTTAGTGAAGTT	0.448																																																	0													158.0	122.0	135.0					6																	28967350		1511	2709	4220	SO:0001589	frameshift_variant	282890			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.224delA	6.37:g.28967350delT	ENSP00000366384:p.Asn75fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2BFK5|B0S7Y4|Q92971	Frame_Shift_Del	DEL	ENST00000377179.3	37	CCDS34357.1																																																																																				0.448	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3		XM_212581	
ZNF341	84905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	32377331	32377331	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr20:32377331A>C	ENST00000375200.1	+	14	2337	c.1972A>C	c.(1972-1974)Aca>Cca	p.T658P	RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.T651P	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T651P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TAGGACGCACACAGGCTGCAG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											97.0	83.0	88.0					20																	32377331		2203	4300	6503	SO:0001583	missense	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1972A>C	20.37:g.32377331A>C	ENSP00000364346:p.Thr658Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37		.	.	.	.	.	.	.	.	.	.	A	20.7	4.033397	0.75504	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.68479	-0.33;-0.33	5.29	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.187070	0.47455	D	0.000236	T	0.68586	0.3017	L	0.41415	1.275	0.44247	D	0.997092	D;P;P;P	0.58970	0.984;0.939;0.939;0.925	P;P;P;P	0.56514	0.8;0.697;0.625;0.491	T	0.71358	-0.4617	10	0.62326	D	0.03	-16.2984	11.6868	0.51492	0.9269:0.0:0.0731:0.0	.	599;510;658;651	Q504V9;B3KU97;Q9BYN7;Q9BYN7-2	.;.;ZN341_HUMAN;.	P	651;658	ENSP00000344308:T651P;ENSP00000364346:T658P	ENSP00000344308:T651P	T	+	1	0	ZNF341	31840992	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	4.931000	0.63469	2.141000	0.66446	0.454000	0.30748	ACA		0.592	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				
ATP6V0A1	535	broad.mit.edu	37	17	40647651	40647651	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr17:40647651A>T	ENST00000343619.4	+	14	1600	c.1477A>T	c.(1477-1479)Acg>Tcg	p.T493S	ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.T139S|MIR548AT_ENST00000578714.1_RNA|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.T500S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.T450S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.T493S|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.T450S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.T493S|RP11-194N12.2_ENST00000591343.1_RNA	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	493					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.T493S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TAGTGAAGAGACGCTTCGGGG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											76.0	62.0	67.0					17																	40647651		2203	4300	6503	SO:0001583	missense	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1477A>T	17.37:g.40647651A>T	ENSP00000342951:p.Thr493Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.701934	0.30232	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.88431	-2.07;-2.07;-2.06;-2.06;-2.02;-2.38	6.07	4.98	0.66077	.	0.303364	0.40222	N	0.001159	T	0.82033	0.4949	L	0.37630	1.12	0.30025	N	0.813961	B;B;B;B;B	0.30211	0.146;0.075;0.155;0.273;0.053	B;B;B;B;B	0.37943	0.099;0.201;0.261;0.111;0.06	T	0.72507	-0.4272	10	0.21014	T	0.42	-16.9064	3.2879	0.06939	0.579:0.2221:0.0718:0.127	.	450;450;500;493;493	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	S	493;493;493;500;450;139	ENSP00000342951:T493S;ENSP00000444676:T493S;ENSP00000377415:T493S;ENSP00000264649:T500S;ENSP00000443991:T450S;ENSP00000446377:T139S	ENSP00000264649:T500S	T	+	1	0	ATP6V0A1	37901177	0.002000	0.14202	0.615000	0.29064	0.387000	0.30353	0.693000	0.25497	2.326000	0.78906	0.533000	0.62120	ACG		0.468	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1		NM_001130020	
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:122812709C>T	ENST00000540338.1	-	16	3075	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	CLIP1_ENST00000302528.7_Splice_Site_p.E1001K|CLIP1_ENST00000361654.4_Splice_Site_p.E890K|CLIP1_ENST00000545889.1_Splice_Site_p.E587K|CLIP1_ENST00000537178.1_Splice_Site_p.E966K|CLIP1_ENST00000358808.2_Splice_Site_p.E1001K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1012					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											158.0	159.0	159.0					12																	122812709		2203	4300	6503	SO:0001630	splice_region_variant	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3034-1G>A	12.37:g.122812709C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008438	0.35415	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.53640	2.7;0.63;0.63;0.61;0.66	5.35	5.35	0.76521	.	0.167889	0.52532	D	0.000067	T	0.30039	0.0752	N	0.21097	0.63	0.45837	D	0.998705	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.19946	0.027;0.004;0.006	T	0.11817	-1.0572	10	0.09843	T	0.71	-11.8769	9.7516	0.40478	0.0:0.8405:0.0:0.1595	.	966;1001;1012	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	K	587;1001;1001;731;43;966;1012	ENSP00000438743:E587K;ENSP00000303585:E1001K;ENSP00000351665:E1001K;ENSP00000445531:E966K;ENSP00000439093:E1012K	ENSP00000303585:E1001K	E	-	1	0	CLIP1	121378662	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.787000	0.47798	2.659000	0.90383	0.655000	0.94253	GAA		0.493	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956	Missense_Mutation
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664019	72664020	+	RNA	INS	-	-	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr7:72664019_72664020insA	ENST00000425256.1	-	0	880_881									GTF2I repeat domain containing 2 pseudogene 1																		CACCCCCGGGGCATGCCATCAA	0.505																																																	0																																												401375			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664019_72664020insA		Somatic		WXS	Illumina GAIIx	Phase_I		Translation_Start_Site	INS	ENST00000425256.1	37																																																																																					0.505	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1		NR_002164	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																																	0																																												158160					10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000494540.1	37																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2		NR_003086	
L2HGDH	79944	broad.mit.edu	37	14	50736035	50736035	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr14:50736035C>G	ENST00000267436.4	-	7	1149	c.752G>C	c.(751-753)cGa>cCa	p.R251P	L2HGDH_ENST00000421284.3_Missense_Mutation_p.R251P|L2HGDH_ENST00000261699.4_Missense_Mutation_p.R251P			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	251					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)	p.R251P(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATACTGACATCGAATTTCCTC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											104.0	100.0	101.0					14																	50736035		2203	4300	6503	SO:0001583	missense	79944				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.752G>C	14.37:g.50736035C>G	ENSP00000267436:p.Arg251Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698248	0.30142	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	D;D;D	0.83250	-1.7;-1.7;-1.7	4.95	-0.685	0.11328	FAD dependent oxidoreductase (1);	0.417365	0.28393	N	0.015518	T	0.75708	0.3886	L	0.59912	1.85	0.80722	D	1	B;B	0.13145	0.007;0.002	B;B	0.19666	0.026;0.016	T	0.62324	-0.6878	10	0.37606	T	0.19	-38.789	8.0623	0.30640	0.0:0.3016:0.1148:0.5836	.	251;251	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	P	251	ENSP00000261699:R251P;ENSP00000267436:R251P;ENSP00000405559:R251P	ENSP00000261699:R251P	R	-	2	0	L2HGDH	49805785	0.000000	0.05858	0.470000	0.27216	0.989000	0.77384	-0.288000	0.08377	-0.236000	0.09753	-0.145000	0.13849	CGA		0.403	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2		NM_024884	
ERLIN2	11160	broad.mit.edu	37	8	37604944	37604944	+	Intron	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr8:37604944G>A	ENST00000276461.5	+	7	491				ERLIN2_ENST00000519638.1_Intron	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2						cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCTTGCTCATGCCTTTGCGCT	0.468																																																	0																																										SO:0001627	intron_variant	728024			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.425-2133G>A	8.37:g.37604944G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Silent	SNP	ENST00000276461.5	37	CCDS6095.1																																																																																				0.468	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2		NM_007175	
LOC728323	728323	broad.mit.edu	37	2	243056808	243056808	+	RNA	SNP	T	T	A	rs62192205		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:243056808T>A	ENST00000456398.1	+	0	329																											ATAGCGAAGATGGAGAAATAC	0.279																																																	0																																												728323																															2.37:g.243056808T>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000456398.1	37																																																																																					0.279	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			
LOC728323	728323	broad.mit.edu	37	2	243056818	243056818	+	RNA	SNP	C	C	T	rs62192206		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:243056818C>T	ENST00000456398.1	+	0	339																											TGGAGAAATACTCAATAATGA	0.269																																																	0																																												728323																															2.37:g.243056818C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000456398.1	37																																																																																					0.269	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			
PIP5K1C	23396	broad.mit.edu	37	19	3651997	3651997	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:3651997G>T	ENST00000335312.3	-	8	1042	c.954C>A	c.(952-954)agC>agA	p.S318R	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.S318R|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.S318R|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.S318R|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	318	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.S318R(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CCAGCAGCAGGCTGTAGTCCA	0.657																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												1	Substitution - Missense(1)	kidney(1)											42.0	44.0	43.0					19																	3651997		2202	4299	6501	SO:0001583	missense	23396			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.954C>A	19.37:g.3651997G>T	ENSP00000335333:p.Ser318Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406948	0.42715	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.75704	-0.96;-0.96;-0.96	4.37	4.37	0.52481	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.043354	0.85682	D	0.000000	D	0.90089	0.6904	H	0.98155	4.16	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.91872	0.5508	10	0.87932	D	0	-31.4329	9.7074	0.40225	0.0969:0.0:0.9031:0.0	.	318;318	O60331-3;O60331	.;PI51C_HUMAN	R	318	ENSP00000335333:S318R;ENSP00000445992:S318R;ENSP00000444779:S318R	ENSP00000335333:S318R	S	-	3	2	PIP5K1C	3602997	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	3.436000	0.52856	1.974000	0.57490	0.491000	0.48974	AGC		0.657	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2		NM_012398	
ZNF252P	286101	broad.mit.edu	37	8	146202910	146202910	+	RNA	DEL	T	T	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr8:146202910delT	ENST00000426361.2	-	0	1274					NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						TTTGCCACACTCCTTACAGTC	0.383																																																	0																																												0			BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146202910delT		Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Del	DEL	ENST00000426361.2	37																																																																																					0.383	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000451422.1		NR_023392	
